近亲结婚父母所生孩子中的常染色体隐性疾病：来自复合杂合子比例的推断
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes.
作者信息
Ten Kate Leo P, Teeuw Marieke, Henneman Lidewij, Cornel Martina C
机构信息
Department of Clinical Genetics, Community Genetics Section, and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
出版信息
J Community Genet. 2010 Mar;1(1):37-40. doi: 10.1007/s12687-010-0002-4. Epub 2010 Feb 25.
Abstract
This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings.
摘要
这篇简短的通讯探讨了以下问题
如何计算近亲父母的患病后代中复合杂合子患者的预期比例，以及如何根据观察到的复合杂合子比例，计算非同源纯合子的比例和人群中致病等位基因的频率。在处理有大量近亲交配的人群时，这种等位基因频率的估计可能会很有用。
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