Klitz W, Lo S K, Neugebauer M, Baur M P, Albert E D, Thomson G
Hum Immunol. 1987 Feb;18(2):163-80. doi: 10.1016/0198-8859(87)90013-9.
Segregation distortion, the non-Mendelian segregation of gametes, has been well documented among diverse groups of organisms. These cases are characterized by extreme segregation ratios found only in males. Previous reports have suggested the existence of segregation distortion operating in the HLA system of humans, a tightly linked complex of genes which regulates the immune system. In mice, some alleles of the T/t complex, which is linked to H-2 (the HLA homologue of mice), cause extreme segregation distortion in wild mice populations. Here we report on the examination of a large body of pedigree data on non-diseased families, scored for the alleles of five HLA region loci. We searched for segregation distortion on the basis of five different models of inheritance: allelic, haplotypic, genotypic, diffuse occurrence in families, and autosomal effects on the sex ratio. There was no clear evidence for segregation distortion. In particular, the possibility of extreme levels of segregation distortion was firmly rejected in the populations examined, thus reducing the likelihood of common distortion-causing HLA associated haplotypes in our species.
分离畸变，即配子的非孟德尔式分离，在不同生物群体中已有充分记载。这些案例的特征是仅在雄性中出现极端的分离比例。先前的报告表明，在人类的HLA系统中存在分离畸变，HLA是一组紧密连锁的基因复合体，负责调节免疫系统。在小鼠中，与H-2（小鼠的HLA同源物）连锁的T/t复合体的一些等位基因，在野生小鼠群体中会导致极端的分离畸变。在此，我们报告了对大量非患病家庭的系谱数据进行的检查，这些数据针对五个HLA区域位点的等位基因进行了评分。我们基于五种不同的遗传模型搜索分离畸变：等位基因、单倍型、基因型、在家族中的广泛出现以及常染色体对性别比例的影响。没有明确的证据表明存在分离畸变。特别是，在所研究的群体中，极端水平的分离畸变的可能性被坚决排除，从而降低了我们物种中常见的导致畸变的HLA相关单倍型的可能性。
