中国江苏地区健康人群CFTR基因M470V多态性分析132例

Polymorpholisms of M470V genotypes of the cystic fibrosis transmembrane conductance regulator gene in 132 healthy people in Jiangsu Province ofChina

目的:研究中国人CFTR基因外显子10 M470V等位基因背景并与亚洲其他各国及高加索人种对比.方法:应用PCR技术对无亲缘关系的132位中国江苏地区健康人外周血样品进行CFTR外显子10片段扩增及HphⅠ限制性内切酶酶切方法分析M470V基因型及等位基因型.结果:中国江苏地区健康人CFTR基因外显子10 M470V等位基因与亚洲其他国家及高加索人相似,V470等位基因频率(56.06%)高于M470等位基因频率(43.94%),MV基因型频率最高为45.45%,其次为VV基因型33.33%,MM基因型21.21%.结论:通过此次筛查,首次获得了中国江苏地区CFTR Exon 10 M470V等位基因分型数据,为中国CFTR基因及其相关疾病的研究提供了重要的遗传学资料.

AIM： To investigate the polymorphic backgrounds of the cystic fibrosis trans-membrane conductance regulator gene （CFTR） in Chinese people and the correlation between these polymorphisms and those in Caucasians and other Asian populations. METHODS： Polymerase chain reaction was used to amplify Exon 10 of the CFTR gene. Hph I was used to detect the M470V polymorphism. RESULTS： The M/V polymorphism at position 470 was similar to that in Caucasians and other Asian populations. The V allele was slightly more frequent than the M allele （50.00% vs 43.94%）. The frequency of genotypes MV, VV and MM was 45.5 %, 33.3 % and 21.21%, respectively. CONCLUSION： The data on the M470V poly-morphism in exon 10, provide genotype infor-mation for the CFTR gene.