趋化因子受体CX3CR1基因T280M多态性在云南彝族人群中的分布

目的 研究云南省晋宁县彝族人群CX3CR1基因T280M多态性分布的情况, 为探讨CX3CR1基因相关性疾病的发病机制奠定基础.方法 采用PCR-RFLP技术对居住在云南省晋宁县268例彝族健康个体的CX3CR1基因T280M多态性进行分析, 计算MM、MT、TT基因型频率和M、T等位基因频率, 与其他人群该位点多态性进行比较.结果 云南省晋宁县彝族CX3CR1基因的MM、MT、TT基因型频率分别为1.12%、11.94%和86.94%, M和T等位基因频率分别为7.09%和92.91%.与汉族、维吾尔族、希腊、法国、塞尔维亚、印度、意大利和高加索人群比较, 无论是基因型分布还是基因频率差异有统计学意义 (P<0.05) ;但与景颇族比较中差异无统计学意义 (P>0.05) .结论 CX3CR1基因T280M多态性分布存在民族、种族差异, 且种族间的差异大于民族间的差异.

The T280M Polymorphisms of Fractalkine Receptor CX3CR1 in a Yi Nationality Population of Yunnan Province

Objective To investigate the distribution of the CX3CR1 gene T280 M polymorphism in a Yi nationality population of Yunnan province, and lay the foundation of exploring the pathogenesis of CX3CR1 gene ralated diseases. Methods We studied 268 healthy individuals of Yi nationality in a rural area of Jinning, Yunnan province.Genotype determination of the CX3CR1 gene T280 M polymorphism was performed using Polymerase Chain Reaction-Restriction fragment Length Polymorphism ( PCR-RFLP) technique.The frequencies of MM, MT, TT genotypes and M, T alleles were calculated. We conducted some analysis by comparing with results of other populations collected from previous studies.Results In the healthy Yi nationality population of Yunnan province, CX3CR1 genotype frequencies for the MM, MT and TT genotypes were1.12%, 11.94% and 86.94%. Deriving from those, the allele frequencies for the M and T allele were 7.09%and 92.91% respectively.Significant differences in the distribution of CX3CR1 genotypes and the allele frequencies were observed between the Yunnan Yi people and other nationality populations (The han, The uighurs, Greece, France, Serbia, India, Italy and The Caucasus) (P <0.05) ; whereas there was no significant difference with the Jingpo nationality (P>0.05) .Conclusions Differences of the genotype or allele frequency of the CX3CR1 T280 M polymorphism exist in different nationalities and different races, and the national difference is more obvious than ethnic ones.