抵抗素基因第三内含子单核苷酸多态性与2型糖尿病

A study on association between the single neucleotidepolymorphism of resistin gene with type 2 diabetes

目的 检测抵抗素基因第三内含子和第四外显子是否存在单核苷酸多态性 ,探讨其与 2型糖尿病 (T2DM)的相关性。方法 选取安徽合肥地区汉族T2DM患者 2 6 3例 ,正常对照 86例 ,采用聚合酶链反应 单链构象多态性 (PCR SS CP)方法初筛基因后 ,进行DNA直接测序。结果 仅在第三内含子发现 +877位G/C的单核苷酸多态性 (SNP) ,在 349例受试者中共检出 4 1例 ,达到Hardy Weinberg遗传平衡 ,具有群体代表性。对照组C等位基因频率为 5 8% ,T2DM组为 6 5 %。野生型 (GG)基因型频率对照组为 88 4 % ,T2DM组为 87 8% ;杂合子 (GC)基因型频率在对照组为 9 3% ,T2DM组为 11 4 % ;纯合子 (CC)基因型频率在对照组为1 16 % ,T2DM组为 0 76 % ;组间比较差异均无显著性 (P >0 0 5 )。结论 在安徽汉人中 ,抵抗素基因第三内含子存在单核苷酸多态性 ,为 +877位的G/C。第三内含子的多态性具有群体代表性。T2DM与正常糖耐量组相比 ,等位基因频率和基因型频率两组间无差异。

Objective To explore whether the polymorphism of single nucleotide polymorphisms(SNPs) of resistin third intron and fourth exon is associated with the pathogenesis of type 2 diabetes.Methods SNPs of resistin third intron and fourth exon was detected by resistin gene third intron and fourth exon screening for mutations in the entire coding region using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP).The subjects included 349.Chinese Hans in Anhui,China consisting of two groups: 263 cases of type 2 diabetes and 86 cases of control . Results The SNP+877 G/C was detected in the intron 3;The SNP was conformed to expectation of the Hardy-Weinberg rule. In the normal contral, C-Alleles frequency was 5.8%. In the diabetic patients, it was 6.5%. The frequencies of GG were 88.4%and 87.8% respectively; the frequencies of GC were 9.3% and 11.4% respectively; the frequencies of CC were 1.16% and 0.76% respectively. There was no significant difference between the groups. Conclusion SNP in resistin gene intron 3 is dected in Chinese Han population of Anhui region using PCR-SSCP.It is +877G/C. The SNP is conformed to expectation of the Hardy-Weinberg rule. The frequency of SNP in resistin gene in diabetic patients do not differ significantly from normal control subjects.