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MODY的研究进展 被引量:3

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摘要 青少年发病的成年型糖尿病 (MODY)是 2型糖尿病中的一种异质性单基因疾病 ,特点是常染色体显性遗传。随着基因定位克隆和候选克隆等技术的发展 ,多个 2型糖尿病的易感性特定缺陷基因及其标记位点已被阐明。讨论了肝细胞核转移因子 (HNF) 4α、葡萄糖激酶 (GCK)、HNF 1α、胰岛素启动因子 (IPF) 1的基因缺陷和有关MODY的发病机制。
出处 《国外医学(内分泌学分册)》 2000年第1期42-45,共4页 Foreign Medical Sciences(Section of Endocrinology)
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  • 1M. P. Bulman,M. J. Dronsfield,T. Frayling,M. Appleton,S. C. Bain,S. Ellard,A. T. Hattersley. A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young[J] 1997,Diabetologia(7):859~862

同被引文献40

  • 1翁建平.从MODY的临床研究看2型糖尿病的异质性[J].国外医学(内分泌学分册),2004,24(4):268-268. 被引量:2
  • 2陈陵霞,纪立农,韩学尧,祝方.2型糖尿病家系Calpain10基因多态性的研究[J].中华医学杂志,2003,83(21):1856-1859. 被引量:11
  • 3曾小云,谢自敬,阿不力克木,伊力哈木.新疆维吾尔族2型糖尿病家系成员体质量指数与糖代谢、血脂、血压的关系[J].中国临床康复,2006,10(32):30-31. 被引量:4
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  • 6Huang XD, Allan Vaag, Emma Carlsson, et al. Impaired cathepsin L gene expression in skeletal muscle is associoted with type 2 diabetes[J]. Diabetes, 2003, 52: 2411-2418.
  • 7Hoffstet J, Nslund E, Arner P. Calpain-10 gene polymorphism is associoted with reduced β3-adrenoceptor function in human fat cells[J]. J Chin Endocrinol Metab, 2002, 87(7): 3362-3367.
  • 8Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus[J]. Nat Genet, 2000, 26(2): 163-175.
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  • 10Steven CE, Winston Chu, Ren QF, et al. Role of calpain-10 gene variants in familial type 2 diabetes in caucasians[J]. J Chin Endocrinol Metab, 2002, (87): 650-654.

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