Characterization of Killer cell immunoglobulin-like receptor (KIR) genotypes and haplotypes in Chinese Han population
Characterization of Killer cell immunoglobulin-like receptor (KIR) genotypes and haplotypes in Chinese Han population
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中国汉族人群杀伤细胞免疫球蛋白样受体（KIR）基因型和单倍型的特征
DOI：
10.1111/tan.12211
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发表时间：
2013-11-01
期刊：
影响因子：
--
通讯作者：
He, J.
中科院分区：
文献类型：
--
作者：
Bao, X.;Wang, M.;He, J.
我们对1271名中国汉族个体进行了杀伤细胞免疫球蛋白样受体（KIR）基因分型，其中包括102个家庭和965名无亲缘关系的个体。对这些家庭（一个孩子及父母双方）进行了单倍型分析。共鉴定出41种不同的基因型。在家庭组中发现的KIR基因型频率通过无亲缘关系组得到了证实。家庭研究显示出一种A单倍型和至少15种独特的B单倍型的分离。B组中最常见的单倍型是B1、B2和B3，其频率分别为10.05%、6.62%和4.90%。基于KIR基因的组合，已鉴定出6种着丝粒和7种端粒基因基序。基序cB02是最常见的B单倍型特异性着丝粒区段，而tB01是最常见的B单倍型特异性端粒区段。不同人群中KIR单倍型的独特分布可能反映了不同种族的定向选择和平衡选择的历史。A组和B1/B2/B3单倍型的基因组合是最常见的基因型，分别命名为Bx1、Bx2和Bx3，在家庭组中的频率分别为13.72%、7.35%和4.41%，在无亲缘关系组中的频率分别为15.86%、10.15%和5.80%。总体而言，这项研究显示了中国汉族人群中KIR单倍型和基因型的多样性，并为该人群制定了区分KIR单倍型/基因型的标准。KIR基因分型和单倍型分析对于选择具有有利KIR基因含量的最佳供体移植物用于移植应该是有用的。
We performed Killer cell immunoglobulin-like receptor (KIR) genotyping on 1271 individuals of Chinese Han origin including 102 families and 965 unrelated individuals. The families (with one child and both parents) were subjected for haplotype analysis. Forty-one different genotypes were identified. The frequencies of the KIR genotypes found in the family panel were confirmed by those found in the unrelated panel. The family study showed segregation of one A haplotype and at least 15 unique B haplotypes. The most commonly observed haplotypes in group B were B1, B2, and B3, present at a frequency of 10.05%, 6.62%, and 4.90%, respectively. On the basis of the combination of KIR genes, six centromeric and seven telomeric gene motifs have been identified. Motif cB02 was the most frequent haplotype B specific centromeric segment while tB01 was the most frequent haplotype B specific telomeric segment. The distinct distribution of KIR haplotypes in each population may reflect the history of directional and balancing selection of different races. The gene combinations of group A and B1/B2/B3 haplotype were the most frequent genotypes named as Bx1, Bx2, and Bx3, present at a frequency of 13.72%, 7.35%, and 4.41% in the family panel, and at a frequency of 15.86%, 10.15%, and 5.80% in the unrelated panel, respectively. Overall, this study showed the diversity of KIR haplotypes and genotypes in Chinese Han population and developed a criterion for distinguish KIR haplotypes/genotypes for the population. KIR genotyping and haplotype analysis should be useful for selection of the most optimum donor grafts with favorable KIR gene content for transplants.