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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 investigate the association between single-strand conformation polymorphism of exon 4 and type 2 diabetes mellitus (T2DM) in Han population of Zunyi. Methods Polymorphisms of hsl exon 4 in 295 cases of Han ethnicity in Zunyi were detected by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), including 147 cases of T2DM (T2DM group), normal control ( Con) group of 148 people. Results hsl exon 4 detected EE, EF, EH genotypes. The frequencies of alleles and genotypes were statistically different between T2DM and Con groups (P <0.05). Genotype EE, EF and T2DM were positively correlated. After sequencing, -4A / G and -1A / T base variations were detected in alleles E and F, respectively. Conclusion There is a polymorphism distribution of hsl exon 4 in Zunyi population. It is speculated that the -4A / G and -1A / T polymorphisms are related to T2DM in this population.