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线粒体糖尿病一例家系分析 被引量：2

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摘要 线粒体糖尿病在临床上十分少见，截止2005年国内报道的线粒体基因nt3243A→G突变糖尿病家系33个，患者共104例。以下对我们新发现的1例线粒体糖尿病家系分析如下。
作者 王彩玲 张钰 张晓倩 李海珍 侯钦芝 宁光
机构地区 山东省千佛山医院内分泌科 上海交通大学附属瑞金医院内分泌科
出处 《中华内科杂志》 CAS CSCD 北大核心 2008年第2期148-150,共3页 Chinese Journal of Internal Medicine
关键词 线粒体糖尿病 家系分析 糖尿病家系 线粒体基因 G突变
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献10

  • 1翁建平.线粒体基因突变糖尿病的现状及筛查与诊治的建议[J].中华医学杂志,2005,85(28):1951-1956. 被引量：45
  • 2任艳,李秀钧,田浩明,梁荩忠,韩令川,张翔迅,喻红霖,余叶蓉,刘瑞,赵桂芝,王嘉南.线粒体糖尿病家系基因突变的遗传学筛查[J].中华医学遗传学杂志,2003,20(3):181-185. 被引量：13
  • 3Maassen JA,'t Hart LM, Van Essen E, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes, 2004,53 Suppl 1 :S103-109.
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二级参考文献39

  • 1张庆,曾瑞萍,杜传书,修玲玲,程桦.家族性糖尿病中线粒体tRNA^(Leu(UUR))基因突变的发生率及临床特点[J].中山大学学报（医学科学版）,1997,17(S1):62-65. 被引量：3
  • 2张秀英,张胜兰,克丙申,姜兆顺,孙荣.线粒体tRNA^(Leu(UUR))A3243G基因突变与2型糖尿病的相关研究[J].中华医学遗传学杂志,2004,21(2):168-170. 被引量：5
  • 3项坤三,王延庆,吴松华,陆惠娟,郑泰山,孙多奇,翁青,贾伟平,沈卫平,浦鎏,何进卫.线粒体tRNA^（Leu（UUR））基因突变糖尿病──患病率估测、临床特点及基因诊断途径[J].中国糖尿病杂志,1995,3(3):129-135. 被引量：34
  • 4Ng MC,Yeung VT,Chow CC, et al. Mitochondrial DNA A3243 Gmutation in patients with early-or late-onset type 2 diabetes mellitus in Hong Kong Chinese. Clin Endocrinol. 2000, 52: 557-564.
  • 5Goto Y, Horai S. A mutation in the tRNA^Leu(UUR) gene associated with MELAS subgroup in mitochondrial encephalomyopathies.Nature, 1990, 348: 651-653.
  • 6Nakagawa Y, Ikegami H, Yamato E, et al. A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun, 1995, 209 : 664-666.
  • 7Odawara M, Sasaki K, Yamashita K, et al. A G-to-A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun, 1996, 227:147-151.
  • 8Nakano S, Fukuda M, Hotta F, et al. Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes. Endo J, 1998, 45: 625-630.
  • 9Ji LN, Hou XM, Han XY. Prevalence and clinical chararcteristics of mitochondrial tRNA^Leu(UUR) mt3243A→G and ND1 gene mt 3316GA mutations in Chinese patients with type 2 diabetes. Nail Med J China(English) ,2001,114 : 1205-1207.
  • 10Hirai M, Suzuki S, Onoda M, et al. Mitochondrial DNA 3394 mutation in the NADH dehydro-genase subunit 1 associated with noninsulin-dependent diabetes mellitus. Biochem Biophys Res Commun,1996, 219: 951-955.

共引文献54

同被引文献16

  • 1翁建平.线粒体基因突变糖尿病的现状及筛查与诊治的建议[J].中华医学杂志,2005,85(28):1951-1956. 被引量：45
  • 2OzawaM, NonakaI, GotoY. Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome[J]. J Neurol Sci, 1998,159(2):170-175.
  • 3van den OuwelandJM, LemkesHH, RuitenbeekW, et al. Mutation in mitochondrial tRNA(Leu)(UUR)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness[J]. Nat Genet, 1992,1(5):368-371. DOI: 10.1038/ng0892-368.
  • 4GotoY, NonakaI, HoraiS. A mutation in the tRNA(Leu)(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies[J]. Nature, 1990,348(6302):651-653. DOI: 10.1038/348651a0.
  • 5MaassenJA, 'T HartLM, Van EssenE, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation[J]. Diabetes, 2004,53(Suppl 1):S103-S109.
  • 6TsaiK, WangSS, ChenTS, et al. Oxidative stress: an important phenomenon with pathogenetic significance in the progression of acute pancreatitis[J]. Gut, 1998,42(6):850-855.
  • 7KishnaniPS, Van HoveJL, ShoffnerJS, et al. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR)gene[J]. Eur J Pediatr, 1996,155(10):898-903.
  • 8VernyC, Amati-BonneauP, LetournelF, et al. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis[J]. Diabetes Metab, 2008,34(6Pt 1):620-626. DOI: 10.1016/j.diabet.2008.06.001.
  • 9PagonRA, AdamMP, ArdingerHH, et al. GeneReviews[M]. Seattle(WA): University of Washington, 2014.1993-2016.
  • 10MazzaccaraC, IafuscoD, LiguoriR, et al. Mitochondrial diabetes in children: seek and you will find it[J]. PLoS One, 2012,7(4):e34956. DOI: 10.1371/journal.pone.0034956.

引证文献2

二级引证文献5

中华内科杂志
2008年 第2期

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