Manichaikul Ani, Broman Karl W
Department of Biomedical Engineering, Univeristy of Virginia, Charlottesville, Virginia 22908, USA.
Genetics. 2009 Jul;182(3):863-74. doi: 10.1534/genetics.108.098913. Epub 2009 May 4.
Selective genotyping is an efficient strategy for mapping quantitative trait loci. For binary traits, where there are only two distinct phenotypic values (e.g., affected/unaffected or present/absent), one may consider selective genotyping of affected individuals, while genotyping none or only some of the unaffected. If selective genotyping of this sort is employed, the usual method for binary trait mapping, which considers phenotypes conditional on genotypes, cannot be used. We present an alternative approach, instead considering genotypes conditional on phenotypes, and compare this to the more standard method of analysis, both analytically and by example. For studies of rare binary phenotypes, we recommend performing an initial genome scan with all affected individuals and an equal number of unaffected, followed by genotyping the full cross in genomic regions of interest to confirm results from the initial screen.
选择性基因分型是定位数量性状基因座的一种有效策略。对于二元性状，即只有两种不同表型值的情况（例如，患病/未患病或存在/不存在），可以考虑对患病个体进行选择性基因分型，而对未患病个体不进行基因分型或仅对其中一些进行基因分型。如果采用这种选择性基因分型方法，就不能使用二元性状定位的常用方法，即考虑基于基因型的表型。我们提出了一种替代方法，改为考虑基于表型的基因型，并通过分析和实例将其与更标准的分析方法进行比较。对于罕见二元表型的研究，我们建议先用所有患病个体和相同数量的未患病个体进行初步全基因组扫描，然后对感兴趣的基因组区域中的全部杂交个体进行基因分型，以确认初步筛选的结果。
