中国江苏地区汉族人群杀伤细胞免疫球蛋白样受体基因的多态性

Polymorphism of Human Killer Cell Immunoglobulin-like Receptor Gene in Chinese Jiangsu Han Population

本研究探讨杀伤细胞免疫球蛋白样受体(killer cell immunoglobulin-like receptor,KIR)在江苏汉族人群中的分布规律。用PCR-SSP方法对江苏地区269名汉族非亲缘健康人群行KIR基因分型。结果表明:在江苏人群中检出了目前已知的所有KIR基因,共发现江苏汉族人群KIR基因型34种;15种基因型在浙江和香港人群中亦有报道(AA1、BX2、BX3、BX4、BX5、BX6、BX8、BX9、BX11、BX13、BX33、BX68、BX69、BX70、BX75);19种基因型未见于浙江和香港人群(BX10、BX12、BX17、BX23、BX26、BX27、BX28、BX31、BX35、BX42、BX47、BX57、BX72、BX74、BX79、BX154、BX188、BX231、BX370)。在江苏汉族人群中发现仅在希腊人群中罕见的基因型BX42和仅在瑞典人群罕见的基因型BX231,及仅在马其顿人群中罕见的基因型BX370。结论:在江苏汉族人群中检出了目前已知的所有的16个KIR基因,总计发现了KIR基因型34种,其中BX42、BX231和BX370是罕见的KIR基因型。

This study was purposed to investigate the distribution of killer cell immunoglobulin-like receptor（KIR） in Jiangsu Han population of China. KIR genomic typing were analyzed by PCR-SSP typing methods in 269 randomly unrelated healthy individuals. The results showed that all 16 known KIR genes were found in Jiangsu Han population, the total KIR genes found in Jiangsu Han population were 34 genes. Out of 34 KIR found genotypes, 15 genotypes （AA1, BX2, BX3, BX4, BX5, BX6, BX8, BX9, BXll, BX13, BX33, BX68, BX69, BXT0, BX75） had also been identified in Zhejiang and Hong Kong populations, otherwise, 19 genotypes （BX10, BX12, BX17, BX23, BX26, BX27, BX28, BX31, BX35, BX42, BX47, BX57, BX72, BX74, BX79, BX154, BX188, BX231,BX370） had never been observed in Zhejiang and Hong Kong populations. The rare allele BX42 （ detected only in Greece population ） and BX231 （detected only in Sweden population ）and BX370 （detected only in Macedonia population ）were identified in Jiangsu Han population. In conclusion, all 16 known KIR genes were detected in Jiangsu Hart population, the total 34 KIR genotypes are found in Jiangsu province, among them the BX42,BX231 and BX370 are rare KIR genotypes.