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MODY及其相关基因的研究进展 被引量：3

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摘要 年轻的成年发病型糖尿病 (MODY)是一种常染色体显性遗传的单基因遗传病 ,它的发生与一定的基因突变相关联。目前已发现至少 6种MODY相关基因 ,即肝细胞核因子 4α(HNF 4α) /MODY1 ,葡萄糖激酶 (GCK) /MODY2、肝细胞核因子 1α(HNF 1α) /MODY3、胰岛素启动因子 1 (IPF 1 ) /MODY4、肝细胞核因子 1 β(HNF 1 β) /MODY5及MODY6/(BetaA2 /NEUROD1 ) ,后 5种基因均与胰岛素基因的转录调控有关。
作者 张涵涛
机构地区 西安交通大学第一医院内分泌科
出处 《国外医学（内分泌学分册）》 2001年第5期258-260,共3页 Foreign Medical Sciences(Section of Endocrinology)
关键词 MODY 遗传学 肝细胞核因子基因 葡萄糖激酶基因 糖尿病
分类号 R587.1 [医药卫生—内分泌]
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参考文献18

  • 1Byrne M M,Sturis J,Menzel S,et al.Alter insulin secretory responses to glucose in diabetic and nondiabetic subject with mutation in the diabetes susceptibility gene MODY3 on chromosome[J].Diabetes,1996,45:1503-1510.
  • 2Expert Committee.Report of the expert committee on the diagnosis and classification of diabetes mellitus[J].Diabetes Care,1997,20:1183-1197.
  • 3Winter W E,Nakamura M,House D V.Monogenic diabetes mellitus in youth:the MODY syndromes[J].Endocrinol Metab Clin North Am,1999,28:765-785.
  • 4Furuta H,Iwasaki N,Oda N,et al.Organization and partial sequence of the HNF-4α/MODY1 gene and identification of a missense mutation,R127W,in a Japanese family with MODY[J].Diabetes,1997,46:1652-1657.
  • 5Yamagata K,Ruruta H,Oda N,et al.Mutation in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young(MODY1)[J].Nature,1996,384:458-460.
  • 6Velho G,Blanche H,Vaxillaire M,et al.Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families[J].Diabetologia,1997,40:217-224.
  • 7Frayling T M,Bulman M P,Ellard S,et al.Mutation in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the UK[J].Diabetes,1997,46:720-725.
  • 8Glucksman M A,Lehto M,Tayber O,et al.Novel mutations and a mutational hotspot in the MODY3 gene[J].Diabetes,1997,46:1081-1086.
  • 9Hansen T,Eiberg H,Rouard M,et al.Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene[J].Diabetes,1997,46:726-730.
  • 10Stoffers D A,Zinkin N T,Stanojevic V,et al. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence[J].Nat Genet,1997,15:106-110.

同被引文献17

  • 1龙茸,杨莹.青少年的成人起病型糖尿病的发病机制及防治研究进展[J].世界最新医学信息文摘,2019,0(99):43-44. 被引量：2
  • 2Fajans S S,Bell G I,Polonsky K S.Molecular mechanisms and clinical pathoysiology of maturiy-onset diabetes of the young[J].N Engl J Med,2001,345:971 ～ 980
  • 3Barrio R,Bellanne-Chantelot C,Moreno J C.et al.Nine novel mutation in maturity-onset diabetes of the young (MODY) candidate genes in 22Spanish families[J].J clin Endocrinol Metab,2002,87:2532 ～ 2539
  • 4Winter W E,Nakamura M,House D V.Monogenic diabetes young(MODY1) transcription factor HNF-4Va regulate expression of genes required for glucose transport and metabolism(J).Proc Natl Acad Sci USA,1997,94:13209 ～ 13214
  • 5Stoffers D A,Ferrer J,Clarke W L,et al.Early-onset diabetes mellitus(MODY4) liked to IPF-1[J].Nat Gnet,1997,17:138 ～ 139
  • 6Liza L.llag,Bahman P.Tabaei,William H.Herman,et al:Reduceced pancreatic polypeptide response to typoglycemia and a mylin response to arginine in subjects with a mutation in the HNF-4a/MONDYI gene.Diabetes[J] 2000;49:961 ～ 967
  • 7Yamagata K,Oda N,Kaisaki PJ,et al.Mutations in the hepatocyte nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3)[J].Nature,1996,384:458 ～ 460
  • 8Huang H P,Chu K Nemoz-Gailard E,et al.Neogenesis of beta-cell in adult BETA2/NeoroD-deficient mice[J],Mol Endocrinol,2002,16:541 ～ 551
  • 9Graeme I.Bell,Kun-san xiang,Gene for non-insulin-dependent diabetes mellitus(maturity-onset diabetes of the yong subtype)is linked to DNA polymorphism on human chromosome 20q.Genetics,1991,2(88),1484 ～ 1488
  • 10林建立,林丽香,庄维特.MODY的研究进展[J].国外医学（内分泌学分册）,2000,20(1):42-45. 被引量：3

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国外医学（内分泌学分册）
2001年 第5期

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