【摘要】 目的分析江苏地区人群21-羟化酶基因(CYP21A2)拷贝数变异情况,统计CYP21A2基因大片段缺失/转换突变的携带者频率。方法收集400例体检健康者外周血标本,用多重连接依赖探针扩增技术(MLPA)进行CYP21A2基因拷贝数检测,对检测发现的大片段缺失/转换突变样本进行位点特异性PCR-酶切多态分析和基因全长测序分析。结果 400例健康人中389例携带2拷贝CYP21A2基因;11例存在拷贝数变异,其中携带3拷贝CYP21A2基因的个体共10例(2.5%),CYP21A2基因大片段缺失/转换突变携带者1例(0.25%)。对10例携带3拷贝CYP21A2基因的样本测序分析,发现5例携带p.Gln318X致病突变。结论江苏地区人群3拷贝CYP21A2基因的携带者频率较高加索人群低,携带者筛查具有一定检出率。更多还原

【Abstract】 Objective To investigate the copy number variation of CYP21A2 and the frequency of the carrier with large deletion or transition mutation of CYP21A2 gene in normal individuals from Jiangsu Province. Methods Peripheral blood samples from 400 healthy individuals were collected,and the copy number of CYP21A2 gene was determined by the multiplex ligation-dependent probe amplification( MLPA). The detected large deletions or transition mutations were further analyzed by the locus-specific PCR-restriction endonuclease analysis and Sanger sequencing. Results There was two copies of CYP21A2 gene detected in 389 out of 400 healthy individuals,and the other 11 carried the copy number variation of CYP21A2 gene,including 10 with three copies of CYP21A2 gene( 2. 5%) and 1 with the large deletion and transition mutation of CYP21A2 gene( 0. 25%). Among 10 individuals with three copies of CYP21A2 gene,5 carried the point mutation of p. Gln318X. Conclusion There was the copy number variations of CYP21A2 gene existed in Chinese people,and there was lower frequency of three copies of CYP21A2 gene in normal individuals from Jiangsu Province than in Caucasian.更多还原