延边地区朝鲜族及汉族人群PGC-1基因单体型研究  

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

作　　者：吕福庆[1] 杨康鹃[1] 金艳花[1] 张子波[1] 金雄吉[1] 刘洋[1] 金元哲[2] 

机构地区：[1]延边大学基础医学院细胞生物学与医学遗传学教研室,吉林延吉133000 [2]延边大学基础医学院生理学与病理生理学教研部,吉林延吉133000

出　　处：《延边大学医学学报》2007年第1期9-14,共6页Journal of Medical Science Yanbian University

摘　　要：[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.OBJECTIVE To observe the distribution of 6 single nucleotide polymorphisms （SNPs） of peroxisome proliferator-activated receptor-y 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 polymorphismswere no association with nationality in Yanbian area.

关 键 词：基因型 多态性 单核苷酸 人种群 

分 类 号：R392.1[医药卫生—免疫学]