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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 of HIV co-receptor in Chinese Han population. Methods The CCR5 coding region was amplified by PCR, and the PCR products were directly sequenced. Results In 50 specimens, a case of 894ΔC heterozygote in CCR5X coding region was found. The reverse aphincter was used to verify that sequencing results were accurate. This deletion caused a frameshift mutation that reduced CCR5C by 44 amino acids. Conclusion There is CCR5 894ΔC in Chinese Han population, which can result in changes of CCR5 receptor structure and function.