一种用于检测家族性疾病中连锁关系的可靠方法。
A robust method for the detection of linkage in familial disease.
作者信息
Fishman P M, Suarez B, Hodge S E, Reich T
出版信息
Am J Hum Genet. 1978 May;30(3):308-21.
A nonparametric method for the detection of critical genes associated with familial disease was presented. The method involves the detection of deviations from expected identity by descent distributions at polymorphic marker loci for affected sib pairs. The method thus avoids the difficulties arising from incomplete penetrance, variable age of onset and other complications present in other forms of linkage analysis. The theoretical properties of method were worked out in detail for two important cases -- that of an incompletely penetrant recessive or incompletely penetrant dominant critical autosomal gene linked to a codominant marker locus. An easily implementable decision rule for the detection of linkage was proposed, and its operating characteristics for a variety of alternative hypothesis were obtained.
提出了一种用于检测与家族性疾病相关的关键基因的非参数方法。该方法涉及检测患病同胞对在多态性标记位点上预期的同源性分布偏差。因此，该方法避免了其他形式的连锁分析中由于不完全外显率、发病年龄可变和其他并发症所带来的困难。针对两个重要情况详细推导了该方法的理论性质，即与共显性标记位点连锁的不完全外显隐性或不完全外显显性关键常染色体基因的情况。提出了一种易于实施的连锁检测决策规则，并获得了其在各种备择假设下的操作特征。
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