Inheritance

CHAPTER 5

Concept of Inheritance Based on Mendels Experiment

Gregor Mendel (1822-1884). An Austrian monk. Known as father of genetics. Observed garden pea plant (Pisum sativum) had different characteristics: some had tall stems, others had short stems; some had round seeds, others had wrinkled seeds. Decided to carry out breeding experiment using 7 distinct characteristics of pea plants to find out how these were transmitted from generation to generation.

GREGOR MENDEL

The seven garden pea characteristics studied by Gregor Mendels

CHARACTERISTICS

TRAITS

STEM LENGTH

Tall

Short

FLOWER POSITION
FLOWER COLOUR POD (FRUIT) SHAPE POD COLOUR SEED SHAPE

Axial
Purple Inflated Green Round

Terminal
White Constricted Yellow Wrinkled

SEED COLOUR

Yellow

Green

Meaning of Inheritance, Characteristics and Trait

Inheritance: The transmission of particular characteristics from generation to generation by means of genetic code on the DNA of a chromosome. Characteristic: A distinctive inherited feature of an organism, such as height and colour Trait: Each variant for a specific characteristic. Eg: Seed colour is characteristic; yellow seed and green seed are traits for this characteristic.

Monohybrid Inheritance
A genetic cross between two parents that differed in only one characteristic known as monohybrid inheritance.

Monohybrid inheritance
Mendel used pure breeds of tall and short plants as the parents (P) and artificially crosspollinated them. He observed that all the hybrid offspring of the first filial generation (F1) were tall plants. Mendel called the trait (tall stem) that showed up in the F1 generation dominant and the trait (short stem) which did not show up recessive.

Monohybrid inheritance
He then, allowed the F1 plants to selfpollinate. The seeds produced are planted and produced the second filial generation (F2). He recorded the number of individuals. From 1064 plants, 787 were tall and 277 were short giving an approximate ratio 3:1.

Monohybrid Cross
Parents Phenotype Genotype

Tall TT

Short tt
t t

Gametes

Random fertilisation Tt Tt Tt Tt

All the first generation, F1, are tall plants and have the genotype Tt When there is self-pollination of the F1 plants (Tt X Tt)

(continue next slide)

Monohybrid Cross
Tt X Tt

Gametes

Random fertilisation
TT Tt Tt tt

In the second filial generation, F2, the ratio obtained is 3 tall plants : 1 short plant

Monohybrid Inheritance
pure-breeding parents first filial (F1) generation

x
purple

white

all purple

second filial (F2) generation 705 purple 224 white monohybrid ratio 3:1

Monohybrid inheritance
From the results, Mendel made the following deductions:
Within each organism are hereditary factors. Each characteristic is determined by two hereditary factors in the chromosomes. During the formation of gametes, the two factors are separated and each gamete contains only one factor. Fertilisation of gametes is at random; the zygote contains two factors for a particular characteristic. If the two factors differ, the factor that shows up its effects is dominant while the other is recessive.

Monohybrid inheritance
Mendel then proposed the First Law which states that each hereditary characteristic is controlled by the two factors. During gamete formation, the two factors separate or segregate and each gamete will contain one factor.

Monohybrid inheritance
Mendels First Law or Law of Segregation states that each individual characteristic of an organism is determined by a pair of alleles. The pairs of alleles segregate during meiosis and only one of each pair of alleles can be presented in a single gamete.

Terms used in genetics

Gene: A basic unit of inheritance that determines a particular characteristic in an organism. Consists of a segment of DNA nucleotide on a specific locus of a chromosome. It controls a particular trait in an organism. Allele: One of two alternative forms of a gene that can have the same locus on homologous chromosome. One of each pair comes from the male parent and the other from the female parent.

Terms used in genetics

Locus: The location of a gene on the chromosome.
allele for white skin colour allele for dark skin colour

Terms used in genetics

Dominant allele: the allele that produces the phenotype of the organism Recessive allele: the allele that produces the phenotype of the organism only when there is no dominant allele present. Genotype: the genetic constituent of an organism. Phenotype: the observed characteristics of an organism which is determined by the specific genotype.

Terms used in genetics

Homozygote: An organism where both the alleles of a particular gene of a pair of homologous chromosomes are identical. Eg. TT, tt Heterozygote: An organism where the alleles of a particular gene on a pair of homologous chromosomes are different. Eg. Tt Pure line (pure breed): A population of organisms, all having the same particular trait that has been genetically unchanged through many generations.

Dihybrid Inheritance
Mendel then carried out dihybrid crosses to explain how two different characteristics were inherited. Inheritance involving a cross between two parents that differ in two characteristics is known as dihybrid inheritance.

Dihybrid cross
Parent (P) Phenotype Genotype Gamete Fertilization F1 Generation Genotype Phenotype Allow F1 plants to self-pollinate Meiosis TR Tr tR tr TR Tr tR tr Tall, round seed TTRR All TR X Short, wrinkled seed ttrr All tr

TtRr All tall, round seeds TtRr X TtRr

Dihybrid cross
Male Female gamete Gamete

TR
TTRR
Tall,round

Tr
TTRr
Tall,round

tR
TtRR
Tall,round

tr
TtRr
Tall,round

TR Tr tR

TTRr
Tall,round

TtRR
Tall,round

TtRr Tall,wrinkled Tall,round TtRr ttRR

Tall,round Short,round

TTrr

Ttrr
Tall,wrinkled

ttRr
Short,round

tr
F2 generation Phenotype Ratio

TtRr
Tall,round
Tall plant, round seed 9

Ttrr
Tall,short
Tall plant, wrinkled seed : 3 :

ttRr
Short plant round seed 3

ttrr
Short plant wrinkled seed : 1

Short,round Short,wrinkled

Dihybrid cross
From the dihybrid cross, Mendel proposed his second hypothesis which known as Mendels Second Law or Law of Independent Assortment Mendels Second Law or Law of Independent Assortment states that during gamete formation, each member of a pair of alleles may combine randomly with either member of another pair of alleles.

ABO Blood Group System

The human ABO blood group is an example of multiple alleles and there are three alleles involved. However, only two out of these three alleles can be presented on the same gene locus of a pair of homologous chromosomes in a single diploid organism. The alleles determine the type of antigens found on the membrane of red blood cells. Alleles IA and IB are dominant to allele IO which is recessive. Alleles IA and IB are codominant and are expressed eqully in the phenotype of the heterozygous offspring.

ABO Blood Group System

Genotype Phenotype (Blood Group) Blood group A Types of antigen on red blood cell A Antibody in blood plasma Anti-B

IA IA IA IO

IB IB IB IO IA IB
IO IO

Blood group B

Anti-A

Blood group AB Blood group O

A and B None

None Anti-A and Anti-B

Rhesus Factor in Human

The rhesus factor (Rh factor) is referring to the antigen found on the surface membrane of some red blood cells. People who have Rhesus factor are said to be Rhesus positive (Rh+) and those who do not are considered Rhesus negative (Rh-). Allele Rhesus positive is dominant to allele Rhesus negative.

Rhesus Factor in Human

A Rhesus negative mother who becomes pregnant by a Rhesus positive heterozygous father has a 0.5 probability of having a child who is Rhesus positive. If the father is homozygous dominant for Rhesus positive, then the child would be Rhesus positive.

Rhesus Factor in Human

Problem will arise during pregnancy if the mother is Rh neg and the child is Rh pos. During late pregnancy or during birth, some of the foetal blood cells may enter the mothers blood. This triggers the mothers blood to produce anti-rhesus antibodies. The harmful effects do not show in the first pregnancy.

Rhesus Factor in Human

When the mother get second pregnancy, the antibodies level builds up in the maternal bloodstream. Her anti-rhesus antibodies may cross the placenta and cause agglutination and haemolysis of the foetal red blood cells. The condition is known as erythroblastosis fetalis. The baby may suffers from jaundice, severe anemia and damage of the heart, liver and brain.

Human Autosomes and Sex Chromosomes

Each human somatic (body) cell contains 46 chromosomes. There are 22 homologous pairs of autosomes and one pair of sex chromosomes. Autosomes are chromosomes that occur in homologous pairs in both males and females. They do not contain gene that control sex determination. They have identical appearance in both male and female.

Human Autosomes and Sex Chromosomes

Sex chromosomes are the chromosomes containing genes that determine the sex of an organism. Human females have two identical sex chromosomes called X chromosomes. Human males have one X chromosome and one smaller Y chromosome. The Y chromosome carries fewer genes than the X chromosome.

Human Karyotype

Male Karyotype

Female Karyotype

Human Autosomes and Sex Chromosomes

Downs syndrome is an example where an individual has an abnormal number of autosomes. The individual has trisomy 21 that is three chromosome 21 instead of two chromosome 21. It is the result of non-disjunction during meiosis where the two homologous chromosome 21 fail to separate normally during anaphase I or anaphase II of meiosis.

Downs Syndrome

Individuals with Downs syndrome have flat, broad faces, slanted eyes, a protruding eyes, protruding tongue, short palms and tend to be mentally retarded. The risk of having a Downs syndrome child increases with maternal age.

Downs Syndrome
The karyotype of a person with Downs Syndrome

Trisomy 21

Sex Determination In Human

During the formation of gametes in the female, the sex chromosome segregate (separate), all the female eggs produced contain 22 autosomes and one X chromosome. The human male produces two types of sperms: sperms with 22 autosomes and one X chromosome and sperms with 22 autosomes and one Y chromosome.

Sex Determination In Human

As the mothers egg (ovum) contains only X chromosome, it is therefore the fathers sperm that determines the sex of the child. If the sperm carrying an X chromosome fertilises the ovum, the child is female. If the sperm carrying a Y chromosome fertilises the ovum, the child is male.

Sex-linked Inheritance in Humans

Humans have a pair of sex chromosomes. However, not all genes located on these chromosomes are involved in sex determination. These genes that are not involved in sex determination are called sex-linked genes. Most sex-linked genes are carried by the X chromosome because X chromosome larger than the Y chromosome and can carry more genes.

Examples of sex-linked disease

Haemophilia Hereditary sex-linked disease caused by recessive allele found on the X chromosome. When there is injury, the blood clots very slowly owing to the lack of blood-clotting factors This leads to excessive loss of blood. Affects males more than females. In females, if only one X chromosome carries the recessive allele, its effect will be masked by the dominant allele on the other X chromosome. These heterozygous females (XHXh) are carriers. They do not suffer the disease but may pass the recessive allele on to their offspring. Female will suffer from the disease if only she inherits both recessive alleles ( XhXh) from her parents. Males need to have only one recessive allele (XhY) to inherit the disease.

Examples of sex-linked disease

Colour blindness
Unable to see the difference between all or some colours. Most common example is red-green colour blindness. Caused by recessive allele located on the X chromosome. More common in males than females.

Hereditary diseases
Hereditary diseases are disorders that can be inherited. Some hereditary diseases are caused by defective genes found on the autosomes. Eg: Cystic fibrosis, albinism, sickle cell anemia and thalassemia. Other hereditary diseases are sex-linked commonly X-linked. Eg: red-greed colour blindness, haemophilia, Duchenne muscular dystrophy.

Chromosomes and Genes

A gene is a basic unit of inheritance. The traits which you inherit from your parents are controlled by genes found on the chromosomes in the nucleus. Human somatic cell contains 23 pairs of chromosomes. Each chromosome is made up of a long DNA (deoxyribonucleic acid) molecule coiled around protein molecules called histones A DNA molecule contains thousands of genes which code for the synthesis of specific proteins.

Chromosomes and Genes

A DNA molecule made up of basic units called nucleotides. A nucleotide is made up of a deoxyribose sugar, a nitrogenous base and a phosphate group. There are four different bases; adenine (A), thymine (T), cytosine ( C ) and guanine (G). There are four different nucleotides, each containing one of the four nitrogenous bases. A phosphate group of one nucleotide is linked to the deoxyribose sugar of the next nucleotide.

Structure of a DNA nucleotide

Chromosomes and Genes

A DNA molecule consists of two polynucleotide strands coiled together to form a double helix. The two strands are antiparallel that is facing the opposite directions. The base adenine linked to thymine, and cytosine to guanine by hydrogen bonds. The sequence of nitrogenous bases forms the genetic codes that determine the characteristics of organisms.

Application of Knowledge in Genetics to Mankind

Selective breeding
Apply in both animals and plants. To produce offspring that possess desirable characteristics of both parents. Eg: selection of suitable oil palm plants to produce a hybrid plant with desirable characteristics.

Application of Knowledge in Genetics to Mankind

Genetic engineering
Also known as recombinant DNA technology. Involves techniques used to alter characteristics of an organism by introducing target genes from another organism into its DNA. This modified DNA is known as recombinant DNA. The organism with the recombinant DNA is known as a genetically modified organism (GMO). Genetic engineering also used in gene therapy and commercial production of drugs such as insulin and vaccines for hepatitis B.

Application of Knowledge in Genetics to Mankind

DNA fingerprinting (DNA profiling)
Can be used for identification purposes in solving criminal cases and paternity disputes. Also used to detect human genetic diseases and to confirm the genotypes of animals and plants in agriculture.

DNA Fingerprint

Human Genome Project

A genome is an organisms complete set of genes made up of DNA nucleotide bases. The human genome project was formed to:
Determine the sequence of all the base pairs found in the DNA of human genome. Make maps showing the exact locations of genes for major sections in human chromosomes. Produce linkage maps where inherited traits, for example, genetic diseases can be tracked over generations.