中国健康人群CFTR基因多态性研究

CFTR polymorphisms of healthy individuals in Chinese

目的研究长春为主的东北地区健康中国人群中囊性纤维化跨膜传导调节因子(CFTR)的基因多态性。方法基因组DNA从全血中提取出来。CFTR基因的DNA片段采用PCR的方法进行扩增。多聚T(poly-T)和TG重复序列直接用自动测序仪(ABI300)进行测定。M470V由HphI限制性内切酶进行检测。结果在健康人群中T7(0.938)是最常见的等位基因。T5仅在7个健康个体中出现。在健康人群中最多见的TG重复序列是TG11(0.5)和TG12(0.453)。有三种主要的单倍型T7-TG11-V470,T7-TG12-M470,T7-TG12-V470。T7-TG11-V470在健康人群(0.439)中是最常见的。结论长春为主的东北地区健康人群的CFTR基因型均造成CFTR功能的下降。长春和日本CFTR基因多态性背景存在一定相似性。

Objective To investigate polymorphic backgrounds of the cystic fibrosismbrane conductance regulator （CFTR） gene of healthy populations in Chinese. Methods C, enomic DNA was extracted from whole blood. DNA fragments of gene were amplified by polymerase chain reaction （PCR）. Poly-T and TG repeats were directly sequenced by auto sequencer （ABI 310）.M470V was detected by Hph Ⅰ restriction enzyme. Results The T7 allele was the most common baplotype in Cbangchun （0.938） populations. The T5 allele was present in only 7 Changchun subjects. The TG11 and TG12 alleles were dominant baplotypos in Cbangchun （TG11 0.5, TG12 0.453 ）. The frequency of the V470 allele was 0.633 in Changchun. There were three major baplotypes： T7-TG11-V470,T7-TG12-M470 and T7-TG12-V470. The T7-TG11-V470 was the most common baplotype in Cbangchun （0. 439）. Conclusion In Changchun and Japanese populations, the polymorphic backgrounds of CFTR gene are a little similar.The majority of the two populations have genotypes that cause lower CFTR function.