中国人CCR5732基因突变的检测及其对HIV遗传易感性的初步评估  

PRELIMINARY STUDY OF CHEMOKINE RECEPTOR 5 GENE 32-BASEPAIR DELETION MUTATION AMONG THE INDIGENOUS INDIVIDUALS IN CHINA

作　　者：王福生[1] 雷周云[1] 金磊[1] 徐东平[1] 施红[1] 韩凤连[1] 李跃旗[1] 蒋建东 汪悦 GeogerBekesi 

机构地区：[1]解放军第302医院,北京100039 [2]美国纽约大学西奈山医学院肿瘤中心

出　　处：《解放军医学杂志》1999年第5期332-335,共4页Medical Journal of Chinese People's Liberation Army

基　　金：国家自然科学基金

摘　　要：为了解ＣＣＲ５Δ３２ 基因突变在中国本土人群基因组中的分布，初步评估我国人群对ＨＩＶ－１ 感染的遗传易感性，用ＰＣＲ扩增、Ｓｏｕｔｈｅｒｎ 杂交和ＤＮＡ 测序等分子生物学方法对９１５ 名中国人来源的基因组ＤＮＡ中ＣＣＲ５Δ３２ 基因突变进行了检测。结果发现，所有被检测的个体绝大多数均表现为ＣＣＲ５ ｗ ｔ／ｗ ｔ纯合子等位基因型，仅检测到两例个体为突变的杂合子ＣＣＲ５ｗ ｔ／Δ３２ 基因型，而未见到有突变的ＣＣＲ５Δ３２／Δ３２ 纯合子的个体。上述初步结果提示：在我国人群中，ＣＣＲ５Δ３２ 基因突变率很低（约为０．２％ ），所以我国绝大多数人群对ＮＳＩ嗜巨噬细胞的ＨＩＶ－１The chemokine receptor 32 basepair deletion mutation (CCR5 Δ 32) is found to be related to the protection against HIV 1 infection and delay of disease progression, so this study is to investigate the mutation frequency of CCR5 Δ 32 gene and evaluate the genetic susceptibility to HIV 1 infection among the natives of China's Mainland. We are currently conducting a population based investigation in China. The genomic DNA preparations were purified from the fresh peripheral blood mononuclear cells (PBMC) of 915 individuals who were healthy volunteer blood donors or patients with liver diseases or other disorders. Amplification of 915 genomic DNA samples was performed by PCR, using the CCR5 specific primer pair flanking the 32 basepair deletion of CCR5 gene. Southern blot and DNA sequencing analyses were performed based on the PCR products. The results showed that 913 of the 915 native Chinese have the CCR5 wt/wt genotype with homozygote alleles and only two individuals show the CCR5 Δ 32/wt heterozygote mutations, and non CCR5 Δ 32/ Δ 32 homozygote genotype was found in the native Chinese who were so far investigated. In conclusion: native Chinese individuals have a significantly lower frequency of CCR5 Δ 32 mutation (0.2%) compared with the findings among the caucasian individuals described in America, and the most of the native Chinese might have a high susceptibility to the infection of NSI HIV 1 strain.

关 键 词：CCR5基因突变 HIV-1感染 遗传易感性 

分 类 号：R575.1[医药卫生—消化系统]