中国健康人群CFTR基因多态性研究-长春和南京两个地区人群的比较

目的研究和比较了长春和南京两个不同地区健康人群中囊性纤维化跨膜调节因子（VFTR）基因的多态性，并进一步探讨了中国健康人群中CFTR的功能特点以及对于CFTR相关疾病的易感性。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。Poly-T和TG重复序列直接用自动测序仪（ABI300）进行测定。M470V由HphI限制性内切酶检测。结果等位基因17的分布频率在长春（0．938）和南京（0．927）人群中是最高的。T5仅在7个长春人和3个南京人中出现。等位基因TG11和TG12，在长春（TG110．5，TG120．453）和南京（TG110．345，TG120．609）人群中最多见。等位基因V470的分布频率，长春人群（0．633）高于南京（0．500）（P〈0．05）。在研究的两组人群中有三种主要的单倍型T7-TG11-V470，T7-TG12-M470和T7-TG12-V470，其中T7-TG11-V470在长春（0．439）人群中是最常见的，而T7-TG12-M470在南京（0．5）人群中是最常见。结论长春和南京分别属于我国南北两个不同地区，他们的CFTR基因多态性背景存在着一定的差异。这两个人群的CFFR基因型均可造成CFFR功能的下降。

CFTR polymorphisms of healthy individuals in Chinese- the comparison between populations in Changchun and Nanjing regions

Objective Investigated and compared polymorphic backgrounds of the cystic fibrosis transmembrane conductance regulator （CFTR） gene of healthy populations in Changchun and Nanjing regions. The characteristics of CFTR protein in Chinese normal people and their affectivity for CF relative diseases were studied further. Methods Genomic DNA was extracted from whole blood. DNA fragments of CFTR 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 haplotype in Changchan （0.938） and Nanjing （0.927） populations.The T5 allele was present in only 7 Changchun subjects and 3 Nanjing subjects. The TG11 and TG12 alleles were dominant haplotypes in Changchtm （TG11 0.5,TG12 0.453） and Nanjing （TG11 0.345, TG12 0. 609 ）. The frequency of the V470 allele was 0.633 in Changchun wtfich was higher than Nanjing（0. 500 ）（ P 〈 0.05）. There were three major haplotypes： T7-TG11-V470, T7-TG12-M470 and T7-TG12-V470. The T7-TG11-V470 was the most common haplotype in Changchun （0.439） and the T7-TG12-M470 was the most common haplotype in Nanjing （0.5）. Conclusion Though Changchtm and Nanjing belongs to the same country, their polymorphic backgrounds of CFTR gene are so different. The majority of the two populations have genotypes that cause lower CFFR fimction.