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14 - Variation within the inherited genotype

from Part IV - Modification of the inherited genotype: the time dimension in individuals

Published online by Cambridge University Press:  05 June 2012

Kenneth M. Weiss
Affiliation:
Pennsylvania State University
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Summary

A beautiful theory slain by an ugly fact.

After T. H. Huxley ‘Biogenesis and abiogenesis’ (1892)

An exception disproves the rule.

A. Conan Doyle, The Sign of the Four (1890)

Some of our basic ideas about genes and their transmission have been established for nearly a century. One of these is Mendel's Law of Segregation, from which we derived the transmission probabilities (τs) given in Chapter 5. However, as noted earlier in this book, some investigators estimate these probabilities from the general likelihood in families rather than specifying them, and the estimates are sometimes significantly different from the mendelian values of 0, ½ and 1. A second basic principle of classical genetics is that genes are faithfully transmitted during mitosis, so that all of our somatic cells have the original inherited genotype. The process of somatic rearrangement in immunoglobulin and TcR genes shows that this postulate, also, is not always correct.

This chapter shows various other ways in which violations of these classical assumptions have important effects on the pattern of genotypes in families and the relationships between genotype and phenotype. The term non-traditional inheritance is often used for such phenomena {Hall, 1990a,b; Holliday, 1987, 1989; Solter, 1988}, but the mechanisms have always been there whether part of our ‘traditions’ or not!

Type
Chapter
Information
Genetic Variation and Human Disease
Principles and Evolutionary Approaches
, pp. 273 - 285
Publisher: Cambridge University Press
Print publication year: 1993

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