Sobel E, Davanipour Z, Alter M
Department of Neurology, Temple University School of Medicine, Philadelphia, Pa.
Neuroepidemiology. 1988;7(2):81-8. doi: 10.1159/000110139.
We consider the problem of testing that a disease with variable age at onset is an autosomal dominant or recessive genetic trait. Specific reference is made to Alzheimer's disease and recent publications proposing an autosomal dominant inheritance pattern. The pedigree structure allowed is restricted to first-degree relatives of the proband for the dominant and to sibs of the proband for the recessive hypotheses, respectively, in addition to the proband. The sampling method assumed is the one most often used in practice: single ascertainment or sampling pedigrees with probability proportional to size (pps), i.e., to the number of affected individuals within a pedigree who are in the sampling frame. The statistical methodology developed takes the sampling procedure into account and is a generalization of the Kaplan-Meier method of estimating survival functions to pps sampling.
一种发病年龄可变的疾病是常染色体显性还是隐性遗传性状。特别提及了阿尔茨海默病以及近期提出常染色体显性遗传模式的相关出版物。所允许的家系结构，对于显性假设分别限于先证者的一级亲属，对于隐性假设限于先证者的同胞，此外还包括先证者本人。所假定的抽样方法是实践中最常使用的方法：单次确定或按大小比例概率抽样（pps），即按家系内处于抽样框架中的患病个体数量进行抽样。所开发的统计方法考虑了抽样过程，是将用于估计生存函数的Kaplan-Meier方法推广到pps抽样。
