New PDF release: Model categories: theory and applications

By Noam Kantor

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Disorders of the Motor Unit. N e w Y o r k , Wiley. 10, Chapter 3 Genetic counselling in non-mendelian disorders A large group of disorders exists in which there appears to be a considerable genetic c o m p o n e n t , but which follows no clear pattern of mendelian inheritance and shows no identifiable abnormality in chromosome morphology. T h e terms 'polygenic' and 'multifactorial' inheritance have been used to cover this group, but in reality there is no single category that is satisfactory.

It is crucial, however, to be sure that genetic heterogeneity does not exist, because if the parents' disorders are controlled by different loci, all offspring will be unaffected, although carriers at both loci; a greater potential for erroneous counselling cannot be imagined! ) In the case of albinism careful study will usually distinguish the two forms (see Chapter 16). In severe congenital deafness, however, this is impossible, so that advice must be based on knowledge of the n u m b e r and relative frequency of the different types, and on whether the couple concerned have already had affected or normal children.

Empiric risk figures are given for as many disorders as possible in the specific sections of this book. T h e aspects to be discussed here are m o r e general ones which 42 Genetic counselling in non-mendelian disorders 43 will influence how these risk figures are applied and will also allow estimation of risks when no data derived from direct experience are available. The basis of 'multifactorial' inheritance T h e essential distinguishing factor from the mendelian disorders is that a single genetic locus cannot be held responsible for the condition and that it is the result of the additive effect of a n u m b e r of genetic loci and of a n u m b e r of external factors.

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Model categories: theory and applications by Noam Kantor

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