Norman P J, Carrington C V F, Byng M, Maxwell L D, Curran M D, Stephens H A F, Chandanayingyong D, Verity D H, Hameed K, Ramdath D D, Vaughan R W
South Thames Tissue Typing, Guy's Hospital, London, UK.
Genes Immun. 2002 Apr;3(2):86-95. doi: 10.1038/sj.gene.6363836.
Natural killer (NK) and some T cells express killer cell immunoglobulin-like receptors (KIRs), which interact with HLA class I expressed by target cells and consequently regulate cytolytic activity. The number of KIR loci can vary and so a range of genetic profiles is observed. We have determined the KIR genetic profiles from one African (n = 62) and two South Asian (n = 108, n = 78) populations. Several of the KIRs are present at significantly different frequencies between the two major ethnic groups (eg KIR2DS4 gene frequency 0.82 African, 0.47 S Asian. Pc < 1 x 10(-6)) and this is due to uneven distribution of two KIR haplotype families 'A' and 'B'. All three populations described here displayed a greater degree of diversity of KIR genetic profiles than other populations investigated, which indicates further complexity of underlying haplotypes; in this respect we describe two individuals who appear homozygous for a large deletion including the previously ubiquitous 2DL4. We have also reanalysed three populations that we studied previously, for the presence of a KIR which is now known to be an indicator of the 'B' haplotype. South Asians had the highest overall frequencies of all KIR loci characteristic of 'B' haplotypes (Pc < 0.0001 to < 0.004). Furthermore, gene frequency independent deviances in the linkage disequilibrium were apparent between populations.
自然杀伤细胞（NK）和一些T细胞表达杀伤细胞免疫球蛋白样受体（KIR），这些受体与靶细胞表达的HLA I类分子相互作用，从而调节细胞溶解活性。KIR基因座的数量可能不同，因此观察到一系列基因谱。我们已经确定了来自一个非洲人群（n = 62）和两个南亚人群（n = 108，n = 78）的KIR基因谱。在这两个主要种族群体之间，几种KIR的出现频率存在显著差异（例如，KIR2DS4基因频率在非洲人为0.82，在南亚人为0.47。Pc < 1 x 10(-6)），这是由于两个KIR单倍型家族“A”和“B”分布不均所致。这里描述的所有三个人群的KIR基因谱多样性程度都高于其他被研究的人群，这表明潜在单倍型更加复杂；在这方面，我们描述了两个个体，他们似乎因一个大的缺失而纯合，该缺失包括以前普遍存在的2DL4。我们还重新分析了我们之前研究的三个人群，以确定一种现在已知是“B”单倍型指标的KIR的存在情况。南亚人具有所有“B”单倍型特征的KIR基因座的总体频率最高（Pc < 0.0001至< 0.004）。此外，人群之间在连锁不平衡方面存在明显的基因频率独立偏差。
