Principles of Inheritance and Variation

Class 12 Biology · Biology · Chapter 4

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Summary

This chapter introduces genetics through Mendel's experiments on the garden pea, establishing the principles of inheritance. Mendel's monohybrid crosses gave the Law of Dominance and the Law of Segregation, while dihybrid crosses gave the Law of Independent Assortment, expressed through phenotypic ratios such as 3:1 and 9:3:3:1. Deviations from Mendelian ratios are explained by incomplete dominance (Snapdragon), co-dominance (ABO blood groups), multiple allelism, pleiotropy and polygenic inheritance (human skin colour). The chromosomal theory of inheritance, proposed by Sutton and Boveri, links genes to chromosomes, supported by Morgan's work on Drosophila showing linkage and recombination, and the construction of genetic maps. Sex determination mechanisms (XX-XY, XX-XO, ZZ-ZW) and the chromosomal basis of sex are explained, along with the role of environment. Mutations, sudden heritable changes in DNA, and the resulting variations are described, including chromosomal aberrations (deletion, duplication) and point mutations like in sickle-cell anaemia. The chapter concludes with the genetic basis of human disorders, classifying them as Mendelian (haemophilia, colour blindness, thalassaemia, sickle-cell anaemia, phenylketonuria) and chromosomal (Down's syndrome, Klinefelter's syndrome, Turner's syndrome).

Mendel's laws of inheritanceDeviations: incomplete dominance and co-dominanceChromosomal theory and linkageSex determinationMutation and variationGenetic disorders in humans

Key terms

Law of Segregation
Mendel's principle that the two alleles of a gene separate during gamete formation so that each gamete carries only one allele.
Incomplete dominance
A pattern where the heterozygote shows a phenotype intermediate between the two homozygotes, as in pink-flowered snapdragon.
Co-dominance
A pattern where both alleles express themselves fully and independently in the heterozygote, as in AB blood group.
Linkage
The tendency of genes located close together on the same chromosome to be inherited together.
Pleiotropy
A condition where a single gene affects multiple, apparently unrelated phenotypic traits.
Aneuploidy
Gain or loss of one or more chromosomes due to failure of segregation (non-disjunction), as in Down's syndrome (trisomy 21).

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The phenotypic ratio of a typical dihybrid cross in F2 is:
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