延边地区朝鲜族及汉族人群PGC-1基因单体型研究

目的]探讨PGC-1基因6个单核苷酸多态性(SNPs)在延边地区朝鲜族和汉族人群中的分布情况.方法]以172名延边地区朝鲜族及汉族正常人群为研究对象,6个SNPs位点(Ser 74 Leu,IVS2+52C>A,Asp 475 Asp,Gly 482 Ser,Thr528 Thr,Ler 577 Ser)均来自PGC-1基因的2个模块.采用聚合酶链反应-单链构象多态性(PCR-SSCP)给Ser 74 Leu,IVS 2+52C>A2个等位基因位点检测突变样本,对异常片段进行直接测定序列;对Asp475Asp,Gly 482 Ser,Thr 528 Thr,Ler 577 Ser4个等位基因位点行PCR扩增后直接测定序列.结果]延边地区朝鲜族及汉族人群PGC-1基因Ser 74 Leu,IVS2+52 C>A,Asp 475 Asp,Gly 482 Ser(G>A),Thr 528 Thr(G>A),Ler 577 Ser6个位点等位基因频率及单体型频率分布间差异均无统计学意义.结论]延边地区朝鲜族及汉族人群PGC-1基因6个SNPs位点等位基因频率及单体型频率分布间无明显差异.

Haplotype study of peroxisome proliferator-activated receptor-γ coactivator 1 for Korean-Chinese nationality and Han-Chinese nationality in Yanbian area

OBJECTIVE To observe the distribution of 6 single nucleotide polymorphisms(SNPs)of peroxisome proliferator-activated receptor-γ coactivator 1(PGC-1)for Korean-Chinese nationality and Han-Chinese nationality in Yanbian area.METHODS The 172 subjects were selected from Korean-Chinese nationality and Han--Chinese nationality in Yanbian area,and 6 SNPs(Ser 74 Leu,IVS 2+52 C>A,Asp 475 Asp,Gly 482 Ser,Thr 528 Thr,Ler 577 Ser)of 2 PGC-1 genes.The site of allelotype of Ser 74 Leu,IVS 2+52 C>A were determined by PCR-SSCP,and the abnormal fragment was determined by direct sequence checking.The site of allelotype of Asp 475 Asp,Gly 482 Ser,Thr 528 Thr,Ler 577 Ser were determined by direct sequence checking after PCR.RESULTS Six polymorphisms Ser 74 Leu,IVS 2+52 C>A,Asp 475 Asp,Gly 482 Ser,Thr 528 Thr,Ler 577 Ser allelic frequencies and haplotype frequencies were no significant difference between Korean-Chinese nationality and Han-Chinese nationality in Yanbian area.CONCLUSION The 6 polymorphisms were no association with nationality in Yanbian area.