Unit 3
Lecture first
Multiple allele and multiple gene
inheritance
Introduction of genes and allele
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Allele →Alleles are forms or version of the
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Genes →A gene is the basic physical and
same gene with small differences in their
functional unit of heredity.
sequence of DNA bases.
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Genes are made up of DNA. ●
These small differences contribute to each
person’s unique physical features.
Multiple allelism
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“ Multiple allelism is a genetic condition in which there are more than two alleles (alternative forms of
a gene) at a single locus (position) on a chromosome within a population.”
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Multiple alleles are resides in a same locus on the chromosome.
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The concept of multiple alleles holds true for a population and it should not be misinterpreted at the individual
level.
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There are several traits that are governed by multiple alleles, such as ABO blood group system in
humans, coat color in rabbits, and self-incompatibility in crop plants.
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Multiple alleles have a similar inheritance pattern as that of two alleles but multiple alleles may have a large
number of genotypes and phenotypes.
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Multiple alleles makes population polymorphic which is pre-requisite for natural selection.
The general
formula to calculate the possible number of genotypes
Formula = n(n + 1)/2 Formula = n(n + 1)/2 +n
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where n stands for number of alleles
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where n stands for number of alleles involved.
involved.
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This formula workout when alleles located on ●
This formula workout when alleles located on
autosome chromosome (diploid organisms).
sex chromosome (diploid organisms).
Cause of multiple allele
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The mutation causes a change in DNA sequence of a gene, leading to the emergence of an alternative form
of a gene (allele/mutant) .
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Multiple alleles, are thus, changed DNA sequences of a gene, arises due to mutation at a locus.
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Alleles are frequent in population are called wild type and those less frequent known as mutant type.
ABO blood group system
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Study on human blood type led to the discovery of ABO blood group system by Karl Landsteiner in the early
1900s.
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He awarded with Nobel Prize in Physiology or medicine for the discovery of the human blood group in 1930.
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A single gene with multiple alleles IA, IB, and i is responsible for the ABO blood group system where the symbol “I”
stands for the isoagglutinogen or antigen.
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The ABO gene is located on chromosome 9 and has three alleles, A, B and O. The H blood group locus located
on chromosome 19.
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In the ABO blood group system, the A and B antigens are present on the surface of red blood cells. These
antigens are carbohydrates (sugars) that are attached to proteins or lipids on the surface of the cell membrane.
Molecular aspect of ABO blood group
Synthesis of H/O antigen →
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Almost all individuals having glycolipids are called as H antigen. It is made up of chemically linked
galactose (Gal), N-acetylglucosamine (AcGluNH), and Fucose.
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Addition of Fucose to the precursor was done by α 1,2 fucosyltranferase (H transferase) enzyme led to the
formation of H antigen.
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As i allele is recessive to both IA and IB allele, it is incapable of producing functional O transferse enzyme.
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Inactive enzyme cannot add any terminal sugar to the H antigen, therefore, only H antigen is present in O
type of blood group.
Synthesis of “A” antigen →
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IA allele is responsible for the synthesis of “A” antigen.
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IA allele encodes acetylgalactosaminyltransferase (A transferase) enzyme, which is involved in the
conversion of H antigen to “A” antigen.
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A transferase enzyme addition of N galactosamine to the H antigen with the help of A transferase enzyme
led to the synthesis of “A” antigen.
Synthesis of “B” antigen →
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IB allele encodes α 1,3 galactosyltransferase (B transferase) enzyme.
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B transferase enzyme adds galactose to the H antigen.
Note →
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The inheritance of a blood group is used to solve cases of disputed maternity or paternity. For example,
parents with O blood type cannot have a child with AB blood type (alone these data are insufficient for legal
purposes).
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Based on blood group inheritance, we cannot prove that an individual is a parent instead, we can only
determine that an individual is not a parent of a particular child.
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Antigen-antibody relationship in the ABO blood group system is an important aspect in determining the
protocol for blood transfusion.
Molecular aspect of ABO blood group
Bombay blood type
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The H antigen is an important precursor for the ABO blood group system.
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It is produced by the activity of the α 1,2 fucosyltransferase (H transferase) enzyme, which is encoded by the
dominant H gene.
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The H blood group locus located on chromosome 19.
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In rare cases, individuals may inherit two copies of a rare mutation in the dominant H gene, resulting in
the inability to produce the H transferase enzyme, which leads to the absence of H antigen. This is known as
the Bombay phenotype or the h/h genotype.
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Individuals with the Bombay phenotype cannot produce A or B antigens, regardless of the presence of IA and
IB alleles.
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Individuals with the Bombay phenotype are similar to the O blood group type, but they are different in
that they produce anti-O antibodies, whereas individuals with O blood type do not.
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This information is useful in solving cases of disputed maternity or paternity, as it provides insight into the
likelihood of biological relationships between individuals based on their blood group inheritance.
Pedigree showing Bombay blood type
Thank you !
