Collins A, MacLean C J, Morton N E
University of Southampton, Princess Anne Hospital, Hants, United Kingdom.
Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9177-81. doi: 10.1073/pnas.93.17.9177.
Theoretical advantages of nonparametric logarithm of odds to map polygenic diseases are supported by tests of the beta model that depends on a single logistic parameter and is the only model under which paternal and maternal transmissions to sibs of specified phenotypes are independent. Although it does not precisely describe recurrence risks in monozygous twins, the beta model has greater power to detect family resemblance or linkage than the more general delta model which describes the probability of 0, 1, or 2 alleles identical by descent (ibd) with two parameters. Available data on ibd in sibs are consistent with the beta model, but not with the equally parsimonious but less powerful gamma model that assumes a fixed probability of 1/2 for 1 allele ibd. Additivity of loci on the liability scale is not disproven. A simple equivalence extends the beta model to multipoint analysis.
非参数对数优势法用于绘制多基因疾病图谱的理论优势,得到了β模型检验的支持。该β模型依赖于单个逻辑参数,是唯一一种情况下,向特定表型同胞的父系和母系传递是独立的模型。尽管它不能精确描述同卵双胞胎的复发风险,但与更通用的δ模型相比,β模型在检测家族相似性或连锁方面具有更强的能力。δ模型用两个参数描述了两个等位基因通过血缘相同(ibd)的概率为0、1或2的情况。同胞中ibd的现有数据与β模型一致,但与同样简约但能力较弱的γ模型不一致,γ模型假设1个等位基因ibd的固定概率为1/2。位点在易患性尺度上的可加性并未被推翻。一个简单的等价关系将β模型扩展到多点分析。