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2型糖尿病患者脂蛋白脂酶常见变异基因检测
引用本文:阎秀娟,李华,宋国英,陈辉,郑丽丽,李晓雯. 2型糖尿病患者脂蛋白脂酶常见变异基因检测[J]. 郑州大学学报(医学版), 2005, 40(1): 38-41
作者姓名:阎秀娟  李华  宋国英  陈辉  郑丽丽  李晓雯
作者单位:1. 郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州,450052
2. 郑州大学第一附属医院内分泌科,郑州,450052
基金项目:河南省自然科学基金资助项目 0211043600
摘    要:目的:探讨脂蛋白脂酶(LPL)基因三种常见基因变异(Asp9Asn、Asn291Ser和Ser447Ter)与2型糖尿病的相关性。方法:采用PCR—RFLP方法,分析102例2型糖尿病患者(病例组)及113名健康体检者(对照组)LPL基因Asp9Asn、Asn291Ser和Ser447Ter位点多态性。结果:病例组和对照组中未发现Asp9Asn及Asn291Ser突变,病例组Ter447等位基因和Ser447Ter基因型频率均低于对照组(3.4%vs7.6%;6.9%vs15.0%),其差异非常接近显著性水平(P=0.065和P=0.057)。结论:我国汉族人群脂蛋白脂酶基因Asp9Asn、Asn291Ser突变位点与2型糖尿病无明显关联,而S447X突变能引起有益的血脂改变,很可能与2型糖尿病发病率降低相关。

关 键 词:脂蛋白脂酶 基因 2型糖尿病 限制性片断长度多态性
修稿时间:2004-03-20

Detection of the common gene variation in the lipoprotein lipase gene in patients with type 2 diabetes mellitus
YAN Xiujuan ),LI Hua ),SONG Guoying ),CHEN Hui ),ZHENG Lili ),LI Xiaowen ) ). Detection of the common gene variation in the lipoprotein lipase gene in patients with type 2 diabetes mellitus[J]. Journal of Zhengzhou University: Med Sci, 2005, 40(1): 38-41
Authors:YAN Xiujuan )  LI Hua )  SONG Guoying )  CHEN Hui )  ZHENG Lili )  LI Xiaowen ) )
Affiliation:YAN Xiujuan 1),LI Hua 2),SONG Guoying 1),CHEN Hui 1),ZHENG Lili 2),LI Xiaowen 1) 1)Department of Cell Biology and Medical Genetics,College of Basic Medical Sciences,Zhengzhou University,Zhengzhou 450052 2)Department of Endocrinology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052
Abstract:Aim: To investigate the relationship between the three common gene variation in the lipoprotein lipase(LPL) gene (Asp9Asn,Asn291Ser, and Ser447Ter) and type 2 diabetes mellitus (NIDDM). Methods: PCR-RFLP was used to determine the three common gene variation in the LPL gene in 102 NIDDM patients and 113 controls of Han nationality. Results: Asp9Asn and Asn291Ser variants were not found either in 102 NIDDM patients or in 113 controls. The frequencies of the Ter447 allele and Ser447Ter genotype were lower in NIDDM patients than those of controls (3.4% vs 7.6%;6.9% vs 15.0%). The differences were very close to the significant level (P=0.065 and P=0.057). Conclusion: Asp9Asn and Asn291Ser polymorphisms in the LPL gene might be not associated with type 2 diabetes mellitus in Chinese people of Han nationality. But the S447X variation in the LPL gene can engender beneficial variations on plasma lipoprotein metabolism and likely associate with depression of the incidence of type 2 diabetes mellitus.
Keywords:lipoprotein lipase  gene  type 2 diabetes mellitus  restriction fragment length polymorphism
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