摘要
目的 探讨中国南方人群 2型糖尿病 (DM)的发生与磺脲类药物受体 1(SUR1)基因多态性的关系。方法 抽提正常人 51名及 2型DM患者 10 5例外周血白细胞基因组DNA ,PCR扩增SUR1基因4个多态性位点的区域 ,用限制性酶切片段长度多态性分析其基因型 ,并用测序证实不同酶切图形基因型的准确性。结果 SUR1基因 16号外显子 -3t→c的多态性在 2型DM和正常人群之间差异无显著性。研究人群未发现SUR1基因 18号外显子 (ACC→ACT ,T761T)和 3 1号外显子 (R12 73R ,AGA→AGG)的多态性变化。SUR1基因 3 3号外显子 13 70位 (TCC→GCC ,S13 70A)的多态性变化 ,在 2型DM和正常人群之间差异有显著性 (P <0 .0 5)。结论 SUR1基因可能是中国南方
Objective To st ud y whether the polymorphism of human sulfonylurea receptor 1 (SUR1) gene is corre lated with type 2 diabetes mellitus (DM) in Southern China. Meth ods Fifty-one normal subjects and 105 patients with type 2 DM in Southern China were included. Genomic DNA was extracted from white cells of p erepheral blood. Four aim fragments containing polymorphism sites were amplified by PCR and then were digested by restrictive enzymes. The genotypes were analyz ed through the electrophoretogram. Subcoloning and sequencing the PCR products w hich represent variant type of electrophoretogram were applied to verify the con sistency between the genotype and electrophoretogram. SAS software were used in statistical analysis for the results. Results A n intronic t→c change located at position -3 of the exon 16 splice acceptor sit e was found to show no significant difference between type 2 DM patients and nor mal subjects; ACC→ACT silent variant in exon 18 (T761T) and genotype of C/T and T/T were not found in the population studied. A silent mutation in exon 31 (AGA →AGG, R1273R) and genotypes of A/G and A/A were not found in the population stu died. The missense mutation frequency in exon 33 (TCC→GCC, S1370A) in patients with type 2 DM was significantly higher than that in normal subjects ( P<0.05). Conclusion The polymorphism sites within human SUR1 gene are correlated with population with type 2 DM in S outhern China. SUR1 gene is possibly a susceptible gene for type 2 DM in Souther n China.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2003年第5期371-374,共4页
Chinese Journal of Endocrinology and Metabolism
基金
国家人类基因组南方中心资助项目 (CNCS 98m 1 1 )
关键词
磺脲类药物受体1
基因多态性
2型糖尿病
相关性
易感基因
Diabetes mellitus, non-insulin-depend ent
Gene, SUR1
Polymerase chain reaction
Polymorphism, restriction fragment l ength
