Lazzeroni L C, Lange K
Department Genetics, Stanford University, Calif. 94305-5405, USA.
Hum Hered. 1998 Mar-Apr;48(2):67-81. doi: 10.1159/000022784.
The transmission/disequilibrium test (TDT) of Terwilliger and Ott [Hum Hered 1992;42:337-346] and Spielman et al. [Am J Hum Genet 1993;52:506-516] is widely used to detect linkage and/or association between a genetically influenced disease and the alleles of a codominant marker locus. The TDT was specifically designed to avoid the spurious population associations produced by ethnic stratification of a sample of affected people. In this paper, we describe permutation extensions of the TDT that share this advantage. Our conditional inference framework permits extensions to multiple alleles, multiple loci, unaffected siblings, and genotypic rather than allelic associations. In the case of multiple loci, the conditional perspective provides a straightforward correction for multiple tests that can be substantially more powerful than the standard Bonferroni correction.
特尔维利格和奥特[《人类遗传学》1992年；42:337 - 346]以及斯皮尔曼等人[《美国人类遗传学杂志》1993年；52:506 - 516]提出的传递/不平衡检验（TDT）被广泛用于检测受遗传影响的疾病与共显性标记位点的等位基因之间的连锁和/或关联。TDT经过专门设计，旨在避免因患病个体样本的种族分层而产生的虚假群体关联。在本文中，我们描述了具有这一优势的TDT的排列扩展。我们的条件推断框架允许扩展到多个等位基因、多个位点、未患病的同胞以及基因型关联而非等位基因关联。在多个位点的情况下，条件视角为多重检验提供了一种直接的校正方法，其效力可能远高于标准的邦费罗尼校正。
