Goldstein D R
Department of Statistics, University of California, Berkeley 94720.
Am J Hum Genet. 1994 Oct;55(4):841-8.
This paper focuses on the problem of testing for heterogeneity once linkage is established. In an investigation of genetic linkage, Morton first proposed a general purpose test to detect heterogeneity in the recombination fraction. Two more commonly used tests of linkage heterogeneity are the admixture test (A-test) of Smith, Ott, and Risch and Baron, and the B-test of Risch. All are likelihood-ratio tests, but they differ in the models specifying the heterogeneity. A new test of heterogeneity in the presence of linkage is presented here. I propose a mixture model of heterogeneity, which allows the recombination fraction to vary among families, as does the B-model, yet also allows some families to be unlinked, as the A-model does. This model contains the A and B models as special cases and thus allows a direct test (D-test), which can provide justification for choosing one of these extremes.
本文关注的是一旦建立连锁关系后异质性检验的问题。在一项基因连锁研究中，莫顿首先提出了一种通用检验方法，用于检测重组率中的异质性。另外两种更常用的连锁异质性检验方法是史密斯、奥特、里施和巴伦的混合检验（A检验）以及里施的B检验。所有这些都是似然比检验，但它们在指定异质性的模型方面有所不同。本文提出了一种在存在连锁关系时的新异质性检验方法。我提出了一种异质性混合模型，该模型允许重组率在不同家族间变化，这与B模型一样，但也允许一些家族不存在连锁关系，这与A模型一样。此模型包含A模型和B模型作为特殊情况，因此允许进行直接检验（D检验），该检验可为选择这两种极端情况之一提供依据。
