van der Loo W
Vrije Universiteit Brussel, Belgium.
Genetics. 1993 Sep;135(1):171-87. doi: 10.1093/genetics/135.1.171.
Population genetic data are presented which should contribute to evaluation of the hypothesis that the extraordinary evolutionary patterns observed at the b locus of the rabbit immunoglobulin light chain constant region can be the outcome of overdominance-type selection. The analysis of allele correlations in natural populations revealed an excess of heterozygotes of about 10% at the b locus while heterozygote excess was not observed at loci determining the immunoglobulin heavy chain. Data from the published literature, where homozygote advantage was suggested, were reevaluated and found in agreement with data here presented. Gene diversity was evenly distributed among populations and showed similarities with patterns reported for histocompatibility loci. Analysis of genotypic disequilibria revealed strong digenic associations between the leading alleles of heavy and light chain constant region loci in conjunction with trigenic disequilibria corresponding to a preferential association of b locus heterozygosity with the predominant allele of the heavy chain e locus. It is argued that this may indicate compensatory or nonadditive aspects of a putative heterozygosity enhancing mechanism, implying that effects at the light chain might be more pronounced in populations fixed for the heavy chain polymorphism.
本文呈现了群体遗传学数据,这些数据应有助于评估以下假说:在兔免疫球蛋白轻链恒定区的b位点观察到的异常进化模式可能是超显性选择的结果。对自然群体中等位基因相关性的分析显示,b位点的杂合子过量约为10%,而在决定免疫球蛋白重链的位点未观察到杂合子过量。对已发表文献中提示存在纯合子优势的数据进行了重新评估,发现与本文呈现的数据一致。基因多样性在群体间均匀分布,且与组织相容性位点报道的模式相似。对基因型不平衡的分析揭示了重链和轻链恒定区位点的主要等位基因之间存在强烈的双基因关联,同时存在三基因不平衡,这对应于b位点杂合性与重链e位点主要等位基因的优先关联。有人认为,这可能表明一种假定的杂合性增强机制的补偿或非加性方面,这意味着在为重链多态性固定的群体中,轻链的效应可能更明显。