江苏地区汉族献血员杀伤细胞免疫球蛋白样受体基因多态性研究

Polymorphism of killer-cell immunoglobulin-like receptor gene family in Han blood donors in Jiangsu

目的分析江苏地区汉族献血员杀伤细胞免疫球蛋白样受体(K IR)基因多态性、基因型及单倍型,为研究K IR基因与疾病相关性提供依据。方法采用序列特异性引物聚合酶链反应(PCR-SSP)对江苏地区163名汉族献血员进行K IR基因低分辨率检测和基因型、单倍型分析。结果共检出除框架基因及假基因外的12个K IR基因,其中2DL1和2DL3存在于所有个体,3DL1和2DS4较为常见;其次为1D、2DL5、2DS1、3DS1及2DS5;2DS2、2DL2及2DS3基因频率较低;检出的17种基因型中,以AJ(2,2)和AF(1,2)型最为常见,其次为AH(5,2)和AG(1,1)型。有3种基因型(New1、New11及New19)在白人中未见报道,其中New19国内未见报道;163例个体中明确检出9种单倍型,最常见的是单倍型2,其次是单倍型1。结论江苏地区汉族人群有其独特的K IR基因频率、基因型频率和单倍型频率分布,并有可能存在新的基因型和单倍型。

Objective To investigate the genomic diversity, genotypes, and haplotypes of killer-cell immunoglobulin-like receptor （KIR） in Han population in Jiangsu. Methods DNA samples from 163 voluntary blood donors in Han population in Jiangsu were genotypod with PCR-SSP method. Results （ 1 ） Twelve KIR genes,including 1D ,2DL1-3,2DL5,2DS1-5,3DL1,3DS1 ,were observed. All the individuals contained 2DL1 and 2DL3. The most common genes were 3DL1 and 2DS4,followed by 1D,2DL5,2DS1,3DS1 ,and 2DS5. The rare ones were 2DS2,2DL2, and 2DS3. （2）There were 17 KIR genotypes in the 163 DNA samples;the most frequent types were AJ （2, 2） and AF（ 1,2）, followed by AH （5,2） and AG （1,1）. Three genotypes （Newl, Newl 1, and Newl9） have not been observed in Caucasians so far, and New l9 has not been observed in other populations in China. （3）There were 9 haplotypes in the 163 individuals; the most frequent one was type 2, followed by type 1. Conclusions There are distinctive frequencies of KIR gene contents, haplotypes, and genotypes in Chinese Han population in Jiangsu. The data demonstrate the presence of new KIR genotypes and haplotypes.