Inheritance _inheritance
Inheritance _inheritance
He conducted some hybridization experiments on garden peas (Pisum sativum) for 7 years
(1856-1863).
Dominant Recessive
1. Stem height Tall Dwarf
2. Flower colour Violet White
3. Flower position Axial Terminal
Monohybrid cross: A cross involving 2 plants differing in one character pair. E.g. Mendel
crossed tall and dwarf pea plants to study the inheritance of one gene.
= 1:2:1
Mendel made similar observations for other pairs of traits. He proposed that some factors were
inherited from parent to offspring. Now it is called as genes.
Do not use T for tall and d for dwarf because it is difficult to remember whether T & d are
alleles of same gene or not.
The F1 (Tt) when self-pollinated, produces gametes T and t in equal proportion. During
fertilization, pollen grains of T have 50% chance to pollinate eggs of T & t. Also, pollen grains of t
have 50% chance to pollinate eggs of T and t.
Tt x Tt
= (½ T + ½ t) (½ T + ½ t)
= ¼ TT + ¼ Tt + ¼ Tt + ¼ tt
= ¼ TT + ½ Tt + ¼ tt
He found that dwarf F2 plants continued to generate dwarf plants in F3 & F4.
Test cross is used to find out the unknown genotype of a character. E.g.
“During gamete formation, the factors (alleles) of a character pair present in parents segregate
from each other such that a gamete receives only one of the 2 factors”.
E.g. Cross b/w pea plant with homozygous round shaped & yellow coloured seeds (RRYY) and
wrinkled shaped & green coloured seeds (rryy).
On observing the F2, Mendel found that yellow and green colour segregated in a 3:1 ratio.
The ratio of 9:3:3:1 can be derived as a combination series of 3 yellow: 1 green, with 3 round: 1
wrinkled.
1:2:1:2:4:2:1:2:1
RRYY =1
RRYy =2
RrYY =2
RrYy =4
RRyy =1
Rryy =2
rrYY =1
rrYy =2
rryy =1
It states that “When two pairs of traits are combined in a hybrid, segregation of one pair of
characters is independent of the other pair of characters”.
In the first case: The modified allele will produce the same phenotype like unmodified allele.
Thus, modified allele is equivalent to unmodified allele.
In 2nd and 3rd cases: The phenotype will dependent only on the functioning of the unmodified
allele. Thus the modified allele becomes recessive.
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Unknown
August 5, 2020 at 5:35 PM
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Upendra
December 13, 2020 at 8:51 AM
E.g. Flower colour in snapdragon (dog flower or Antirrhinum sp.) and Mirabilis jalapa (4’O clock
plant).
Here, cross between homozygous red & white produces pink flowered plant. Thus phenotypic &
genotypic ratios are same.
2. Co-dominance
This gene controls the production of sugar polymers (antigens) that protrude from plasma
membrane of RBC.
IA and IB produce a slightly different form of the sugar while allele i doesn’t produce any sugar.
IA IA IA I A A
IA IB IA I B AB
IA i IA i A
IB IA IA I B AB
IB IB IB I B B
IB i IB i B
i i ii O
When IA and IB are present together, they both express their own types of sugars. This is due to
co-dominance.
3. Multiple allelism
It is the presence of more than two alleles of a gene to govern same character.
In an individual, only two alleles are present. Multiple alleles can be found only in a population.
4. Polygenic inheritance
It is the inheritance in which some traits are controlled by several genes (multiple genes).
In a polygenic trait, the phenotype reflects the contribution of each allele, i.e., the effect of each
allele is additive.
The dominant forms A, B & C responsible for dark skin colour and recessive forms a, b & c for
light skin colour.
Genotype with all the dominant alleles (AABBCC) gives darkest skin colour.
Genotype with all the recessive alleles (aabbcc) gives lightest skin colour.
Therefore, genotype with 3 dominant alleles and 3 recessive alleles gives an intermediate skin
colour.
Thus, number of each type of alleles determines the darkness or lightness of the skin.
5. Pleiotropy
Here, a single gene exhibits multiple phenotypic expressions. Such a gene is called pleiotropic
gene.
In most cases, the mechanism of pleiotropy is the effect of a gene on metabolic pathways
which contributes towards different phenotypes.
In Phenylketonuria & sickle cell anaemia, the mutant gene has many phenotypic effects. E.g.
Phenylketonuria causes mental retardation, reduction in hair and skin pigmentation.
Starch is synthesized effectively by BB gene. Therefore, large starch grains are produced.
bb have lesser efficiency in starch synthesis and produce smaller starch grains.
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In 1900, de Vries, Correns & von Tschermak independently rediscovered Mendel’s results.
They said that pairing & separation of a pair of chromosomes lead to segregation of a pair of
factors they carried.
Sutton united chromosomal segregation with Mendelian principles and called it the
chromosomal theory of inheritance. It states that,
Genes (factors) are present on chromosomes. Hence genes and chromosomes show similar
behaviours.
Thomas Hunt Morgan proved chromosomal theory of inheritance using fruit flies (Drosophila
melanogaster).
Linkage is the physical association of two or more genes on a chromosome. They do not show
independent assortment.
Morgan carried out several dihybrid crosses in Drosophila to study sex-linked genes. E.g.
Cross 2: White-eyed, miniature winged X Red eyed, large winged (wild type)
• The two genes did not segregate independently and the F2 ratio deviated from the 9:3:3:1
ratio.
• Genes were located on the X chromosome.
• When two genes were situated on the same chromosome, the proportion of parental gene
combinations was much higher than the non-parental type. This is due to linkage.
• Genes of white eye & yellow body were very tightly linked and showed only 1.3%
recombination.
• Genes of white eye & miniature wing were loosely linked and showed 37.2% recombination.
• Tightly linked genes show low recombination. Loosely linked genes show high
recombination.
Alfred Sturtevant used the recombination frequency between gene pairs for measuring the
distance between genes and ‘mapped’ their position on the chromosome.
Genetic maps are used as a starting point in the sequencing of genomes. E.g. Human Genome
Project.
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Henking (1891) studied spermatogenesis in some insects and observed that 50 % of sperm
received a nuclear structure after spermatogenesis, and other 50 % sperm did not receive it.
Henking called this structure as the X body (now it is called as X-chromosome).
Human has 23 pairs of chromosomes (22 pairs of autosomes and 1 pair of sex chromosomes).
A pair of X-chromosomes (XX) is present in the female, whereas X and Y chromosomes are
present in male.
There is an equal probability of fertilization of the ovum with the sperm carrying either X or Y
chromosome.
Therefore, the females are diploid (32 chromosomes) and males are haploid (16
chromosomes). This is called as haplodiploid sex determination system.
In this system, the males produce sperms by mitosis. They do not have father and thus cannot
have sons, but have a grandfather and can have grandsons.
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It is a sudden heritable change in DNA sequences resulting in changes in the genotype and the
phenotype of an organism.
Mutation is 2 types:
1. Point mutation: The mutation due to change (substitution) in a single base pair of DNA. E.g.
sickle cell anaemia.
2. Frame-shift mutation: It is the deletion or insertion of base pairs resulting in the shifting of
DNA sequences.
The agents which induce mutation are called mutagens. They include
PEDIGREE ANALYSIS
In human, control crosses are not possible. So the study of family history about inheritance is
used.
Such an analysis of genetic traits in several generations of a family is called pedigree analysis.
The representation or chart showing family history is called family tree (pedigree).
In human genetics, pedigree study is utilized to trace the inheritance of a specific trait,
abnormality or disease.
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Select Your Topic Here
• Topic 1: Mendel's Experiments
• Topic 2: Inheritance of One Gene
• Topic 3: Inheritance of Two Genes
• Topic 4: Other Patterns of Inheritance
• Topic 5: Chromosomal Theory, Morgan's Experiment
• Topic 6: Sex Determination
• Topic 7: Mutation and Pedigree Analysis
• Topic 8: Genetic Disorders (Mendelian and Chromosomal)
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1. Mendelian Disorders
The pattern of inheritance of Mendelian disorders can be traced in a family by the pedigree
analysis.
In females, haemophilia is very rare because it happens only when mother is at least carrier and
father haemophilic (unviable in the later stage of life).
Queen Victoria was a carrier of hemophilia. So her family pedigree shows many haemophilic
descendants.
Colour blindness:
It is a sex-linked (X-linked) recessive disorder due to defect in either red or green cone of eye. It
results in failure to discriminate between red and green colour.
It occurs in 8% of males and only about 0.4% of females. This is because the genes are X-linked.
Normal allele is dominant (C). Recessive allele (c) causes colour blindness.
The son of a heterozygous woman (carrier, XCXc) has a 50% chance of being colour blind.
A daughter will be colour blind only when her mother is at least a carrier and her father is colour
blind (XcY).
Sickle-cell anaemia:
It can be transmitted from parents to the offspring when both the partners are carrier
(heterozygous) for the gene.
The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth
position of the β-globin chain of the haemoglobin (Hb).
This is due to the single base substitution at the sixth codon of the β-globin gene from GAG to
GUG.
The mutant Hb molecule undergoes polymerization under low oxygen tension causing the
change in shape of the RBC from biconcave disc to elongated sickle like structure.
Phenylketonuria:
It is due to mutation of a gene that codes for the enzyme phenyl alanine hydroxylase. This
enzyme converts an amino acid phenylalanine into tyrosine.
The affected individual lacks this enzyme. As a result, phenylalanine accumulates and converts
into phenyl pyruvic acid and other derivatives.
They accumulate in brain resulting in mental retardation. These are also excreted through urine
because of poor absorption by kidney.
Thalassemia:
2. Chromosomal disorders
They are caused due to absence or excess or abnormal arrangement of one or more
chromosomes.
2 types:
Down’s syndrome:
Features:
Klinefelter’s Syndrome:
Features:
• Overall masculine development. However, the feminine development is also expressed. E.g.
Development of breast (Gynaecomastia).
• Sterile.
• Mentally retarded.
• Turner’s syndrome: This is the absence of one X chromosome in female (monosomy).
Turner’s syndrome:
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Select Your Topic Here
• Topic 1: Mendel's Experiments
• Topic 2: Inheritance of One Gene
• Topic 3: Inheritance of Two Genes
• Topic 4: Other Patterns of Inheritance
• Topic 5: Chromosomal Theory, Morgan's Experiment
• Topic 6: Sex Determination
• Topic 7: Mutation and Pedigree Analysis
• Topic 8: Genetic Disorders (Mendelian and Chromosomal)
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2 Comments
Unknown
October 12, 2021 at 11:36 AM
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Unknown
November 14, 2021 at 5:21 PM
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