Educators

Lesson Module I Genetics According to Mendel

I
Part I

Genetics According to Mendel

his teaching license because of a disagreement with examiners about the nature of heredity. Ironically, Mendels failure to become a teacher is what drove him to discover the principal rules of genetics. Bent on proving his ideas correct, Mendel began his famous pea experiments. In 1865, he presented the results of his experiments to the Brunn Society of Natural History, one of the most prestigious scientific societies in the world. In 1866, the society published his paper in their proceedings. Even though the journal reached 120 universities and other societies, Mendels paper was mostly ignored by the science community of the time. It was not until 1900 that Mendels paper was rediscovered and viewed as a significant scientific achievement. How did Mendel succeed where earlier scientists failed to understand heredity? Mendel kept his experiments simple. Mendel had many years of plant breeding experience. As a result, he selected the garden pea because it grew well in small gardens, produced a large number of seeds, and was easily pollinated. Pea plants are selfpollinating because the anthers (male, pollen producer) and the stigma (female, receives pollen) are enclosed in the same flower. This selfing produces strains of pea plants that are identical for many generations, called true-breeding. From his past experiences, Mendel knew how to crosspollinate plants and how the characteristics of peas could be used in his studies. For his experiments, Mendel selected only true-breeding strains and studied only a few traits at a time. He grew his chosen plants for two years to make sure he had a true-breeding strain of peas. When he began crossing true-breeding strains, Mendel made sure that the two parents differed only in the few traits he had chosen. Scientists working before Mendel failed in their similar experiments because they did not use true-breeding strains and did not limit the traits they were testing. Mendel was methodical in recording and applying mathematical analysis to his results. His careful numerical analysis had never been done in truebreeding experiments before and was an essential factor in Mendels success.

BACKGROUND INFORMATION
Introduction
It has been known for thousands of years that biological traits are passed to offspring by their parents who received these traits from past generations. This fact was most successfully applied by farmers who recognized the importance of saving the seeds of the best plants for the next years crop and using the best animals for breeding. But until recent times, the scientific mechanisms that drive inheritance were not understood. Today, we call the scientific study of inheritance genetics. In 1866, an Augustinian priest named Gregor Mendel proposed the first theory about the units of inheritance, that we call genes. He described two basic rules that govern how traits are transmitted from one generation to another. Mendels work is recognized as one of the greatest breakthroughs in the history of science and marked the beginning of the science of genetics we know today. The science of genetics has served as the foundation for todays advancements in crop and animal production, for detecting and treating inherited human diseases, and for the production of medicines that treat human and animal afflictions. Since the early part of the 20th century, genetics has been at the forefront of research in biology and is today the cornerstone of biological research.

The Nature of Mendels Discovery

In 1842, after completing all the formal education his family could afford, 21-year-old Gregor Mendel entered a Austrian monastery as a means to continue his education. In 1851, with the assistance of the monastery, Mendel entered the University of Vienna. There he studied physics, chemistry, zoology, botany, and mathematics, including the new field of statistics. Mendel returned to the monastery and began teaching physics and natural history at the local high school. In 1856, Mendel walked out of the oral examination for 8

Mendels Rule of Segregation

In his first series of experiments, Mendel made crosses between true-breeding pea strains that differed in one trait, seed shape. Parents either had round or wrinkled
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Lesson Module I Genetics According to Mendel

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seeds. These crosses are referred to as monohybrid crosses. The plants involved in the original cross are call the parental or P generation. The progeny (offspring) seeds from this cross are referred to as the first filial or F1 generation. Mendel found that all the F1 generation seeds resulting from his original cross of parents with round and wrinkled seeds were round. (See p. 10-11 to view the results of Mendels crosses.) He concluded that the wrinkled trait seemed to be masked or dominated by the round trait in the F1 seeds. Mendel called the round trait dominant and the wrinkled trait recessive. Mendel planted the F1 seeds, raised the plants, and allowed them to self-pollinate to produce a second filial or F2 generation of seeds. He found that both round and wrinkled seeds appeared in the F2 generation in a ratio of three round (dominant trait) to one wrinkled (recessive trait). Mendel continued each cross for another generation by collecting F2 seeds, planting them, rearing the plants, and allowing them to self-pollinate to produce a third filial or F3 generation. Mendel discovered that F2 individuals with the recessive trait always produced progeny with the recessive trait. Some F2 individuals with the dominant trait produced only progeny with round seeds, while other F2 individuals with the dominant trait had progeny with both round and wrinkled seeds. From these results, Mendel hypothesized that alternative traits, round or wrinkled seeds, are determined by factors. Today, we call these factors genes. Mendel proposed that genes exist in different forms and, consequently, can produce different traits. Today, we call different forms of one gene alleles. Upon completing his monohybrid crosses, Mendel proposed that each individual pea plant carried two copies (two alleles) of each gene. Each allele is given a letter. The genetic makeup of an individual symbolized by letters is called its genotype. Uppercase or capital letters indicate a dominant allele, and lowercase or small letters indicate a recessive allele. An individual with two identical alleles is said to be homozygous. A plant that is true-breeding for round seeds is homozygous for the allele controlling round seed (RR), and a plant that is true-breeding for wrinkled seeds is homozygous for the allele controlling wrinkled seed (rr). An individual that possesses two different alleles of one gene is called heterozygous (Rr). The observable characteristic (smooth, wrinkled) of an individual is called its phenotype.

Mendel theorized that each parent plant passed one allele for each trait to its offspring through their gametes (sperm or egg). Based on the fact that recessive traits reappear in the offspring of heterozygotes, Mendel proposed that alleles do not mix or blend in heterozygotes. This idea was contrary to the blending theory that was the thinking of the day. Mendels results suggested that dominant and recessive alleles do not blend, but are passed intact from heterozygotes to their offspring. Mendel hypothesized that the two alleles segregate (move apart) from one another during gamete formation. From a heterozygote (Rr), two types of haploid gametes formed. One type of gamete contains the round allele (R), and one contains the wrinkled allele (r). Homozygous individuals produce only one type of gamete. Homozygous individuals with round seeds (RR) would produce only gametes containing the round allele (R), and wrinkled (rr) individuals would produce only gametes containing the wrinkled allele (r). From this hypothesis, Mendel formulated his first rule of genetics, the Rule of Segregation. This rule states that pairs of factors (alleles) segregate or separate during the formation of gametes.

Mendels Rule of Independent Assortment

Mendel wanted to understand how two or more traits are inherited simultaneously. He hypothesized two possibilities. One possibility was that the traits were inherited as a unit. If one parent has round and yellow seeds and the other parent has wrinkled and green seeds, these pairs of traits might be passed together to their offspring. The offspring would produce either round-yellow seeds or wrinkled-green seeds. The second possibility was that traits are inherited independently. If so, future generations would display a combination of the traits, such as round-green or wrinkled-yellow seeds. Mendel investigated his hypothesis by crossing plants that differed in two traits, called a dihybrid cross. He crossed plants that were homozygous true-breeding strains for the dominant (RRYY) and recessive (rryy) alleles of both traits. The F1 generation seeds were all round and yellow. This agreed with results Mendel had observed in earlier crosses where round was dominant to wrinkled and yellow was dominant to green. Therefore, the genotype of the F1 generation had to be (RrYy). (See p. 11 to view the crosses made by Mendel.) 9

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Educators

Lesson Module I Genetics According to Mendel

The F1 plants were allowed to self-pollinate. Mendel observed four different seed phenotypes from this cross: round-yellow, round-green, wrinkled-yellow, and wrinkled-green. These phenotypes represent all the possible combinations of the two traits. From these and future experiments, Mendel concluded that seed shape and color were not inherited as a unit. Mendel hypothesized that in order to produce the four different phenotypes, the alleles from these genes must segregate independently. This means that the heterozygous F1 individual would have a 1/2 chance of producing a gamete containing an R or an r allele and a 1/2 chance of producing a gamete containing a Y or a y allele. Therefore, a gamete from the F1 generation had a 1/4 (1/2 X 1/2) chance of having any one of the four genotypes (RY, Ry, rY, ry). Mendel proposed that when the F1 generation selfpollinated, each gamete combined randomly with another gamete. Since there are four possible gamete genotypes, there are 16 gamete combinations (4 X 4). From the 16 gamete combinations, there are nine different F2 genotypes and four different phenotypes. With the evidence from his crosses, Mendel concluded that the alleles of different genes did segregate independently. The independent segregation of alleles of different genes is today called the Rule of Independent Assortment. It states that factors (alleles) for different characteristics are distributed to gametes independently. The genotypes and phenotypes of all progeny of monoand dihybrid crosses are easily analyzed by constructing a Punnett square. Named after the British geneticist R.C. Punnett, this chart is composed of either 4 or 16 squares that represent the number of possible genotype combinations of progeny. To use a Punnett square, the possible gamete combinations are placed to the side of the square either on the row or column side. One side of the square represents the male gametes and the other side represents the female gametes. The gametes are

combined in the square to produce the possible genotypes of the progeny (offspring.)

F2 Seeds from Selfed F1 Plants Genotype: One homozygous and round RR Two heterozygous and round Rr One homozygous and wrinkled rr

R R RR

r Rr

Phenotype: r Rr Three round One wrinkled (a dominant to recessive ratio of 3:1)

rr

F3 Seeds from Selfed F2 Plants RR Genotype and Phenotype: All F3 seeds are homozygous and round. RR

R RR

R RR

RR

RR

F3 Seeds from Selfed F2 Plants Rr Genotype: One homozygous and round RR Two heterozygous and round Rr One homozygous and wrinkled rr

R R RR

r Rr

Results of Mendels Monohybrid Crosses

F1 Seeds from Cross of Parents Genotype and Phenotype: All F1 seeds are heterozygous and round. Rr 10

R Rr

R Rr

Rr

Rr

Phenotype: r Three round One wrinkled (a dominant to recessive ratio of 3:1)

Rr

rr

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Lesson Module I Genetics According to Mendel

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F3 Seeds From Selfed F2 Plants rr Genotype and Phenotype: All F3 seeds are homozygous and wrinkled. rr r

F2 Seeds from Selfed F1 Plants RrYy

r rr

r rr

RY RY RRYY

Ry RRYy

rY RrYY

ry RrYy

rr

rr

Ry RRYy

RRyy

RrYy

Rryy

rY
Mendels Dihybrid Crosses
F1 Seeds from Cross of Parents RRYY x rryy

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

RY ry RrYy

RY RrYy

RY RrYy

RY RrYy

Genotype: Observe the nine different genotypes in the Punnett square above. RRYY, RRYy, RRyy, RrYY, RrYy, Rryy, rrYY, rrYy, rryy Phenotype: The ratio of the four different phenotypes are 9 (9/16) round-yellow seeds, 3 (3/16) round-green seeds, 3 (3/16) wrinkled-yellow seeds and 1 (1/16) wrinkledgreen seeds.

ry

RrYy

RrYy

RrYy

RrYy

ry

RrYy

RrYy

RrYy

RrYy

Credit Notes
Atherly, Alan G.; Girton, Jack R.; and McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999

ry

RrYy

RrYy

RrYy

RrYy
Modern Biology. Holt, Rinehart and Winston Publishing. Austin, Texas. 2002

Genotype and Phenotype: All F1 seeds are heterozygous and round-yellow. RrYy

Biology: The Dynamics of Life. Glencoe/McGraw-Hill Publishing. Columbus, Ohio. 2002

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Educators

Lesson Module I Genetics According to Mendel

I
Part I

Materials

Genetics According to Mendel

TEACHING RESOURCES
Lesson Plan: Punnett Squares
In this activity, students will learn how to analyze the genotypes and phenotypes of all progeny of mono- and dihybrid crosses.

Make copies of the Learning More About student handout for Genetics According to Mendel (Mendel1) on p. 17-21. Also, make copies of the See for Yourself student handouts Mendel-2 and Mendel- 3 on p. 23 and 25. Students will need one copy each of Mendel-1 and Mendel-3. Students will need two copies each of the handout Mendel-2. If using an overhead projector, teachers can make transparencies from the overhead masters Mendel-a through Mendel-i on p. 27-43. Doing the Activity During the first class period, use the Learning More About student handout (Mendel-1) and the overhead transparencies to explain monohybids. During the second class session, explain dihybrids. Teachers may want to use the Mendel-1 handout as a reading assignment before the first class period. Assign the problems at the end of the Mendel-1 handout as classwork or homework. Tell students to write their answers for problems 1 on the monohybrid student handout (Mendel-2) and to write their answers for problem 2 on the dihybrid student handout (Mendel-3). During the third class period, allow time for students to ask questions or finish their assignments during the first half of the class period. Collect the assignments. Use the overhead transparencies with blank Punnett squares (Mendel a-i on p. 27-43) to discuss the correct answers.

Science Education Standards

Science as Inquiry: Content Standard A Abilities necessary to do scientific inquiry (p.175) Understanding about scientific inquiry (p.176) Life Science: Content Standard C The cell (p.184) Molecular basis of heredity (p. 185) Matter, energy, and organization in living systems (p.186) History and Nature of Science: Content Standard G Science as a human endeavor (p. 200) Nature of scientific knowledge (p. 201) Historical perspectives (p. 201)

Reflect and Apply

These problems are included in the Learning More About Genetics According to Mendel student handout on p.1721. The answers are on p. 14 and 15. Punnett Square Problems 1. In a certain breed of rabbits, black fur (B) is dominant to white (b).

Science Process Skills

Observing Ordering Categorizing Relating Applying

Life Skills
Science processing Problem solving Decision making

a. If a homozygous black male is crossed with a heterozygous female, what are the possible phenotypes and genotypes of their offspring? b. What would be the genotypes and phenotypes of offspring from a cross between two heterozygous rabbits? 2. In a special breed of cat, the short hair allele (H) is dominant to long (h) and the color tiger-striped allele (T) is dominant to white (t). What would be

Time
Preparation: 30 minutes to copy handouts Activity: Three 45-minute blocks of class time, with an optional Day 4 for Reebop activity 12

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Lesson Module I Genetics According to Mendel

Educators

the possible phenotypes and genotypes of the offspring from a mating of a heterozygous shorthaired tiger-striped male cat with a long-haired white female cat? Enhancement Activity The Modern Genetics for All Students curriculum is available on a Web site at www.so.wustl.edu/science_ outreach/curriculum/genetics.html that is maintained by Washington University in St. Louis. This is a very good curriculum for studying Mendelian genetics. After completing a free online registration form, educators may download the curriculum as a portable document format (pdf) file. In Chapter 2 under Section C titled If all the Kids Have Mom and Dads Genes, Why Dont They All Look Alike?, the program will download a pdf file with four very good activities. The first activity in that section, Really Relating to Reebops is highly recommended as an enhancement activity for this module.

Credit Notes
Atherly, Alan G. Girton, Jack R. McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999 Modern Biology. Holt, Rinehart and Winston Publishing. Austin, Texas. 2002 Biology: The Dynamics of Life. Glencoe/McGraw-Hill Publishing. Columbus, Ohio. 2002

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Educators

Lesson Module II Marker Assisted Selection

Punnett Squares Answers for Problem 1, Monohybrids

Key to phenotypes BB Bb bb = = = Name _________________________________________ black Class/Section ___________________________________ black Problem No. white 1

Parents phenotype Parents genotype Possible gametes

B

black BB

black Bb

F1 B

B BB

B BB
Phenotype ratio:
All black

F1 Results

Bb

Bb

Genotype ratio:
1/2 BB 1/2 Bb

PART B (if needed) Parents phenotype Parents genotype Possible gametes

B black Bb black Bb

F1 B

B BB

b Bb
Phenotype ratio:
3/4 black 1/4 white

F1 Results

Bb

bb

Genotype ratio:
1/4 BB, 1/2 Bb, 1/4 bb

14

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Lesson Module I Genetics According to Mendel

Punnett Squares Answers for Problem 2, Dihybrids

Key to phenotypes HH or Hh hh TT or Tt tt = = = = short-haired long-haired Problem No. tiger-striped white Name _________________________________________ Class/Section ___________________________________ 2

Parents phenotype Parents genotype Possible gametes

short-haired tiger-striped HhTt

long-haired white hhtt

HT ht

Ht ht

hT ht

ht ht

F1
Results
HT ht ht ht ht HhTt HhTt HhTt HhTt Ht Hhtt Hhtt Hhtt Hhtt hT hhTt hhTt hhTt hhTt ht hhtt hhtt hhtt hhtt

Phenotype ratio:
1/4 short-haired tiger-striped 1/4 short-haired white 1/4 long-haired tiger-striped 1/4 long-haired white

Genotype ratio:
1/4 HhTt 1/4 Hhtt 1/4 hhTt 1/4 hhtt

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Lesson Module I Genetics According to Mendel

Student Handout Mendel-1

Learning more about . . .

Genetics According to Mendel

Introduction
It has been known for thousands of years that biological traits are passed to offspring by their parents who received these traits from past generations. This fact was most successfully applied by farmers who recognized the importance of saving the seeds of the best plants for the next years crop and using the best animals for breeding. But until recent times, the scientific mechanisms that drive inheritance were not understood. Today, we call the scientific study of inheritance genetics. In 1866, an Augustinian priest named Gregor Mendel proposed the first theory about the units of inheritance, that we call genes. He described two basic rules that govern how traits are transmitted from one generation to another. Mendels work is recognized as one of the greatest breakthroughs in the history of science and marked the beginning of the science of genetics we know today. The science of genetics has served as the foundation for todays advancements in crop and animal production, for detecting and treating inherited human diseases, and for the production of medicines that treat human and animal afflictions. Since the early part of the 20th century, genetics has been at the forefront of research in biology and is today the cornerstone of biological research. Bent on proving his ideas correct, Mendel began his famous pea experiments. In 1865, he presented the results of his experiments to the Brunn Society of Natural History, one of the most prestigious scientific societies in the world. In 1866, the society published his paper in their proceedings. Even though the journal reached 120 universities and other societies, Mendels paper was mostly ignored by the science community of the time. It was not until 1900 that Mendels paper was rediscovered and viewed as a significant scientific achievement. How did Mendel succeed where earlier scientists failed to understand heredity? Mendel kept his experiments simple. Mendel had many years of plant breeding experience. As a result, he selected the garden pea because it grew well in small gardens, produced a large number of seeds, and was easily pollinated. Pea plants are selfpollinating because the anthers (male, pollen producer) and the stigma (female, receives pollen) are enclosed in the same flower. This selfing produces strains of pea plants that are identical for many generations, called true-breeding. From his past experiences, Mendel knew how to crosspollinate plants and how the characteristics of peas could be used in his studies. For his experiments, Mendel selected only true-breeding strains and studied only a few traits at a time. He grew his chosen plants for two years to make sure he had a true-breeding strain of peas. When he began crossing true-breeding strains, Mendel made sure that the two parents differed only in the few traits he had chosen. Scientists working before Mendel failed in their similar experiments because they did not use true-breeding strains and did not limit the traits they were testing. Mendel was methodical in recording and applying mathematical analysis to his results. His careful numerical analysis had never been done in truebreeding experiments before and was an essential factor in Mendels success.

The Nature of Mendels Discovery

In 1842, after completing all the formal education his family could afford, 21-year-old Gregor Mendel entered a Austrian monastery as a means to continue his education. In 1851, with the assistance of the monastery, Mendel entered the University of Vienna. There he studied physics, chemistry, zoology, botany, and mathematics, including the new field of statistics. Mendel returned to the monastery and began teaching physics and natural history at the local high school. In 1856, Mendel walked out of the oral examination for his teaching license because of a disagreement with examiners about the nature of heredity. Ironically, Mendels failure to become a teacher is what drove him to discover the principal rules of genetics.
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Student Handout Mendel-1

Lesson Module I Genetics According to Mendel

Mendels Rule of Segregation

In his first series of experiments, Mendel made crosses between true-breeding pea strains that differed in one trait, seed shape. Parents either had round or wrinkled seeds. These crosses are referred to as monohybrid crosses. The plants involved in the original cross are call the parental or P generation. The offspring or progeny seeds from this cross are referred to as the first filial or F1 generation. Mendel found that all the F1 generation seeds resulting from his original cross of parents with round and wrinkled seeds were round. (See p. 19-20 to view the results of Mendels crosses.) He concluded that the wrinkled trait seemed to be masked or dominated by the round trait in the F1 seeds. Mendel called the round trait dominant and the wrinkled trait recessive. Mendel planted the F1 seeds, raised the plants, and allowed them to self-pollinate to produce a second filial or F2 generation of seeds. He found that both round and wrinkled seeds appeared in the F2 generation in a ratio of three round (dominant trait) to one wrinkled (recessive trait). Mendel continued each cross for another generation by collecting F2 seeds, planting them, rearing the plants, and allowing them to self-pollinate to produce a third filial or F3 generation. Mendel discovered that F2 individuals with the recessive trait always produced progeny with the recessive trait. Some F2 individuals with the dominant trait produced only progeny with round seeds, while other F2 individuals with the dominant trait had progeny with both round and wrinkled seeds. From these results, Mendel hypothesized that alternative traits, round or wrinkled seeds, are determined by factors. Today, we call these factors genes. Mendel proposed that genes exist in different forms and, consequently, can produce different traits. Today, we call different forms of one gene alleles. Upon completing his monohybrid crosses, Mendel proposed that each individual pea plant carried two copies (two alleles) of each gene. Each allele is given a letter. The genetic makeup of an individual symbolized by letters is called its genotype. Uppercase or capital letters indicate a dominant allele, and lowercase or small letters indicate a recessive allele. An individual with two identical alleles is said to be homozygous. A plant that is true-breeding for round seeds is homozygous for the allele controlling round seed (RR), and a plant that is true-breeding for wrinkled seeds is homozygous for the allele controlling wrinkled seed (rr). An individual that possesses two different alleles of one gene is called heterozygous (Rr). The observable 18

characteristic (smooth, wrinkled) of an individual is called its phenotype. Mendel theorized that each parent plant passed one allele for each trait to its offspring through their gametes (sperm or egg). Based on the fact that recessive traits reappear in the offspring of heterozygotes, Mendel proposed that alleles do not mix or blend in heterozygotes. This idea was contrary to the blending theory that was the thinking of the day. Mendels results suggested that dominant and recessive alleles do not blend, but are passed intact from heterozygotes to their offspring. Mendel hypothesized that the two alleles segregate (move apart) from one another during gamete formation. From a heterozygote (Rr), two types of haploid gametes formed. One type of gamete contains the round allele (R), and one contains the wrinkled allele (r). Homozygous individuals produce only one type of gamete. Homozygous individuals with round seeds (RR) would produce only gametes containing the round allele (R), and wrinkled (rr) individuals would produce only gametes containing the wrinkled allele (r). From this hypothesis, Mendel formulated his first rule of genetics, the Rule of Segregation. This rule states that pairs of factors (alleles) segregate or separate during the formation of gametes.

Mendels Rule of Independent Assortment

Mendel wanted to understand how two or more traits are inherited simultaneously. He hypothesized two possibilities. One possibility was that the traits were inherited as a unit. If one parent has round and yellow seeds and the other parent has wrinkled and green seeds, these pairs of traits might be passed together to their offspring. The offspring would produce either round-yellow seeds or wrinkled-green seeds. The second possibility was that traits are inherited independently. If so, future generations would display a combination of the traits, such as round-green or wrinkled-yellow seeds. Mendel investigated his hypothesis by crossing plants that differed in two traits, called a dihybrid cross. He crossed plants that were homozygous true-breeding strains for the dominant (RRYY) and recessive (rryy) alleles of both traits. The F1 generation seeds were all round and yellow. This agreed with results Mendel had observed in earlier crosses where round was dominant to wrinkled and yellow was dominant to green.
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Lesson Module I Genetics According to Mendel

Student Handout Mendel-1

Therefore, the genotype of the F1 generation had to be (RrYy). (See p. 20 to view the crosses made by Mendel.) The F1 plants were allowed to self-pollinate. Mendel observed four different seed phenotypes from this cross: round-yellow, round-green, wrinkled-yellow, and wrinkled-green. These phenotypes represent all the possible combinations of the two traits. From these and future experiments, Mendel concluded that seed shape and color were not inherited as a unit. Mendel hypothesized that in order to produce the four different phenotypes, the alleles from these genes must segregate independently. This means that the heterozygous F1 individual would have a 1/2 chance of producing a gamete containing an R or an r allele, and a 1/2 chance of producing a gamete containing a Y allele or a y allele. Therefore, a gamete from the F1 generation had a 1/4 (1/2 X 1/2) chance of having any one of the four genotypes (RY, Ry, rY, ry). Mendel proposed that when the F1 generation selfpollinated, each gamete combined randomly with another gamete. Since there are four possible gamete genotypes, there are 16 gamete combinations (4 X 4). From the 16 gamete combinations, there are nine different F2 genotypes and four different phenotypes. With the evidence from his crosses, Mendel concluded that the alleles of different genes did segregate independently. The independent segregation of alleles of different genes is today called the Rule of Independent Assortment. It states that factors (alleles) for different characteristics are distributed to gametes independently. The genotypes and phenotypes of all progeny of monoand dihybrid crosses are easily analyzed by constructing a Punnett square. Named after the British geneticist R.C. Punnett, this chart is composed of either 4 or 16 squares that represent the number of possible genotype combinations of progeny. To use a Punnett square, the possible gamete combinations are placed to the side of the square either on the row or column side. One side of the square represents the male gametes and the other side represents the female gametes. The gametes are combined in the square to produce the possible genotypes of the progeny (offspring.)

Results of Mendels Monohybrid Crosses

F1 Seeds from Cross of Parents Genotype and Phenotype: All F1 seeds are heterozygous and round. Rr

R r Rr

R Rr

Rr

Rr

F2 Seeds from Selfed F1 Plants Genotype: One homozygous and round RR Two heterozygous and round Rr One homozygous and wrinkled rr

R R RR

r Rr

r Rr Phenotype: Three round One wrinkled (a dominant to recessive ratio of 3:1)

rr

F3 Seeds from Selfed F2 Plants RR Genotype and Phenotype: All F3 seeds are homozygous and round. RR R

R RR

R RR

RR

RR

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Student Handout Mendel-1

Lesson Module I Genetics According to Mendel

F3 Seeds from Selfed F2 Plants Rr Genotype: One homozygous and round RR Two heterozygous and round Rr One homozygous and wrinkled rr

F2 Seeds from Selfed F1 Plants RrYy

R R RR

r Rr

RY RY RRYY

Ry RRYy

rY RrYY

ry RrYy

Phenotype: Three round One wrinkled (a dominant to recessive ratio of 3:1)

Rr

rr

Ry RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

F3 Seeds From Selfed F2 Plants rr Genotype and Phenotype: All F3 seeds are homozygous and wrinkled. rr r

ry

RrYy

Rryy

rrYy

rryy

r rr

r rr
Genotype: Observe the nine different genotypes in the Punnett square above. RRYY, RRYy, RRyy, RrYY, RrYy, Rryy, rrYY, rrYy, rryy Phenotype: The ratio of the four different phenotypes are 9 (9/16) round-yellow seeds, 3 (3/16) round-green seeds, 3 (3/16) wrinkled-yellow seeds and 1 (1/16) wrinkledgreen seeds.

r
Mendels Dihybrid Crosses

rr

rr

F1 Seeds from Cross of Parents RRYY x rryy

RY ry RrYy

RY RrYy

RY RrYy

RY RrYy

Reflect and Apply

Punnett Square Problems Your teacher will give you worksheets where you can write your answers for these problems. 1. In a certain breed of rabbits, black fur (B) is dominant to white (b).

ry

RrYy

RrYy

RrYy

RrYy

ry

RrYy

RrYy

RrYy

RrYy

a. If a homozygous black male is crossed with a heterozygous female, what are the possible phenotypes and genotypes of their offspring? b. What would be the genotypes and phenotypes of offspring from a cross between two heterozygous rabbits? 2. In a special breed of cat, the short hair allele (H) is dominant to long (h) and the color tiger-striped allele (T) is dominant to white (t). What would be

ry

RrYy

RrYy

RrYy

RrYy

Genotype and Phenotype: All F1 seeds are heterozygous and round-yellow. RrYy 20

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Lesson Module I Genetics According to Mendel

Student Handout Mendel-1

the possible phenotypes and genotypes of the offspring from a mating of a heterozygous shorthaired tiger-striped male cat with a long-haired white female cat?

Phenotype Description of an observable trait Punnett square A chart of squares that represents the possible genotypes of offspring from two parents Recessive An allele (r) that expresses itself in a phenotype only in homozygous individuals (rr) Rule of independent assortment Rule of Gregor Mendel that alleles for different characteristics are independently distributed to gametes Rule of segregation Rule of Gregor Mendel that pairs of alleles separate when gametes are formed Second filial (F2) generation The second generation of offspring from two parents Third filial (F3) generation The third generation of offspring from two parents Trait A genetic characteristic of an organism True-breeding Plants that are identical genetically for many generations because they are homozygous

Learn the Language

Alleles Different forms of the same gene Dihybrid cross Cross made between two parents that differ in two traits Dominant An allele (R) that expresses itself in the phenotype of homozygous (RR) or heterozygous (Rr) individuals because it is dominant to the recessive allele (r) First filial (F1) generation The first generation of offspring from two parents Gamete The male and female sex cells that come together during the reproduction process Gene Basic unit of inheritance Genetics The scientific study of inheritance Genotype The genetic makeup of an individual, typically expressed in alphabetical letters Haploid Having only one set of chromosomes Heterozygous Having two different alleles of a gene (Rr) Homozygous Having two identical alleles of a gene (RR or rr) Monohybrid cross Cross made between parents that differ in one trait Parental (P) generation Parents involved in the original cross
Iowa State University Extension and ISU Office of Biotechnology

Credit Notes
Atherly, Alan G. Girton, Jack R. McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999 Modern Biology. Holt, Rinehart and Winston Publishing. Austin, Texas. 2002 Biology: The Dynamics of Life. Glencoe/McGraw-Hill Publishing. Columbus, Ohio. 2002
and justice for all The U.S. Department of Agriculture (USDA) prohibits discrimination in all its programs and activities on the basis of race, color, national origin, gender, religion, age, disability, political beliefs, sexual orientation, and marital or family status. (Not all prohibited bases apply to all programs.) Many materials can be made available in alternative formats for ADA clients. To file a complaint of discrimination, write USDA, Office of Civil Rights, Room 326-W, Whitten Building, 14th and Independence Avenue, SW, Washington, DC 20250-9410 or call 202-720-5964. Issued in furtherance of Cooperative Extension work, Acts of May 8 and June 30, 1914 in cooperation with the U.S. Department of Agriculture. Stanley R. Johnson, director, Cooperative Extension Service, Iowa State University of Science and Technology, Ames, Iowa.

21

Lesson Module I Genetics According to Mendel

Student Handout Mendel-2

See for yourself . . .

Punnett Squares Monohybrids

Key to phenotypes = = = Name _________________________________________ Class/Section ___________________________________ Problem No. ________

PART A Parents phenotype Parents genotype Possible gametes

F1
Phenotype ratio: Genotype ratio:

F1 Results

PART B (if needed) Parents phenotype Parents genotype Possible gametes

F1
Phenotype ratio: Genotype ratio:

F1 Results

and justice for all The U.S. Department of Agriculture (USDA) prohibits discrimination in all its programs and activities on the basis of race, color, national origin, gender, religion, age, disability, political beliefs, sexual orientation, and marital or family status. (Not all prohibited bases apply to all programs.) Many materials can be made available in alternative formats for ADA clients. To file a complaint of discrimination, write USDA, Office of Civil Rights, Room 326-W, Whitten Building, 14th and Independence Avenue, SW, Washington, DC 20250-9410 or call 202-720-5964. Issued in furtherance of Cooperative Extension work, Acts of May 8 and June 30, 1914 in cooperation with the U.S. Department of Agriculture. Stanley R. Johnson, director, Cooperative Extension Service, Iowa State University of Science and Technology, Ames, Iowa.

Iowa State University Extension and ISU Office of Biotechnology

23

Lesson Module I Genetics According to Mendel

Student Handout Mendel-3

See for yourself . . .

Punnett Squares Dihybrids

Key to phenotypes = = = Name _________________________________________ Class/Section ___________________________________ Problem No. ________

Parents phenotype Parents genotype Possible gametes

F1
Phenotype ratio:

Results

Genotype ratio:

and justice for all The U.S. Department of Agriculture (USDA) prohibits discrimination in all its programs and activities on the basis of race, color, national origin, gender, religion, age, disability, political beliefs, sexual orientation, and marital or family status. (Not all prohibited bases apply to all programs.) Many materials can be made available in alternative formats for ADA clients. To file a complaint of discrimination, write USDA, Office of Civil Rights, Room 326-W, Whitten Building, 14th and Independence Avenue, SW, Washington, DC 20250-9410 or call 202-720-5964. Issued in furtherance of Cooperative Extension work, Acts of May 8 and June 30, 1914 in cooperation with the U.S. Department of Agriculture. Stanley R. Johnson, director, Cooperative Extension Service, Iowa State University of Science and Technology, Ames, Iowa.

Iowa State University Extension and ISU Office of Biotechnology

25

Mendels Monohybrid F1 Generation

Seeds from cross of RR x rr parents
R r Rr R Rr

Rr

Rr

Genotype and phenotype ratio: All F1 seeds are heterozygous and round Rr.

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-a

27

Mendels Monohybrid F2 Generation

Seeds from selfed F1 plants Rr
R R RR r Rr

Rr

rr

Genotype ratio: 1/4 homozygous and round 1/2 heterozygous and round 1/4 homozygous and wrinkled Phenotype ratio: 3/4 round 1/4 wrinkled
Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

RR Rr rr

Overhead Master: Mendel-b

29

Mendels Monohybrid F3 Generation

Seeds from selfed F2 plants RR
R R RR R RR

RR

RR

Genotype and phenotype ratio: All F3 seeds are homozygous and round RR.

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-c

31

Mendels Monohybrid F3 Generation

Seeds from selfed F2 plants Rr
R R RR r Rr

Rr

rr

Genotype ratio: 1/4 homozygous and round RR 1/2 heterozygous and round Rr 1/4 homozygous and wrinkled rr Phenotype ratio: 3/4 round 1/4 wrinkled
Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology Overhead Master: Mendel-d

33

Mendels Monohybrid F3 Generation

Seeds from selfed F2 plants rr
r r rr r rr

rr

rr

Genotype and phenotype ratio: All F3 seeds are homozygous and wrinkled rr.

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-e

35

Key to phenotypes = = =

Monohybrid Punnett Squares

PART A Parents phenotype Parents genotype Possible gametes

F1

F1 Results Phenotype ratio:

Genotype ratio:

PART B (if needed) Parents phenotype Parents genotype Possible gametes F1 Results Phenotype ratio:

F1

Genotype ratio:

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-f

37

Mendels Dihybrid F1 Generation

Seeds from cross of parents RRYY x rryy
RY ry RrYy RY RrYy RY RrYy RY RrYy

ry

RrYy

RrYy

RrYy

RrYy

ry

RrYy

RrYy

RrYy

RrYy

ry

RrYy

RrYy

RrYy

RrYy

Genotype and Phenotype: All F1 seeds are heterozygous and round-yellow RrYy.
Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology Overhead Master: Mendel-g

39

Mendels Dihybrid F2 Generation

Seeds from selfed F1 plants RrYy
RY RY RRYY Ry RRYy rY RrYY ry RrYy

Ry RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

Nine genotype ratios: RRYY Rryy RRYy rrYY RRyy rrYy RrYY rryy RrYy
Lesson Module I Genetics According to Mendel

Four phenotype ratios: 9 (9/16) round-yellow seeds 3 (3/16) round-green seeds 3 (3/16) wrinkled-yellow seeds 1 (1/16) wrinkled-green seeds
Overhead Master: Mendel-h

Iowa State University Extension and ISU Office of Biotechnology

41

Key to phenotypes
= = = =

Dihybrid Punnett Squares

Parents phenotype Parents genotype Possible gametes

Results F1 Phenotype ratio:

Genotype ratio:

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-i

43

Lesson Module I Genetics According to Mendel

I
Part II

Genetics According to Mendel

The presence of markers for a trait of interest gives researchers a way to determine the presence or absence of desired alleles. Module II will investigate the relationships among pedigrees, DNA analysis, and marker assisted selection.

Pedigree Analysis
In a pedigree analysis, information about family members is summarized in a special kind of diagram. Each individual is represented by a symbol, a square for a male and a circle for a female. Individuals who have the trait of interest are represented by black squares ( ) or circles ( ). Empty squares ( ) or circles ( ) represent individuals that do not have the trait. The symbols for individuals are arranged in horizontal rows by generation, with each generation denoted by a Roman numeral. Each individual within the generation is numbered. In this manner, it is easy to refer to an individual, such as II-2, which means the second generation, second individual. (See Figure 1.) When two individuals mate, they are connected by a horizontal line. Their offspring are arranged together under the connecting parental line. Siblings are arranged in birth order from left to right. With this information, the use of Mendelian rules, and the rules of probability, it is possible to generate a hypothesis (educated guess) about the alleles that are controlling the trait. The hypothesis from pedigree data usually includes whether an allele is dominant or recessive, as

PEDIGREES
What is a Pedigree?
To understand the process of marker assisted selection (MAS), we first must understand a pedigree. A pedigree is the family history of matings and the offspring they produce with reference to specific genetic traits. Animal and plant breeders have long used pedigrees to help select individuals they believed to have desirable traits. In the case of selective breeding, the researchers are interested in the presence or absence of a trait. An organisms pedigree helps researchers determine the inheritance of a trait. Using modern analysis techniques, researchers search for the DNA sequence of the gene(s) that controls the trait. In the process, they may discover other related DNA sequences near to or present in the gene that always accompany the gene of interest. These accompanying sequences, called molecular markers, are usually shorter and easier to identify than the larger, more complex gene sequence. Figure 1

Symbols: Female Male Mating Individuals with trait of interest Individuals without trait of interest

Pedigree: I

II 1 2 3

Iowa State University Extension and ISU Office of Biotechnology

45

Educators

Lesson Module I Genetics According to Mendel

well as predictions about the genotype of the individuals in the pedigree. This hypothesis can be used to make predictions about the probable genotypes and phenotypes of future offspring. Traits controlled by recessive or dominant alleles show a definite pattern of inheritance in the pedigree diagram. Traits controlled by a dominant allele appear in all individuals that possess one or more copies of the allele. Individuals with homozygous dominant alleles (AA) or heterozygous alleles (Aa) will express the dominant phenotype. A recessive allele cannot be detected in a heterozygous individual and may stay hidden in a family for many generations until a homozygous recessive (aa) individual appears. The parents of an offspring that expresses a recessive trait (aa) must both be heterozygous (Aa) if they did not express the recessive trait themselves. Another question that often can be answered using pedigree analysis is the probability that future offspring may be heterozygous (carriers) or may be homozygous and have the recessive trait. Pedigree information is used to determine the chance that individuals who both have a family history of a trait may produce offspring with the trait. We will use Pedigree 1 below as an example of how a pedigree can be used to determine if a trait is dominant or recessive and predict the individuals genotype and phenotype. The use of Punnett squares also can be very helpful in determining the genotype of the parents and offspring.

In Pedigree 1, an original parent (I-2) has the trait of interest. The absence of individuals in generations II and III with the trait of interest indicates that the trait is controlled by a recessive allele. If the individuals with the trait of interest are homozygous recessive, you can make predictions of the genotypes of the other individuals. I-2 and IV-1 have the trait, so their genotypes would be aa. The recessive allele has traveled from the first generation to the fourth without being expressed. In order for an individual to have the trait, it must have been inherited through a recessive allele from each parent. An individual who is a carrier (heterozygous) would not have the trait. This is the case of the parents of IV-1. Individuals III-1 and III-2 have to be heterozygous (Aa) to have the progeny IV-1 with the trait. Since individual I-2 is homozygous recessive (aa), his offspring II-2 and II-3 must be heterozygous. The exact genotypes of I-1, II-1, II-4, III-3 through III-6, and IV-2 through IV-4 are impossible to determine, except that they must have either the homozygous dominant (AA) or heterozygous (Aa) genotype. The pedigree of additional offspring would be needed to determine their genotypes.

Credit Notes
Atherly, Alan G.; Girton, Jack R.; and McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999 Olson, Tim. New Genes: Good and Bad. Dept. of Animal Sciences, University of Florida. Suszkiw, Jan. Mapping the Way to Bovine Bounty. ARS National Program Publication.

II

III

IV
In Pedigree 1, an original parent (I-2) has the trait of interest. The absence of individuals in generations II and III with the trait of interest indicates that the trait is controlled by a recessive allele.

46

Iowa State University Extension and ISU Office of Biotechnology

Lesson Module I Genetics According to Mendel

Educators

I
Part II

Materials

Genetics According to Mendel

Teachers may want to use student handout Mendel-4 on p. 49-51 and the overhead transparency master Mendel-j on p. 55 to help explain pedigrees. The enrichment problem handout Mendel-5 is on p. 53-54. The problem and answers begin at the bottom of this page.

TEACHING RESOURCES
Lesson Plan: Pedigrees
In this activity, students will learn how to analyze the pedigrees of organisms and determine an inheritance pattern for some common genetic diseases.

Enrichment Problem
John and Sue are planning to start a family. They visit a genetic counselor seeking advice about a genetic disease that both Johns and Sues families have suffered from in the past. There is no genetic test for this recessive trait. Its onset, which can be gradual, occurs after age 40. Both John and Sue are in their early 30s. They would like to determine the chances of their children inheriting the disease. A review of Johns family history of the disease shows that Johns paternal grandfather had the disease, but Johns paternal grandmother and Johns father do not. One of the brothers of Johns father has the disease. Johns mother has the disease. Sues family can only trace the occurrence of the disease back to her maternal grandparents, neither of whom had the disease. Sues mother, father, sister, and brothers have the disease. Construct a pedigree diagram and use Punnett squares to help answer the following questions.

Science Education Standards

Science as Inquiry: Content Standard A Abilities necessary to do scientific inquiry (p.175) Understanding about scientific inquiry (p.176) Life Science: Content Standard C The cell (p.184) Molecular basis of heredity (p. 185) Matter, energy, and organization in living systems (p.186) History and Nature of Science: Content Standard G Science as a human endeavor (p. 200) Nature of scientific knowledge (p. 201) Historical perspectives (p. 201)

Reflect and Apply

These questions are included in the See for Yourself, Mendel-5, student handout on p.53-54. Pedigree diagram and Punnett square answers are below. Enrichment Problem Questions 1. What are the genotypes of Johns and Sues parents and grandparents?

Science Process Skills

Observing Ordering Categorizing Relating Applying

Life Skills
Science processing Problem solving Decision making 2.

Johns parents: Johns paternal grandparents: Sues parents: Sues maternal grandparents:

Rr rr rr Rr

rr Rr rr Rr

Time
Preparation: 10 minutes to copy handouts Activity: 45 minutes for activity
Iowa State University Extension and ISU Office of Biotechnology

What are the possible genotypes of John and Sue? John rr or Rr Sue rr 47

Educators

Lesson Module I Genetics According to Mendel

3.

If you are John and Sues genetic counselor, and given their family histories, how would you explain the chances of their children inheriting the disease? If John is rr, there is a 100% chance that their children will have the disease. If John is heterozygous Rr, there is a 50% chance of each child having the disease. Because of the late onset of the disease, it is impossible to determine if Johns genotype is heterozygous or homozygous for the disease. However, because Sues parents and siblings have the disease, there is a 100% chance that Sue will experience disease symptoms later in life.

Credit Notes
Atherly, Alan G.; Girton, Jack R.; and McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999 Olson, Tim. New Genes: Good and Bad. Dept. of Animal Sciences, University of Florida. Suszkiw, Jan. Mapping the Way to Bovine Bounty. ARS National Program Publication.

Possible offspring of John and Sue, which depends on Johns genotype

r r rr

r rr

R r Rr

r rr

rr

rr

Rr

rr

48

Iowa State University Extension and ISU Office of Biotechnology

Lesson Module I Genetics According to Mendel

Student Handout Mendel-4

Learning more about . . .

Pedigrees
What is a Pedigree?
To understand the process of marker assisted selection (MAS), we first must understand a pedigree. A pedigree is the family history of matings and the offspring they produce with reference to specific genetic traits. Animal and plant breeders have long used pedigrees to help select individuals they believed to have desirable traits. In the case of selective breeding, the researchers are interested in the presence or absence of a trait. An organisms pedigree helps researchers determine the inheritance of a trait. Using modern analysis techniques, researchers search for the DNA sequence of the gene(s) that controls the trait. In the process, they may discover other related DNA sequences near to or present in the gene that always accompany the gene of interest. These accompanying sequences, called molecular markers, are usually shorter and easier to identify than the larger, more complex gene sequence. The presence of markers for a trait of interest gives researchers a way to determine the presence or absence of desired alleles. Figure 1 Module II will investigate the relationships among pedigrees, DNA analysis, and marker assisted selection.

Pedigree Analysis
In a pedigree analysis, information about family members is summarized in a special kind of diagram. Each individual is represented by a symbol, a square for a male and a circle for a female. Individuals who have the trait of interest are represented by black squares ( ) or circles ( ). Empty squares ( ) or circles ( ) represent individuals that do not have the trait. The symbols for individuals are arranged in horizontal rows by generation, with each generation denoted by a Roman numeral. Each individual within the generation is numbered. In this manner, it is easy to refer to an individual, such as II-2, which means the second generation, second individual. (See Figure 1.) When two individuals mate, they are connected by a horizontal line. Their offspring are arranged together under the connecting parental line. Siblings are arranged in birth order from left to right. With this information, the use of Mendelian rules, and the rules of probability, it is possible to generate a hypothesis

Symbols: Female Male Mating Individuals with trait of interest Individuals without trait of interest

Pedigree: I

II 1 2 3

Iowa State University Extension and ISU Office of Biotechnology

49

Student Handout Mendel-4

Lesson Module I Genetics According to Mendel

(educated guess) about the alleles that are controlling the trait. The hypothesis from pedigree data usually includes whether an allele is dominant or recessive, as well as predictions about the genotype of the individuals in the pedigree. This hypothesis can be used to make predictions about the probable genotypes and phenotypes of future offspring. Traits controlled by recessive or dominant alleles show a definite pattern of inheritance in the pedigree diagram. Traits controlled by a dominant allele appear in all individuals that possess one or more copies of the allele. Individuals with homozygous dominant alleles (AA) or heterozygous alleles (Aa) will express the dominant phenotype. A recessive allele cannot be detected in a heterozygous individual and may stay hidden in a family for many generations until a homozygous recessive (aa) individual appears. The parents of an offspring that expresses a recessive trait (aa) must both be heterozygous (Aa) if they did not express the recessive trait themselves. Another question that often can be answered using pedigree analysis is the probability that future offspring may be heterozygous (carriers) or may be homozygous and have the recessive trait. Pedigree information is used to determine the chance that individuals who both have a family history of a trait may produce offspring with the trait. We will use Pedigree 1 below as an example of how a pedigree can be used to determine if a trait is dominant or recessive and predict the individuals genotype and phenotype. The use of Punnett squares also can be

very helpful in determining the genotype of the parents and offspring. In Pedigree 1, an original parent (I-2) has the trait of interest. The absence of individuals in generations II and III with the trait of interest indicates that the trait is controlled by a recessive allele. If the individuals with the trait of interest are homozygous recessive, you can make predictions of the genotypes of the other individuals. I-2 and IV-1 have the trait, so their genotypes would be aa. The recessive allele has traveled from the first generation to the fourth without being expressed. In order for an individual to have the trait, it must have been inherited through a recessive allele from each parent. An individual who is a carrier (heterozygous) would not have the trait. This is the case of the parents of IV-1. Individuals III-1 and III-2 have to be heterozygous (Aa) to have the progeny IV-1 with the trait. Since individual I-2 is homozygous recessive (aa), his offspring II-2 and II-3 must be heterozygous. The exact genotypes of I-1, II-1, II-4, III-3 through III-6, and IV-2 through IV-4 are impossible to determine, except that they must have either the homozygous dominant (AA) or heterozygous (Aa) genotype. The pedigree of additional offspring would be needed to determine their genotypes.

Learn the Language

Dominant An allele (R) that expresses itself in the phenotype of homozygous (RR) or heterozygous (Rr) individuals because it is dominant to the recessive allele (r)

II

III

IV
In Pedigree 1, an original parent (I-2) has the trait of interest. The absence of individuals in generations II and III with the trait of interest indicates that the trait is controlled by a recessive allele.

50

Iowa State University Extension and ISU Office of Biotechnology

Lesson Module I Genetics According to Mendel

Student Handout Mendel-4

Molecular marker A piece of DNA linked to or part of a gene of interest Pedigree Family history of matings and the offspring they produce with reference to specific genetic traits Recessive An allele (r) that expresses itself in a phenotype only in homozygous individuals (rr)

Credit Notes
Atherly, Alan G.; Girton, Jack R.; and McDonald, John F . The Science of Genetics. Saunders College Publishing. 1999 Olson, Tim. New Genes: Good and Bad. Dept. of Animal Sciences, University of Florida. Suszkiw, Jan. Mapping the Way to Bovine Bounty. ARS National Program Publication.

and justice for all The U.S. Department of Agriculture (USDA) prohibits discrimination in all its programs and activities on the basis of race, color, national origin, gender, religion, age, disability, political beliefs, sexual orientation, and marital or family status. (Not all prohibited bases apply to all programs.) Many materials can be made available in alternative formats for ADA clients. To file a complaint of discrimination, write USDA, Office of Civil Rights, Room 326-W, Whitten Building, 14th and Independence Avenue, SW, Washington, DC 20250-9410 or call 202-720-5964. Issued in furtherance of Cooperative Extension work, Acts of May 8 and June 30, 1914 in cooperation with the U.S. Department of Agriculture. Stanley R. Johnson, director, Cooperative Extension Service, Iowa State University of Science and Technology, Ames, Iowa.

Iowa State University Extension and ISU Office of Biotechnology

51

Lesson Module I Genetics According to Mendel

Student Handout Mendel-5

See for yourself . . .

What Are the Chances?
In this activity, you will use a Punnett square and a pedigree diagram to predict the chances of children inheriting a family disease. Name _________________________________________ Class/Section ___________________________________

Family History
John and Sue are planning to start a family. They visit a genetic counselor seeking advice about a genetic disease that both Johns and Sues families have suffered from in the past. There is no genetic test for this recessive trait. Its onset, which can be gradual, occurs after age 40. Both John and Sue are in their early 30s. They would like to determine the chances of their children inheriting the disease. A review of Johns family history of the disease shows that Johns paternal grandfather (on his fathers side) had the disease, but Johns paternal grandmother and Johns father do not. One of the brothers of Johns father has the disease. Johns mother has the disease. Sues family can only trace the occurrence of the disease back to her maternal grandparents (on her mothers side), neither of whom had the disease. Sues mother, father, sister, and brothers have the disease. Construct a pedigree diagram and use Punnett squares to answer questions 1-3. Use the space on the back of this page. 1. What are the genotypes of Johns and Sues parents and grandparents? 3. If you are John and Sues genetic counselor and, given their family histories, how would you explain the chances of their children inheriting the disease? Draw a Punnett square and pedigree diagram on the back of this page to help you explain the chances.

2.

What are the possible genotypes of John and Sue?

Iowa State University Extension and ISU Office of Biotechnology

53

Student Handout Mendel-5

Lesson Module I Genetics According to Mendel

Pedigree Diagram for Questions 1 and 2

Punnett Square for Question 3

and justice for all The U.S. Department of Agriculture (USDA) prohibits discrimination in all its programs and activities on the basis of race, color, national origin, gender, religion, age, disability, political beliefs, sexual orientation, and marital or family status. (Not all prohibited bases apply to all programs.) Many materials can be made available in alternative formats for ADA clients. To file a complaint of discrimination, write USDA, Office of Civil Rights, Room 326-W, Whitten Building, 14th and Independence Avenue, SW, Washington, DC 20250-9410 or call 202-720-5964. Issued in furtherance of Cooperative Extension work, Acts of May 8 and June 30, 1914 in cooperation with the U.S. Department of Agriculture. Stanley R. Johnson, director, Cooperative Extension Service, Iowa State University of Science and Technology, Ames, Iowa.

54

Iowa State University Extension and ISU Office of Biotechnology

Pedigree 1
Pedigree 1
? AA or Aa ? AA or Aa Aa ? Aa Aa ? aa ? ? Aa ? aa ? AA or Aa ? ?

In Pedigree 1, an original parent (I-2) has the trait of interest. The absence of individuals in generations II and III with the trait of interest indicates that the trait is controlled by a recessive allele.

Lesson Module I Genetics According to Mendel Iowa State University Extension and ISU Office of Biotechnology

Overhead Master: Mendel-j

55