遵义地区汉族人群hsl外显子4单链构象多态性与2型糖尿病的相关性  

Correlation between single strand conformation polymorphism (SSCP) of hsl exon 4 and T2DM in Han population of Zunyi District

作　　者：路健[1] 葛斌[2] 李学英[1] 高琳[3] 张海榆[1] 

机构地区：[1]遵义医学院细胞生物学与遗传学教研室,563003 [2]遵义医学院附属医院生殖中心 [3]遵义医学院附属医院内分泌科

出　　处：《中国糖尿病杂志》2010年第9期665-667,共3页Chinese Journal of Diabetes

基　　金：贵州省科学技术基金[黔科合J字(2008)2189]

摘　　要：目的探讨遵义地区汉族人群激素敏感性脂肪酶基因(hsl)外显子4单链构象多态性与2型糖尿病(T2DM)的相关性。方法采用聚合酶链式反应-单链构象多态性(PCR-SSCP)法,检测295例遵义地区汉族人hsl外显子4多态性,其中T2DM患者147例(T2DM组),正常对照(Con)组148人。结果 hsl外显子4检出EE、EF、EH基因型。各等位基因频率及基因型频率在T2DM组与Con组间的分布有统计学差异(P<0.05)。基因型EE、EF与T2DM呈正相关。经测序,分别在等位基因E、F中检出-4A/G及-1A/T碱基变异。结论 hsl外显子4在遵义地区人群中有多态性分布,推测其-4A/G及-1A/T两个多态性位点与该人群中的T2DM有相关性。Objective To explore correlation between SSCP of hsl exon 4 and T2DM in Han population of Zunyi District. Methods The SSCP of hsl exon 4 in Zunyi Han population was examined by using ploymerase chain reaction and single strand conformation polymorphism （PCR-SSCP）. There were 147 patients with T2DM and 148 healthy subjects. Results Three genotypes of EE（x^2 = 7.0,P〈 0.05,OR=1.89）, EF（x^2 =10. 7,P〈0. O5,OR=3.88） and EH （x^2 =41. 4,P〈0.05,0R=0. 19） were detected in exon 4 of hsl. The frequencies of genotype and allele were significantly different between T2DM patients and the normal population （P〈0.05）. There was positive correlation of EE and EF with T2DM. There were variable bases in - 4bp and - lbp in the allele E and F. Conclusions There are polymorphic sites in exon 4 of hsl, and the -4A/G and -1A/T of exon 4 of hsl are correlated with the T2DM in the Han population of Zun Yi District.

关 键 词：糖尿病 2型 激素敏感性脂肪酶基因 单链构象多态性 

分 类 号：R587.1[医药卫生—内分泌]