基于单体型重构的传递不平衡检验

传递不平衡检验是基于家系检测疾病位点与标记位点之间连锁与连锁不平衡的经典分析方法。论文针对紧密连锁位点,提出了单体型的传递不平衡检验方法,并把此方法用于分析IgA肾病的两紧密连锁位点的基因定位数据。首先在估计核心家系的单体型频率的基础上,重构单体型的传递/未传递的交叉分类表格,然后通过检验此表格的对称性与边缘齐性进行传递不平衡检验,同时,自编Excel宏命令VBA程序,用于家系数据单体型频率估计与重构。此方法充分利用所有家系信息,并能处理缺失数据。C2093T-C2081T的单体型多态性与IgA肾病关联。此方法推广了已有单体型传递不平衡检验。

Haplotype Transmission Disequilibrium Test Based on Haplotype Reconstruction

Transmission disequilibrium test(TDT) is a classical family-based test to detect linkage and linkage disequilibrium.Haplotype transmission disequilibrium test is proposed for tightly linked loci.The method is applied to the gene mapping data for Immunoglobulin A(IgA) nephropathy.Based on haplotype frequency estimation with nuclear family data,the transmission/non-transmission cross-table in TDT is reconstructed.And then symmetry test and homogeneity test for the reconstructed contingency table are given to detect haplotype transmission disequilibrium.In addition,Excel macro VBA program is developed to estimate haplotype frequencies and reconstruct transmission/non-transmission haplotypes.The proposed method available information from all families,including families with missing value.The haplotype polymorphism of C2093T-C2081T is associate with IgA.The method generalizes the existed haplotype transmission disequilibrium test.