Genetics
 Heredity - the transmission of traits or characteristics from parents to their offspring.
 Genetics - is a special field of biology that studies heredity and the factors that affect heredity
 Gregor Mendel - “father of modern genetics”; was an Austrian monk , a high school teacher
of physics and natural history who spent free time conducting biological experiments in a
small garden near the monastery.
Mendel’s Experiment
 He carried out his famous experiments on crosses of garden peas (Pisum Sativum).
 Mendel’s experiments with garden peas laid down the basic principles of inheritance.
 He chose garden peas for two reasons:
1. Garden peas have several varieties that are observable, contrasting characteristic.
2. Garden peas normally reproduce by self-pollination.
 Pea plants normally self-pollinate, which means they reproduce by themselves.
 By crossing two different varieties by deliberately transferring the pollen of one plant to the
pistil of another,
 Mendel was able to follow the inheritance of a single, distinguishable trait.
 He even made exact counts of the number of plants bearing a specific trait.
 It was from this quantitative data that Mendel was able to deduce the principles of inheritance
F1 generation
 Mendel crossed garden peas that showed one form of a trait with garden peas that showed the
other form. The offspring of these crosses are referred to as hybrid.
 Hybrid – is an offspring of parents with different traits.
 Hybrid are termed as f1 generation or first filial generation, from the latin word “filius”,
meanng “son”.
 He called the starting breeding plants as p generation or parental, from the latin word
“parentis” meaning “of the parent”.
 He called the process of the breeding the generation as f1 cross.
 To Mendel’s surprise, the traits of the other parent appeared in the offspring. The traits of the
other parent seemed to have disappeared.
 There was no blending of parenteral traits.
 Those traits that appeared on the first generation as dominant and the traits that were masked
as recessive.
F2 generation
 Out of curiosity about what happened to the traits that seemed to have disappeared in the f1
generation, Mendel crossed the garden peas in the f1 generation among themselves.
 This second cross, which he termed as f2 cross, resulted in hybrids in the f2 generation.
 Both dominant and recessive traits reappeared.
 Both traits appeared in the ratio 3:1 or 3 plants with dominant traits to one plant with
recessive traits.
 Mendel concluded that the sex cells or gametes of garden peas contain factors that induced the
appearance of a particular trait.
 For example in seed color, a certain factor caused the appearance of yellow seeds and
another factor caused the appearance of green seeds.
 These factors were later called genes by the Danish biologist, Wilhelm Ludvig Johannsen.
Mendel’s basic observation
 Mendel concluded that each of the 7 contrasting traits he investigated must contain at least 2
genes that were contributed by each parent. The different forms of a gene are called alleles.
 For example, the gene that determines the pod color of garden peas has two alleles. 1 allele
produces green pod and the other allele produces yellow pod.
Phenotype - is a set of observable characteristics.
 Example: the height of garden pea can be phenotypically described as either tall or short
Genotype- refers to the genetic make-up pertaining to that trait.
 Biologists represent a dominant allele with a capital letter (T for tall) and a recessive allele
with a small letter (t for short).
 The allele (T) is dominant, which means it gets expressed whether another allele coming from
another parent is (T) or (t).
 The allele (t) is recessive, which means its expression is masked when combined with the
dominant (T).
 The only time a recessive allele is expressed is when it is combined with another recessive
allele.
 In other words, the phenotype tall could be produced by 2 possible genotypes: TT and Tt;
whereas, the phenotype short could be produced by tt.
 Thus, identical phenotypes could be produced by more than one genotype.
 Homozygous trait– organisms that have an identical pair of alleles for a trait such as TT (for
tall) or tt (for short)
 Homozygous dominant – TT
 Homozygous recessive - tt
 Heterozygous trait – organisms that have a mixed pair of alleles asTt (also for tall)
Mendel’s observation
Based on the results of his experiments with peas, Mendel was able to make the following
observations:
 The f1 generation showed only the dominant trait
 In the f2 generation, both dominant and recessive traits reappeared in the offspring
 In the f2 generation, there were 3x as many plants with dominant traits than plants with
recessive traits
Those basic observations led Mendel to discover the following principle and laws of inheritance:
a. Principle of paired unit factors - States that characters are controlled by hereditary particles
called unit factors, which come in pairs. When Mendel observed that traits did not blend, he
argued that some invisible factor must determine each of the traits he investigated. He termed
this factor as “merkmal”, which is a German word for “character”. Today, the factor that
determines traits is called a gene.
b. Law of segregation - States that for each gene, an organism receives one allele from each
parent. The alleles separate from each other in a process called segregation.
c. Law of dominance and recessiveness - States that if an organism inherits different alleles for
the same trait, one allele may be dominant over the other. As Mendel had observed, all pea
 plants in the f1 generation were just as tall as the p generation. Mendel’s law of inheritance
explains the process by which characteristics, such as dominant and recessive traits, are
transmitted from one generation to the next. Dominant and recessive traits are only found in
plants, but also in animals as well as humans. Some easy-to-recognize characteristics in
humans that can be distinguished as dominant or recessive traits.
d. Law of independent assortment - States that the segregation of the members of any pair of
alleles is independent of the segregation of other pairs in the formation of reproductive cells.
Punnett Square
 Designed by British geneticist Reginald Punnett in the 1900’s
 Method of tabulation used to predict the possible offspring of a cross between two parents.
 Makes it easier for scientists to keep track of the possible genotypes of the offspring from a
cross.
Monohybrid cross - a cross between 2 different lines that differ in 1 observed traits
Dihybrid cross - a cross between 2 different lines that differ in 2 observed traits.
NON-MENDELIAN FORMS OF HEREDITY
a. Incomplete dominance - results when neither allele is completely dominant over the other.
Example:
 A brown coat rabbit resulting from one parent with red allele and other parent with white
allele
 A child’s wavy hair resulting from one parent’s curly hair and the other’s straight hair.
b. Codominance - is a non-Mendelian pattern of inheritance in which hybrids show the phenotypic
characteristics of both alleles.
Example:
 Roan – is a coat characterized by an even mixture of white and colored hairs in the body, and
a solid color in the lower legs, mane and tail.
c. Multiple alleles - refers to a non-Mendelian inheritance pattern that involves more than just the
typical two alleles that code for a certain characteristics.
 Example: abo blood type
d. Polygenic traits - are traits controlled by more than one gene and thus, their inheritance can be
complicated.
 These traits show a very wide range of phenotypes.
 This is particularly true of the genes that control body shape and form.
 Although your facial appearance is inherited, no single gene determines the exact shape of
your mouth, nose or the position of your ears.
 Other examples are skin color, height, weight, and fingerprints
e. Epistasis - results when an allele of one gene hides or masks the visible expression or phenotype of
another gene. It is entirely different from dominant and recessive genes.
 Example: coat color in labrador retrievers that can vary from yellow to black
f. Gene linkage - describes genes that are close together in the same chromosome thus tending or
likely to be inherited together.
 Genes on a chromosome that are farther away from each other have a higher chance of
separating during recombination, the process wherein dna recombines during meiosis.
 The strength of linkage of two genes is dependent on the distance between each other on the
chromosome
Sex linkage - refers to the pattern of inheritance exhibited by the x chromosome that are much
different from those of the autosomal chromosome.
 Sex-linked genes – genes located on the sex chromosomes
 Sex-linked traits – traits expressed by sex-linked genes.
Sex-linked Diseases
1. Hemophilia
 Two important genes carried by the x chromosome help control blood clotting.
 Individuals who have inherited the recessive allele for one of these genes will experience
continuous bleeding even for minor cut or injuries.
 Also known as bleeder’s disease
 A person with hemophilia commonly experiences bleeding in the joints, which may be
crippling.
 It affects 1 out every 10,000 males. It is rare in females.
 Became widely known because it affected at least 10 male descendants of queen victoria, who
was a carrier.
 No known cure has been developed.
 Treatment consists of avoiding trauma and administering injections of clotting factor proteins
from the blood of healthy individuals.
2. Color blindness
 Another sex-linked gene is responsible for normal color vision.
 The dominant allele is produces normal vision while the recessive allele causes color
blindness.
 One form of color blindness is the inability to distinguish between red and green appear as
gray.
 Color blindness occurs frequently in males than in females.
 In the US, approximately 10 percent of all males suffer from at least one type of color
blindness.
 Specially designed spectacles or eyeglasses are now available to correct this problem.
3. Duchenne muscular dystrophy
 A relatively common sex-linked disease affecting 3 out of 10,000 male births.
 It is characterized by a progressive muscular deterioration, leading to death by age 14 to 18.
 The first sign of duchenne muscular dystrophy occurs in boys between the ages 3 to 7 as
weakness in or around the pelvis.
 As the muscles progressively weaken, they also enlarge but the abnormal muscle tissue is not
strong.
  Treatment: gene therapy, which involves inserting a normal allele into the muscle cells of 1. Replication – the process through which DNA is copied resulting in two identical DNA
affected individual. molecules.
g. Sex-limited traits 2. Transcription – a process, which results in the synthesis of RNA molecules.
 Traits that are expressed in only one sex but not in other due to the activation of sex hormones 3. Translation – a process, which adapts information in a type of RNA, called messenger RNA
Examples: Milk production in females and Growth of beard in males (mRNA) to the amino acids, which make up protein.
h. Sex-influenced traits
 Traits that are expressed differently in two sexes due to the influence of sex hormones. RNA is the principal molecule involved in decoding the genetic information contained in the DNA.
Example: Baldness, a trait more dominant in males than in females.
Three types of RNA involved in protein synthesis:
Pedigree 1. mRNA – Messenger RNA – a type of RNA that carries the instructions coded by the DNA
 A traditional way to study and trace the inheritance of a trait. from the nucleus to the ribosome.
2. tRNA – Transfer RNA – a smaller segments of RNA that transport one amino acid after
MOLECULAR STRUCTURE OF DNA, RNA AND PROTEINS another to the ribosome.
Nucleotides – are the building blocks of any nucleic acid. It is composed of a five-carbon sugar, a 3. rRNA – Ribosomal RNA – a type of RNA that associates with proteins to form ribosomes in
phosphate group and a nitrogen base. the cytoplasm.

Two nucleic acids found in all living cells
1. DNA (Deoxyribonucleic Acid)
– Contains the sugar deoxyribose, a phosphate group and one of the four nitrogenous bases.
– DNA molecule is often compared to a twisted ladder and described as a double helix. The two
strands of DNA molecules are held together by hydrogen bonds between base pairs. The base
pairs form the steps of the ladder.
– A purine base will always binds to a pyrimidine base. Example: the purine adenine always
binds with thymine and guanine always binds with cytosine.
2. RNA (Ribonucleic Acid)
– Contains sugar ribose, a phosphate group and one of the nitrogenous bases.
– RNA molecule is usually single stranded.
– In RNA, the base thymine is replaced with uracil.
Proteins are composed of polypeptides, and polypeptides are composed of 20 different amino acids.
The instructions coded in the DNA are the specific sequence in which the 20 different amino acids are
to be assembled. The code contained in the DNA and RNA is called the genetic code.
The codes in the DNA and mRNA are carried as units called codons. Each codon consists of 3
nitrogenous bases coding for particular amino acids.
The main concept of the central dogma is that DNA does not code for protein directly but acts through
an intermediary molecule of RNA.
APPLIED GENETICS (PLANT AND ANIMAL BREEDING)

Nitrogenous Bases  The practice of plant breeding dates back to the time when people began farming and
1. Purine Bases: Adenine and Guanine agriculture.
2. Pyrimidine Bases: Thymine and Cytosine  At the start of the 20th century, genetics began to be used to produce new strains of plants and
animals.
Chargaff’s Rule – discovered by Erwin Chargaff, states that the amount of guanine is almost equal  Self Pollination – occurs if the pollen transferred to a flower comes from a flower of the same
to the amount of cytosine and the amount of adenine is equal to thymine. plant.
 Cross Pollination – happens if the pollen comes from a flower of a different plant.
Comparison of DNA and RNA  Mass Selection – is the process of choosing ideal plants from a large number of populations
DNA RNA to be the parents for future breeding processes.
Sugar Present Deoxyribose Ribose  Hybridization – is also called outbreeding and involves crossing carefully selected parent
Nitrogen Base Thymine, Adenine, Cytosine, Uracil, Adenine, Cytosine, plants.
Guanine Guanine  Genetic Engineering – deals with the techniques of identifying, manipulating and
Shape Double Helix Single Stranded transferring specific portion of the genes from one organism to another to produce
Function Carries instructions that control Carries out the information in characteristics in plants and in animals faster and precisely than normal breeding process.
cellular activities the DNA  Genetically Modified Organism (GMO) –is one whose genetic material has been altered
using genetic engineering.
The Central Dogma of Molecular Biology describes the flow of information in the cell.
 Biotechnology – refers to the use of transgenic organisms to perform certain tasks to benefit
humankind.
 Recombinant DNA Technology – allows genes from different sources, even different
species, to be combined into a single DNA molecule.