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目的 为了评估中国汉族人群对HIV感染的遗传易感性 ,我们检测和分析了相应人群的CCR5 △ 32、CCR2 6 4I和SDF1 3’A等位基因的突变频率和多态性。方法 被研究的人群包括 12 5 4例中国普通汉族人 (918例男性、336例女性 ) ,年龄范围在 15 - 80岁之间 ,他们中没有HIV感染者。应用PCR和PCR/RFLP等分子生物学方法检测了CCR5 △ 32、CCR2 6 4I和SDF1 3’A等位基因型 ,用直接DNA测序法进一步证实其准确性。结果 我们发现在汉族人的CCR5基因编码中的确存在△ 32碱基缺失突变 (频率为 0 0 0 119,n =12 5 4) ,并可能经过孟德尔方式遗传 ;而CCR2 6 4I和SDF1 3’A等位基因的突变频率分别是 0 2 0 0 2 3(n =12 5 1)和 0 2 873(n =893)。可见汉族人群的CCR2 6 4I和SDF1 3’A突变频率高于美国白人 ,并且在基因多态性组成上与美国白人不同。统计学分析表明中国汉族人群中上述三个等位基因型的分布符合Hardy Weinberg平衡。结论 上述结果提示中国汉族人群中CCR5 △ 32遗传突变可能不是抗HIV感染的主要因素 ,因此汉族人群对性传播的R 5病毒株可能有较大的遗传易感性。中国汉族人群具有较高的CCR2 6 4I和SDF1 3’A等位基因突变频率及其在抗HIV感染中的意义尚待阐明
Objectives To assess the genetic predisposition to HIV infection in Chinese Han population, we tested and analyzed the frequency and polymorphism of the mutations of CCR5 △ 32, CCR2 6 4I and SDF1 3’A alleles in the corresponding population. Methods The population studied included 1254 Chinese Han Chinese (918 males and 336 females) aged 15-80 years with no HIV-infected individuals. CCR5 △ 32, CCR2 6 4I and SDF1 3’A alleles were detected by PCR and PCR / RFLP. The accuracy of direct DNA sequencing was confirmed by direct DNA sequencing. As a result, we found that there was indeed a △ 32 base deletion mutation (frequency: 0 0 0 119, n = 1254) in the CCR5 gene of Han people and was probably inherited by Mendelian method. However, CCR2 6 4I and SDF1 3 ’ The mutation frequencies of A allele were 0 2 0 0 2 3 (n = 1251) and 0 2 873 (n = 893), respectively. It can be seen that the frequency of mutations of CCR2 6 4I and SDF1 3’A in Han population is higher than that of white Americans and is different from that of white Americans in terms of genetic polymorphism. Statistical analysis showed that the distribution of the above three alleles in Chinese Han population was in accordance with Hardy Weinberg equilibrium. Conclusions The above results suggest that the genetic mutation of CCR5 △ 32 in Chinese Han population may not be the main factor of anti-HIV infection. Therefore, Han population may have greater genetic susceptibility to sexually transmitted R 5 strains. Chinese Han population has higher frequency of CCR2 6 4I and SDF1 3’A allelic mutation and its significance in anti-HIV infection remains to be elucidated