Clayton D
MRC Biostatistics Unit, Institute of Public Health, Cambridge, United Kingdom.
Am J Hum Genet. 1999 Oct;65(4):1170-7. doi: 10.1086/302577.
A new transmission/disequilibrium-test statistic is proposed for situations in which transmission is uncertain. Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown in a substantial number of instances. Even for single-locus markers, transmission is uncertain if one or both parents are missing. In both these situations, uncertainty may be reduced by the typing of further siblings, whose disease status may be unaffected or unknown. The proposed test is a score test based on a partial score function that omits the terms most influenced by hidden population stratification.
针对传递情况不确定的情形，提出了一种新的传递/不平衡检验统计量。当考虑多位点标记单倍型的传递时，就会出现这种情况，因为在大量实例中，单倍型相位往往是未知的。即使对于单一位点标记，如果一个或两个亲本缺失，传递也是不确定的。在这两种情况下，可以通过对更多同胞进行分型来降低不确定性，这些同胞的疾病状态可能未受影响或未知。所提出的检验是一种基于部分得分函数的得分检验，该函数省略了受隐藏群体分层影响最大的项。
