人类遗传疾病中的亲代隐性等位基因频率和隐性存活率。
Parental recessive allele frequency and recessive survival rate in human genetic disorders.
作者信息
Severn D J
出版信息
Am J Hum Genet. 1982 Sep;34(5):818-9.
Abstract
Undetected prenatal losses of homozygous recessives suggest a need for an approach to estimation of parental recessive allele frequency (q) that avoids the observed filial recessive frequency (R) in calculation. This need is met by the equation q = H/(2D + H), in which D and H represent observed filial homozygous dominant and heterozygote frequencies, respectively. Survival (w) of recessive offspring between conception and time of detection can then be estimated with the equation w = 4DR/H(2).
摘要
纯合隐性基因未被检测到的产前损失表明，需要一种估计亲代隐性等位基因频率（q）的方法，该方法在计算中避免使用观察到的子代隐性频率（R）。方程q = H/(2D + H)满足了这一需求，其中D和H分别代表观察到的子代纯合显性和杂合子频率。然后，可以使用方程w = 4DR/H²估计隐性后代从受孕到检测时的存活率（w）。
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