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。
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
参考文献10
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二级参考文献39
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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
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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
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共引文献54
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1杨文英.硕果累累,开辟新径——中国糖尿病临床与基础研究进展回顾[J].中华糖尿病杂志,2009,1(5). 被引量:4
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2于德民,李明珍,刘德敏.早发糖尿病线粒体基因突变的研究[J].中华医学遗传学杂志,2005,22(1):14-17. 被引量:7
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3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
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4贾伟平,王从容.中国人单基因突变糖尿病及肥胖病的研究[J].国际内分泌代谢杂志,2006,26(3):145-148.
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5赵硕生,胡卫红,管青,孙自镛.线粒体DNA ND1基因3394 T→C突变与2型糖尿病[J].中华医学杂志,2006,86(29):2077-2078. 被引量:1
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6赵晶,季敬璋,汪大望,张洁,吴惠洁,吕建新.温州地区2型糖尿病患者线粒体DNA3243、3316位点的突变筛查[J].遗传,2006,28(10):1206-1212. 被引量:8
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7刘松梅,周新,郑芳,李霞,秦汉,张红梅,李东.基因芯片筛查糖尿病线粒体基因突变[J].中华医学杂志,2006,86(40):2853-2857. 被引量:6
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8石柔,吴于滨,宋滇平.线粒体基因突变与糖尿病[J].疑难病杂志,2007,6(5):308-309. 被引量:1
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9季敬璋,吕建新,叶薇,胡昕,汪大望.2型糖尿病患者mtDNA变异筛查研究[J].中华医学遗传学杂志,2007,24(2):167-172. 被引量:6
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10万慧,贾伟平,张蓉,王从容,方启晨,项坤三.单基因突变糖尿病与2型糖尿病糖脂代谢指标的比较[J].上海医学,2007,30(7):481-484. 被引量:3
同被引文献16
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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
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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.
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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.
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5MaassenJA, 'T HartLM, Van EssenE, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation[J]. Diabetes, 2004,53(Suppl 1):S103-S109.
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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.
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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.
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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.
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9PagonRA, AdamMP, ArdingerHH, et al. GeneReviews[M]. Seattle(WA): University of Washington, 2014.1993-2016.
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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
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1杨篷,张曼娜,盛春君,李妍,周娇娇,崔文洁,曲伸.线粒体tRNA^(Leu(UUR))基因A3243G突变糖尿病患者的临床特征[J].中国糖尿病杂志,2015,23(2):97-101. 被引量:4
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2祝洁,杨篷,张曼娜,李妍,盛春君,程晓芸,盛辉,李鸿,曲伸.线粒体糖尿病伴急性胰腺炎家系分析[J].中华内分泌代谢杂志,2016,32(9):734-738. 被引量:3
二级引证文献5
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1荆家琦,张景亮,李晓婷,王骑凤,翟广玉.郑州地区线粒体基因突变与2型糖尿病相关性分析[J].阜阳师范学院学报(自然科学版),2016,33(4):58-61. 被引量:1
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2马惠敏,邵雪景,温洪华,冯亚敏,祝群.线粒体tRNA^(Leu(UUR))基因A3243G突变型糖尿病患者的家系分析及随访[J].现代生物医学进展,2018,18(1):65-69. 被引量:2
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3田利华,韩学尧,纪立农.线粒体基因tRNALeu(UUR)A3243G突变糖尿病临床特征的Meta分析[J].中国糖尿病杂志,2018,26(7):543-554. 被引量:9
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4徐倩,章诗琪,夏莉,章秋,郑萍萍,邓大同.母系遗传糖尿病伴耳聋综合征的临床特征及基因分析[J].中华诊断学电子杂志,2021,9(1):17-21.
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5彭慧芳,付留俊,杨昆木,强军,陈殿森,刘婕,贾竹敏,张颖裕,胡可嫣,姜宏卫.线粒体糖尿病伴慢性遗传性胰腺炎复合突变家系报道[J].中华内分泌代谢杂志,2021,37(8):752-756. 被引量:1
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1章晓芳,俞灵莺,张险峰.线粒体糖尿病1例[J].实用医学杂志,2014,30(19):3203-3203. 被引量:1
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