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Genetics, biology and multifactorial diseases

机译:遗传,生物学和多因素疾病

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The schematic concept of "levels of causal interaction" is applied to the relation between genetics and biology. The strength of classical formal genetic lies in its power to proceed directly from observations on an external phenotype, to inferences concerning the nature and properties of the fundamental genetic factors. Its weakness comes from the fact that by short-circuiting the causal chain leading from genotype to phenotype, it creates a divorce between genetics and biology. It is argued that in order to reestablish an articulation of genetics and the biology of whole organisms, it will be necessary to study in detail the entire causal chain leading from a difference in a genetic factor to a difference in a corresponding phenotypic character. This proposal is illustrated by a consideration of multifactorial diseases, which appear to be due to strong interactions between a moderate number of distinct loci; the frequency of "abnormal" alleles at any given locus may be surprisingly high.
机译:“因果相互作用水平”的概念性概念适用于遗传学和生物学之间的关系。经典形式遗传学的优势在于它有能力直接从对外部表型的观察出发,进行有关基本遗传因子的性质和特性的推断。它的弱点来自于这样一个事实,即通过使从基因型到表型的因果链短路,它在遗传学和生物学之间造成了离婚。有人认为,为了重建遗传学和整个生物的生物学联系,有必要详细研究从遗传因素的差异到相应表型特征的差异的整个因果链。考虑到多因素疾病可以说明这一建议,这似乎是由于中等数量的不同基因座之间的强烈相互作用所致。在任何给定位点的“异常”等位基因的频率可能出奇地高。

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