南方医科大学学报

南方医科大学学报 ›› 2006, Vol. 26 ›› Issue (09): 1301-1303.

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北京市100个早发糖尿病家系MODY1基因突变的筛查

贾贺堂； 张素华； 纪立农； 韩学尧；   

  1. 郑州大学一附院内分泌科； 重庆医科大学附一院内分泌科； 北京大学人民医院内分泌科； 北京大学人民医院内分泌科 河南郑州450052； 重庆400016； 北京100044；
  • 出版日期:2006-09-20 发布日期:2006-09-20
  • 基金资助:
    国家高技术研究发展计划专题项目(2002AA2230331)~~

Molecular scanning of MODY1 gene mutations in pedigrees of early onset type 2 diabetes in Beijing

JIA He-tang1, ZHANG Su-hua2, JI Li-nong3, HAN Xue-yao3 1Department of Endocrinology, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China; 2Department of Endocrinology, First Affiliated Hospital, Chongqing University of Medical Sciences, Chongqing 400016, China; 3Department of Endocrinology, Peoples Hospital, Peking University, Beijing 100044, China   

  1. 郑州大学一附院内分泌科； 重庆医科大学附一院内分泌科； 北京大学人民医院内分泌科； 北京大学人民医院内分泌科 河南郑州450052； 重庆400016； 北京100044；
  • Online:2006-09-20 Published:2006-09-20

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摘要： 目的早发2型糖尿病家系中可能存在MDOY1基因的致病突变,本研究旨在了解MDOY1基因(HNF-4α)在早发家族性2型糖尿病发病中的作用。方法收集100个2型糖尿病家系,先证者均在40岁前被诊断为糖尿病,且至少还有一个一级亲属在45岁之前被诊断糖尿病。提取先证者血DNA,用PCR产物扩增MDOY1基因的所有外显子和外显子/内含子拼接区,将PCR产物直接进行测序。SPSS进行统计分析。结果在MDOY1基因的筛查中,我们发现3个编码区的变异Exon1cM49V、Exon4T130I、Exon10S462S及二个非编码区的DNA变异IVS1C+44A>T、IVS-5C>T。结论MDOY1基因内或附近的基因变异不是早发2型糖尿病家系的主要致病原因。 

Abstract: Objective To explore MDOY1 gene mutations in pedigrees of early-onset familial type 2 diabetes. Methods We collected 100 early-onset type 2 diabetes pedigrees in Beijing, in which the probands were diagnosed with type 2 diabetes before the age of 40 years with at least one first-degree relative having such a diagnosis before the age of 45 years. PCR was employed to amplify all the exons and exon/intron splice sites of MDOY1 gene and the PCR products were sequenced to identify the DNA variants. Results Two DNA variants in the noncoding region including IVS1C +44A>T and IVS2 -5C>T were identified, and 3 mutations in the coding region we identified M49V, T130I, and S462S were found in these pedigrees. Conclusion Currently no sufficient evidence has been obtained to identify the variation in or near MDOY1 genes as the major cause of early-onset type 2 diabetic in Chinese population. 

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