Zhou J-Y, Hu Y-Q, Fung W K
Department of Statistics and Actuarial Science, The University of Hong Kong, Hong Kong, China.
Heredity (Edinb). 2007 Feb;98(2):85-91. doi: 10.1038/sj.hdy.6800906. Epub 2006 Oct 11.
Using data from families in which marker genotypes are known for the father, the mother and the affected offspring, a simple statistic for testing for imprinting effects is developed. The statistic considers whether the expected number of families in which the father carries more copies of a particular marker allele than the mother is equal to the expected number of families in which the mother carries more copies of the allele than the father. The proposed parent-of-origin effects test statistic (POET) is shown to be normally distributed and can be employed to test for imprinting in situations where the marker locus need not be a disease susceptibility locus and where the female and male recombination fractions are sex-specific. A simulation study is conducted to characterize the power of the POET and other properties, and its results show that it is appropriate to employ the POET.
利用父亲、母亲和患病后代标记基因型已知的家庭数据，开发了一种用于检测印记效应的简单统计量。该统计量考虑了父亲携带特定标记等位基因拷贝数多于母亲的家庭预期数量是否等于母亲携带该等位基因拷贝数多于父亲的家庭预期数量。所提出的亲本来源效应检验统计量（POET）呈正态分布，可用于在标记位点不必是疾病易感位点且雌性和雄性重组率具有性别特异性的情况下检测印记。进行了一项模拟研究以表征POET的功效和其他特性，其结果表明使用POET是合适的。
