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The Practical Guide to the Genetic Family History - Bennett L.R.

Bennett L.R. The Practical Guide to the Genetic Family History - Wiley-liss, 1999. - 265 p.
ISBN 0-471-22391-3
Download (direct link): thepracticalguidetot1999.pdf
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The Practical Guide to the Genetic Family History. Robin L. Bennett
Copyright © 1999 Wiley-Liss, Inc. ISBNs: 0-471-25154-2 (Paper); 0-471-22391-3 (Electronic)
Practical Inheritance
No genetic factor works in a void, but in an environment which may help or hinder its expression.
—Eliot Slater (1936)
THE MYTH OF MENDEL
In some far-off recess of each human mind hides the Mendelian rules of inheritance that we learned in our early school education. Like many ideas of the 1860s, the principles of Gregor Mendel do not reflect the changing times. Should we be surprised that inheritance patterns in humans are more complex than in garden peas, or that an Augustinian monk is an unlikely resource on matters of human reproduction?
Mendel’s laws work under the simple assumptions that genetic factors are transmitted from each parent as discrete units that are inherited independently from one another and passed (unaltered) from one generation to the next. Thus begins the myth of Mendel. We now know that genes do not function in isolation, but interact with each other and the environment (for example, modifying genes and regulating elements of genes). Genes that are in close proximity to each other may be inherited as a unit rather than independently (such as in contiguous gene syndromes). Some genes are indeed altered from one generation to the next, as is evidenced by dynamic mutations (seen in trinculeotide repeat disorders), new mutations, and parental imprinting. Mendelian principles really become obsolete when applied to mitochondrial inheritance because in this instance there is no paternal genetic contribution!
Despite these caveats, it is still useful to divide hereditary conditions into three classic inheritance patterns: single gene (classic Mendelian), multifactorial or polygenic, and chromosomal. Single gene disorders are classified by whether they are dominant or recessive and by their locations on the chromosomes. Genes for autosomal disorders are on one of the 22 pairs of non-sex chromosomes (autosomes). Genes for sex-linked disorders are on the X or Y chromosomes. Sporadic inheri-
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14 PRACTICAL INHERITANCE
tance usually refers to the one-time occurrence of a condition. In this instance, unaffected siblings usually do not have affected children but the parents may have a risk of recurrence due to factors such as gonadal mosaicism and parental imprinting.
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