Van der Meulen M A, te Meerman G J
Department of Medical Genetics, University of Groningen, The Netherlands.
Genet Epidemiol. 1997;14(6):915-20. doi: 10.1002/(SICI)1098-2272(1997)14:6<915::AID-GEPI59>3.0.CO;2-P.
In diseases with a complex mode of inheritance, families with multiple affected individuals are difficult to ascertain. The haplotype sharing statistic (HSS) uses (hidden) co-ancestry between affected individuals from a founder population. These affected individuals will likely not only share the same mutation(s), but also the surrounding haplotype. We show that this method gives a low false positive rate, but does not detect genes in the nuclear families of Problem 2A of the GAW data. We also give evidence based on simulations and empirical studies in real population based data that the HSS method has statistical power.
在具有复杂遗传模式的疾病中，很难确定有多个患病个体的家系。单倍型共享统计量（HSS）利用创始人群体中患病个体之间的（隐藏）共同祖先关系。这些患病个体不仅可能共享相同的突变，还共享周围的单倍型。我们表明，该方法的假阳性率较低，但无法检测出GAW数据中问题2A的核心家系中的基因。我们还基于模拟以及基于实际人群数据的实证研究提供证据，表明HSS方法具有统计学效力。
