CCR5基因编码区894C缺失突变在中国人群中的发现  

Discovery and identification of 894ΔC in HIV coreceptor CCR5 coding region among Chinese original people

作　　者：刘明旭[1] 王福生[1] 洪卫国[1] 王波[1] 金磊[1] 李京湘[2] 韩华[2] 孙敏[2] 刘斌[2] 牛宇欣[2] 

机构地区：[1]解放军第302医院传染病研究所 [2]中国科学院基因组信息学研究中心

出　　处：《中国性病艾滋病防治》2002年第1期18-19,27,共3页Chinese Journal of Std & Aids Prevention and Control

摘　　要：目的 调查中国汉族人HIV协同受体CCR5编码区基因突变和SNP特点。方法PCR扩增CCR5编码区,PCR产物直接进行基因测定。结果 在50例标本中,发现一例CCR5X编码区894ΔC杂合子;采用反向经物进行验证,确定测序结果准确无误。该人缺失引起移码突变,使CCR5C端减少了44个氨基酸。结论 中国汉族人群中存在CCR5 894ΔC,该突变能导致CCR5受体结构和功能改变。Objective To investigate the gene mutation and SNP of CCR5 coding region among original Han population in China. Methods CCR5 coding region is obtained by PCR amplification, and DNA sequencing is direct carried out using PCR product as model. Results One individual of 894ΔC is found among 50 Chinese Han population. The result is testified by reverse sequencing. The mutation changes the reading frame, truncating 44 amino acids at the C end. Conclusion 894ΔC mutation in CCR5 coding region does exist in Chinese Han population, and this mutation changes the structure and function of CCR5.

关 键 词：CCR5 DNA测序 基因突变 HIV 艾滋病 

分 类 号：R512.91[医药卫生—内科学]