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目的 筛查上海地区汉族人群中膜联蛋白 A1(annexin A1,ANXA1)基因的单核苷酸多态性 (single nucleotide polymorphisms,SNPs) ,并通过关联分析研究其与 2型糖尿病的相关性。方法 选取2 4例 2型糖尿病患者的 DNA样本 ,采用直接测序法对 ANXA1基因的启动子区、全部外显子及其临近内含子区作 SNPs筛查 ,并在其余的 171例 2型糖尿病和 189名正常对照间作进一步的基因分型。结果ANXA1基因测序长度 6 798bp,共检出 7个 SNPs,其中启动子区 2个 (- 7974 C>T,- 70 4 0 G>T) ,内含子区 3个 (+90 5 9A>G,+92 0 4 C>T,+10 4 86 A>G) ,5′-非翻译区 1个 (- 6 6 14 A>G) ,编码区 1个(+1784 A>G)。进一步的基因分型后显示这些 SNPs的等位基因频率在 2型糖尿病和正常对照组之间差异无显著性 (P>0 .0 5 )。结论 ANXA1基因多态性与上海地区汉族人群中 2型糖尿病无显著相关性。
Objective To screen single nucleotide polymorphisms (SNPs) of annexin A1 (ANXA1) gene in Shanghai Han population and to investigate the association between ANXA1 and type 2 diabetes mellitus by correlation analysis. Methods DNA samples from 24 patients with type 2 diabetes mellitus were selected. SNPs of ANXA1 promoter region, all exons and their adjacent intron regions were screened by direct sequencing. In the remaining 171 cases of type 2 diabetes mellitus And 189 normal controls for further genotyping. Results The sequence length of ANXA1 gene was 6 798bp. Seven SNPs were detected, including 2 promoter regions (- 7974 C> T, - 70 4 0 G> T), 3 intron regions (+90 5 9A> G , + 92 0 4 C> T, + 10 4 86 A> G), 1 in the 5’-untranslated region (- 6 6 14 A> G) and 1 in the coding region (+1784 A> G). Further genotyping showed no significant difference in the allele frequencies of these SNPs between type 2 diabetes mellitus and controls (P> 0.05). Conclusion ANXA1 gene polymorphism has no significant correlation with type 2 diabetes in Han population in Shanghai.