HIV-1感染相关基因突变频率及多态性研究

Study on polymorphism of chemokine receptor alleles influencing genetic susceptibility to HIV-1 infectionin

目的 研究山东省济南市人群中与人类免疫缺陷病毒(HIV) - 1感染相关的CCR2 - 6 4I和SDF1 3′A等位基因的突变频率和多态性特点。方法 以2 34例济南市普通人群为研究对象,来自商河和章丘2个县,其中无1例是HIV感染者,从上述人群外周血的外周血单干核细胞(PBMC)中抽提基因组DNA ,然后应用PCR/限制性片断长度多态性(RFLP)检测去化因子受体(CCR) 2 6 4I和基质细胞衍生因子(SDF) 1 -3多态性。结果 济南市人群中存在CCR2 -6 4I和SDF1 3′A等位基因突变,2种突变频率分别为2 0 . 2 5 %和2 1 .0 0 % ,两等位基因型的分布均符合Hardy- Weinberg平衡。结论 济南市人群CCR2 6. 4I和SDF1- 3′A等位基因的突变频率较高,人群对HIV- 1感染的遗传易感性相对较低。

Objective Mutant frequency and polymorphism of HIV-1 res istance CCR-61I and SDF1-3′ A alleles were investigated in the population fro m Jinan Shandong province.Methods The study population included 234 subjects from J inan city.They came from Shanghe and Zhangqiu county;and none was HIV-1 positiv e .The genotypes of the two mutations were respectively detected by PCR/RFLP(restr iction fragment length polymorphism)assay with the digestion of restriction endo nuclease Bsa BI and Msp I for CCR2-64I and SDF1-3′ A mutation.Results The frequency of the mutant alleles were:20.25% for CCR2-64I and 21.00% for SDF1-3′ in Jinan city,Sha ndong province.Conclusion There were high frequencies of CCR2-64I and SDF1-3′ A alleles in Jinan population.The genetic susceptibi lity to HIV-1 infection and AIDS disease progression was low in Jinan city.