中文摘要：

目的分析汉族和蒙古族人群中KIR3DL1功能性等位基因的分布特征,探讨不同民族和地理环境因素与KIR3DL1等位基因分布的关联性。方法采用PCR-SSP法检测云南地区360例汉族和108名蒙古族、内蒙古地区48名蒙古族的KIR3DL1功能性等位基因,比较KIR3DL1功能基因亚型在不同民族和不同地区的分布特征。结果在云南的蒙古族和汉族之间,低表达等位基因KIR3DL1＊007的携带率分别为45.54%和30.56%,KIR3DS1＊013分别为3.70%和23.89%,分布有显著差异;在云南和内蒙古的蒙古族之间,无表达等位基因KIR3DL1＊004的携带率分别为7.14%和37.50%,低表达等位基因KIR3DL1＊005分别为2.86%和16.67%,功能等位基因分布有显著差异;高表达等位基因型KIR3DL1＊001和＊016在云南和内蒙古民族人群之间无明显差异。结论 KIR3DL1基因功能亚型的分布在不同民族之间、以及同一民族不同地区之间的分布呈现明显差异,KIR3DL1功能等位基因多态性分布特征与民族源流相关,并可能与环境选择因素相关。

英文摘要：

Objective To detect the polymorphism of KIR3DL1 functional alleles in Han and Mongolian ethnic people in different areas of China,and to investigate the association between distribution of the KIR3DL1 alleles and ethnic origin and environmental selection factors.Methods The genotypes of KIR3DL1 allele in 360 Chinese Han and 108 Mongolians from Yunnan,and 48 Mongolians from Inner Mongolia were examined by the polymerase chain reaction-based sequence specific primer（PCR-SSP）.The distribution of KIR3DL1 alleles were analyzed in different ethnic groups from Yunnan and Inner Mongolia areas.Results In Han Chinese and Mongolian individuals from Yunnan,the frequencies of low-expression KIR3DL1＊007 were 30.55% and 45.54%,the frequencies of activating KIR3DS1＊013 were 23.89% and 3.70%,respectively,The difference were statistically significant.In Mongolians from Yunnan and Inner Mongolia,the frequencies of nullexpression KIR3DL1＊004 were 7.14% and 56.25%,the frequencies of low-expression KIR3DL1＊005 were 2.86% and25.00%,with significant difference,while there were no significant difference on frequencies of high-expression KIR3DL1＊001 and ＊ 016 between Yunnan and Inner Mongolia individuals.Conclusion Our findings suggest that the distribution of KIR3DL1 functional alleles were significan between different ethnic groups and between areas.The highly polymorphic of KIR3DL1 gene relates to the origin and evolution of the ethnic groups.Balancing selection might maintain the diversity of KIR3DL1 alleles.