lecture 3

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MENDELIAN’S

INHERITANCE
INTRODUCTION

 Father of genetics-Gregor Johann Mendel(1822-1884).


 From 1857 to 1863, Mendel crossed and cataloged some 24,034 plants, through several
generations.
 He deduced that consistent ratios of traits in the offspring indicated that the plants
transmitted distinct units, or “elementen.”
 He derived two hypotheses to explain how inherited traits are transmitted.
 Mendel’s hypotheses became laws because they apply as much to pea plant traits as they
do to human families with inherited disease.
Terminology

 Allele – One alternative form of a given gene pair. Tall and dwarf
are the alleles for the height of a pea plant.
 Homozygote – An individual which contains only one allele at the allelic pair. For
example DD is homozygous dominant and dd is homozygous recessive.
 Heterozygote – An individual that contains two different alleles at
the allelic pair. For example the Dd is Heterozygote.
 Genotype – The genetic makeup or constitution of an individual with reference to the
character under consideration usually expressed by a symbol (like TT, tt or Tt).
 Phenotype – The external appearance of an individual for a particular
gene example tallness or dwarfness.
 F1 or first filial generation – The first generation of given cross.
 F2 or second filial generation – The second generation which is
produced by in breeding or selfing of F1 offspring.
 Gamete – A sex cell having Haploid set of chromosomes and produced
by meiotic cell division of a diploid cell.
 Backcross- The cross of an F1 hybrid to one of the homozygous
parents. For pea plant height, the cross would be Dd x DD or Dd x dd.
 Testcross - The cross of any individual to a homozygous recessive
parent. Used to determine if the individual is homozygous dominant or
heterozygous.
 Monohybrid cross - Cross between parents that differ at a single allelic
pair (usually AA x aa)
 Monohybrid - The offspring of two parents that are homozygous for
alternate alleles of a gene.
 Dominance - A phenomenon in which one member of a pair of allelic
genes expresses itself completely or in part by suppressing the other.
Experiments with Pea Plants

 Seed coat colour (gray or white)


 Seed shape (round or wrinkled)
 Seed colour (yellow or green)
 Pod colour (green or yellow)
 Flower position (axial or terminal)
 Pod shape (inflated or constricted)
 Stem length (tall or dwarf)
Mendel's Law Of Dominance

When two homozygous


individuals with one or
more set of contrasting
characters are crossed,
the characters that
appear in F1 hybrids are
dominant characters and
they do not appear in F1
are recessive characters.
Mendel's Law Of Segregation

The two coexisting alleles of an individual for each trait segregate


during gamete formation so that each gamete gets only one of the two
alleles. Alleles again unite at random fertilization of gametes.

It states that when a pair of contrasting factors or genes are brought


together in a heterozygote the two members of the allelic pair remain
together without being contaminated and when gametes are formed
from the hybrid, the two separate out from each other and only one
enters each gametes.
Monohybrid Cross

A cross between 2 individuals with homozygous genotypes, who have either completely
recessive alleles or dominant alleles, which may result in opposite phenotype for a certain
genetic trait is known as monohybrid cross.

The offspring's of such homozygous individuals express the heterozygous which are passed /
inherited from their parents.
Law of Independent Assortment

Mendel did his experiments by following only a single character at a time. Instead, one
can follow two characters at a time, to demonstrate the Law of Independent Assortment
If the inheritance of more than one pair of characters is studied simultaneously the
factors or genes for each pair of character assort out independently of the other pairs.
These experiments use what’s called a dihybrid cross.
Testing two hypotheses for segregation in a dihybrid cross. Note that
the combination of two traits gives a 9:3:3:1 ratio.
DIHYBRID CROSS

In Dihybrid cross individuals which defer in 2 traits of P generation (Parent Generation) are
bred for experimental purposes.
One of the parent possesses homozygous dominant alleles and the other one has homozygous
recessive alleles.
The F1 generation produced from such genetic cross are all heterozygous for a specific trait
which is being studied.
Single gene inheritance in Humans

Transmission of single genes in humans is called Mendelian, unifactorial, or


single-gene inheritance
Even the most familiar Mendelian disorders, such as sickle cell disease and Duchenne
muscular dystrophy, are rare, compared to infectious diseases, cancer, and multifactorial
disorders.
Mendelian conditions typically affect 1 in 10,000 or fewer individuals.
Modes of Inheritance

 Modes of inheritance are rules that explain the common patterns that inherited
characteristics follow as they are passed through families.
 Knowing the mode of inheritance makes it possible to calculate the probability that a
particular couple will have a child who inherits a particular condition.
 Mendel derived his laws by studying traits carried on autosomes (non-sex chromosomes).
 The way those laws affect the modes of inheritance depend on whether a trait is transmitted
on an autosome or a sex chromosome, and whether an allele is recessive or dominant.
 Autosomal dominant and autosomal recessive are the two modes of inheritance directly
derived from Mendel’s laws
 X chromosome inheritance is an extension to this law
 Y linked inheritance is very rare because Y chromosomes has very few genes.
Autosomal Dominant Inheritance

 In autosomal dominant inheritance, a trait can appear in either sex because an autosome
carries the gene.
 If a child has the trait, at least one parent must also have it.
 Autosomal dominant traits do not skip generations.
 If no offspring inherit the trait in one generation, its transmission stops because the
offspring can pass on only the recessive form of the gene.
 Figure 4.7 uses a Punnett square to predict the genotypes and phenotypes of offspring of a
mother who has an autosomal dominant trait and a father who does not.
Autosomal Recessive Inheritance

 An autosomal recessive trait can appear in either sex.


 Affected individuals have a homozygous recessive genotype, whereas in heterozygotes—also
called carriers—the wild type allele masks expression of the mutant allele.
 Calculating probability
 Mendel’s first law can be used to calculate the probability that an individual will have either
of two phenotypes. The probabilities of each possible genotype are added.
 For example,
 the chance that a child whose parents are both carriers of cystic fibrosis will not have the condition
is the sum of the probability that she has inherited two normal alleles (1/4) plus the chance that she
herself is a heterozygote (1/2), or 3/4.
 Note that this also equals one minus the probability that she is a homozygous recessive who has the
condition.
 The ratios that Mendel’s first law predicts for autosomal recessive inheritance apply to
each offspring anew, just as a tossed coin has a 50 percent chance of coming up heads with
each throw, no matter how many heads have already been thrown.
 Each child faces the same 25 percent risk of inheriting the condition.
 Consanguinity
 Most autosomal recessive conditions occur unexpectedly in families. However, blood relatives
who have children together have a much higher risk of having a child with an autosomal recessive
condition.
 Marriage between relatives produces consanguinity, which means “shared blood”
 Consanguinity increases the likelihood of disease because the parents may have inherited the
same mutant recessive allele from the same grandparent
 Dominance and recessiveness reflect the characteristics or abundance of the products.
Inheritance of Two Genes—
Independent Assortment
 The second law states that for two genes on different chromosomes, the inheritance of one
does not influence the chance of inheriting the other. T
 The two genes thus “independently assort” because they are packaged into gametes at
random (Fig 4.9)
 Two genes that are far apart on the same chromosome also appear to independently assort,
because so many because so many crossovers occur between them that the effect is as if
they are carried on separate chromosomes
Mendel’s Experiment
Dihybrid cross
 Seed shape----Round and wrinkled (determined by R gene)
 Seed color -----yellow and green (determined by Y gene)
 True breeding plants were crossed
 Round, yellow seeds
 wrinkled, green seeds,
 All the progeny had round, yellow seeds. These offspring were double heterozygotes, or
dihybrids, of genotype RrYy
 Mendel deduced that round is dominant to wrinkled, and yellow to green.
 Next, he bred the dihybrid plants to each other in a dihybrid cross, so named because two
individuals heterozygous for two genes are crossed.
 ratio of 9:3:3:1.

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