内蒙古蒙古族人群杀伤细胞免疫球蛋白样受体基因簇多态性研究

Genetic polymorphism of the killer cell immunoglobulin-like receptor genes in the Inner Mongolian population

目的研究中国蒙古族人群杀伤细胞免疫球蛋白样受体（killer cell immunoglobulin-like receptors，KIR）基因的携带频率、KIR基因型及其遗传规律。方法采集90名内蒙古农牧区蒙古族个体的血样，应用序列特异性引物聚合酶链反应（polymerase chain reaction-sequence specific primer，PCR—SSP）方法分别扩增K／R基因簇16个基因，依据实验结果计算各基因的携带频率并查询样本的基因型，和已报道的24个其他人群的相关数据进行主成分分析、计算Nei氏遗传距离并绘制遗传树。结果（1）蒙古族人群K豫2DL2、2DS2携带率高于蒙古利亚人，低于高加索人。（2）蒙古族K／R基因单倍型AA为37．78％，高于高加索人，低于蒙古利亚人。（3）系统进化树显示蒙古利亚人和高加索人分别聚类，蒙古族人群则介于两者之间。结论蒙古族其成因似与受到高加索人和蒙古利亚人的双重影响有关，表现为介于高加索人和蒙古利亚人之间的中间形式。

Objective To investigate the killer cell immunoglobulin-like receptor （KIR） gene frequencies and genotypes distributions in the Inner Mongolian population. Methods Ninety genomic DNA samples were extracted from blood samples of randomly chosen Mongolian individuals. Gene-specific PCR amplification was used to identify genes present or absent for 16 KIR loci. KIR genotype distributions were obtained and compared to that of 24 populations published in literatures using principal component analysis by SASS. 0 software. Genetic tree was constructed by the calculate Nei＇s genetic distance. Results （1） The frequency of KIR 2DL2,2DS2 in Mongolian individual is higher than that in north Mongoloid and less than that in Caucasian. （2） Haplotype AA was identified in 37.78% of individuals, which is higher than that in north Mongoloid and lower than that in Caucasian. （3） Mongolian was considered between north Mongoloid and Caucasian by principal component and genetic tree analysis. Conclusion Mongolian might be affected by the north Mongoloid and Caucasian, and showed intermediate between the two populations.