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针对无观察到双空白的HLA数据的两种检测方法和模型的等效性。

The equivalence of two tests and models for HLA data with no observed double blanks.

作者信息

Gart J J, Nam J M

机构信息

Biostatistics Branch, National Cancer Institute, Bethesda, Maryland 20892.

出版信息

Biometrics. 1988 Sep;44(3):869-73.

PMID:3203134
Abstract

Gart and Nam (1984, Biometrics 40, 887-894) consider the analysis of an ABO-like model based on the Hardy-Weinberg law in the commonly occurring case of human leukocyte antigen (HLA) data where there are no double blanks, that is, no recessive homozygotes. They derive a score test, based on the truncated likelihood, of the hypothesis that the true recessive gene (or allele) frequency is zero. Yasuda (1968, Biometrics 24, 915-935) considers a similar codominant system wherein the true recessive gene frequency is assumed zero, but the Hardy-Weinberg law does not hold. In particular, he considers the possibility of a nonzero inbreeding coefficient. We show that the two models are equivalent; each likelihood can be shown to be a reparameterization of the other. Furthermore, the score test of the zero gene frequency in Gart and Nam is identical to the score test for a zero inbreeding coefficient given by Yasuda. The results are applied to an example wherein it appears that the Hardy-Weinberg model is appropriate. Thus, it is not possible in this population to identify homozygous individuals without error from phenotypic data alone.

摘要

加特和南姆(1984年,《生物统计学》第40卷,887 - 894页)考虑了在人类白细胞抗原(HLA)数据常见情况下基于哈迪 - 温伯格定律的类似ABO血型模型的分析,即不存在双空白,也就是不存在隐性纯合子的情况。他们基于截尾似然性推导了一个关于真实隐性基因(或等位基因)频率为零这一假设的得分检验。安田(1968年,《生物统计学》第24卷,915 - 935页)考虑了一个类似的共显性系统,其中假设真实隐性基因频率为零,但哈迪 - 温伯格定律不成立。特别地,他考虑了非零近亲繁殖系数的可能性。我们表明这两个模型是等价的;每个似然性都可以被证明是另一个的重新参数化。此外,加特和南姆中关于零基因频率的得分检验与安田给出的关于零近亲繁殖系数的得分检验是相同的。这些结果应用于一个例子,其中似乎哈迪 - 温伯格模型是合适的。因此,在这个群体中仅从表型数据不可能无误地识别纯合个体。

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