线粒体12S rRNA基因突变与2型糖尿病

Mutations of mitochondrial 12S rRNA gene in type 2 diabetes

目的 观察线粒体 12 S r RNA1310、1438及 144 2位点在中国汉族 2型糖尿病患者群体中的突变情况 ,同时筛查该区域与 2型糖尿病发生有关的突变。方法 采用 PCR- SSCP及 PCR产物直接测序等技术对 86例 2型糖尿病患者及 70名正常对照个体的血细胞线粒体 DNA进行突变分析。结果 发现 1例患者线粒体 DNA 12 S r RNA基因 1438位点存在 G→ A的点突变 ,另 1例存在 144 2位点 G→ A的点突变 ,所有对照个体均未发现该两位点的突变。未发现线粒体基因 12 S r RNA1310位点 C→ T点突变。结论 1438位点 G→ A、144 2位点 G→ A的突变可能与 2型糖尿病的发生相关 ,该两位点突变的具体意义如何尚需进一步研究。 1310位点 C→ T在血细胞中的突变率可能较低 ,进一步说明

Objective: To investigate mutations at points 1310, 1438 and 1442 of mitochondrial 12S rRNA gene in Chinese type 2 diabetes and screen for new mutations associated with type 2 diabetes in this area. Methods: The mitochondrial DNAs (mtDNAs) of 86 patients with type 2 diabetes and those of 70 normal controls were analyzed using PCR-SSCP and PCR product direct sequencing technique. Results: One patient was found with the mitochondrial DNA G&rarrA mutation at point 1438, and one with the G&rarrA mutation at point 1442, whereas none of the normal controls was found to have mutation at these two points. No C&rarrT mutation at nucleotide pair 1310 of the mitochondrial 12S rRNA gene was identified. Conclusion: The G&rarrA mutation at points 1438 and 1442 is likely to be associated with the development of type 2 diabetes; the occurrence of the C&rarrT mutation at point 1310 is probably rare in the blood cells, and the development of type 2 diabetes may be related to heterogeneity in mitochondrial genetic changes.