期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

强直性肌营养不良一家系的临床和致病基因初步分析 被引量：2

Clinical and genetic analysis of a pedigree of myotonic dystrophy disease
在线阅读 下载PDF
导出
摘要 目的:探讨浙江台州地区一个强直性肌营养不良(myotonic dystrophy,DM)汉族家系的临床表现和分子遗传学基础。方法:分析该家系44例成员中8例(包括先证者13)临床确诊为DM患者的临床表现,以及5例患者和6例无症状成员的肌电图表现,并对7例DM患者(除6外)的DNA样品进行DM1和DM22个位点PCR扩增、琼脂糖电泳检测,对克隆产物进行测序。结果:该家系患者除有肌强直、肌萎缩等表现外;心电图检查:心脏传导阻滞(7/8);裂隙灯检查:白内障(6/7);肌电图检查:患者组有强直电位发放(5/5),无临床症状成员也存在肌源性损害(5/6);但该家系无DM1位点(CTG)n和DM2位点(CCTG)n的重复数增加。结论:强直性肌营养不良可能存在新的致病基因位点。 Objective： To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease. Methods： The proband and available family members were identified by neurological examination. The clinical manifastation of 8 patients（including the proband）was analyzed; the electromyographic data of 5 patients were compared with 6 other family members. Blood samples were obtained from the 7 patients of the family （excepting Ⅱ6）. DM1 and DM2 gene were amplified by PCR,tested by agarose electrophoresis,then analyzed by genetic analyzer. Results： Myotonia and muscle weakness were the main manifestations associated with heart block （7/8） and cataract （6/7）. Electromyologram showed myopathic abnormalities not only in patients but also in other members of the family （5/6）.The CTG repeats in DM1 and CCTG repeats in DM2 were all in normal range. Conclusion： There likely to be new mutants in this DM pedigree and further study is needed.
作者 丁瑶 丁美萍 尹厚民 郭谊 张进 赵国华 王晶 刘志蓉
机构地区 浙江大学医学院附属第二医院神经内科
出处 《浙江大学学报（医学版）》 CAS CSCD 2008年第5期494-498,共5页 Journal of Zhejiang University(Medical Sciences)
关键词 肌强直 营养不良性/遗传学 肌电描记术 家庭 汉族 Myotonic dystrophy/genet Electromyography Family HAN NATIONALITY
分类号 R746.2 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献12

  • 1FU Y H,PIZZUTI A,FENWICK R G,et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy[J]. Science, 1992,255(5049) :1256-1258.
  • 2LIQURI C L,RICKER K,MOSELEY M L,et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 [J].Science,2001,293(5531) :864-867.
  • 3GRIGGS R C,WOOD D S,MOXLEY R,et al. Criteria for establishing the validity of genetic recombination in rnyotonic dystrophy[J]. Neurology, 1989,39 (3) : 420-421.
  • 4SHIYuquan(史玉泉).Practice of Neurology(实用神经病学)[M].Shanghai : ShanghaiScience and Technology Press ,2004 : 1265-1266.
  • 5KLESERT T R,CHO D H,CLARK J I,et al. Mice deficient in Six 5 develop cataracts: implications for myotonic dystrophy [J].Nat Genet,2000,25(1) :105 109.
  • 6ROIQ M,BALLIU P R,NAVARRO C,et al. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy [J].Pediatric Neurology, 1994,11 (3) : 208-213.
  • 7CHO D H,TAPSCTT S J. Myotonic dystrophy: emerging mechanisms for DM1 and DM2 [J]. Biochim Biophys Acta,2007,1772(2) :195-204.
  • 8KUO H C, HSIEH Y C,WANG H M,et al. Correlation among subcortical white matter lesions ,intelligence and CTG repeat expansion in classic myotonic dystrophy type 1[J]. Acta Neurol Scand,2008,117(2) :101-107.
  • 9SERGEANT N, SABLONNIERE B, SCHRAEN MASCHKE S, et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1 [J]. Hum Mol Genet,2001,10(19) :2143-2155.
  • 10WIESER T, BONSCH D, EC-ER K, et al. A family with PROMM not linked to the recently mapped PROMM locus DM2[J]. Neuromuscul Disord ,2000,10(2) : 141-143.

二级参考文献12

  • 1Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep, 2002, 2:465-470.
  • 2Kuang SQ, Wang JM, Huang W, et al. Fluorescence-based semiautomated gene scan with microsatellite markers by multiplex PCR techniques. Chin J Med Genet, 1998, 15:104-107.[况少青, 王健民, 黄薇, 等. 应用多重PCR技术进行微卫
  • 3Groenen P, Wieringa B. Expanding complexity in myotonic dystrophy. Bioessays, 1998, 20:901-912.
  • 4Tapscott SJ. Deconstructing myotonic dystrophy. Science, 2000, 289:1701-1702.
  • 5Reddy S, Smith DB, Rich MM, et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet, 1996, 13:325-335.
  • 6Klesert TR, Cho DH, Clark JI, et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet, 2000, 25:105-109.
  • 7Sarkar PS, Appukuttan B, Han J, et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet, 1996, 13:110-114.
  • 8Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science, 2001, 293:864-867.
  • 9Finsterer J. Myotonic dystrophy type 2. Eur J Neurol, 2002, 9:441-447.
  • 10Ranum LP, Day JW. Dominantly inherited, non-coding microsatellite expansion disorders. Curr Opin Genet Dev, 2002, 12:266-271.

共引文献4

同被引文献12

  • 1吕海东,李增富,张三军,秦东香,钱琪,马晓丽,袁利,卢燕婉.强直性肌营养不良症的临床与肌肉病理学特点[J].临床神经病学杂志,2008,21(6):428-430. 被引量：6
  • 2叶励超,慕容慎行,吴志英,王柠,陈万金,林珉婷.强直性肌营养不良症的临床特点[J].临床神经病学杂志,2006,19(6):447-449. 被引量：20
  • 3Ausubel JH. Industrial ecology: reflections on a colloquium. Proc Natl Acad Sci USA, 1992,89: 879-884.
  • 4Martorell L, Monekton DG, Sanchez A, et al. Frequency and stability of the myotonie dystrophy type 1 premutation. Neurology, 2001,56: 328-335.
  • 5Brook JD, MeCurraeh ME, Harley HG, et al. Molecular ba- sis of myotonie dystrophy: expansion of a trinucleotide (CTG) repeat at the 3'end of a transcript encoding a protein kinase family member. Cell, 1992,68: 799-808.
  • 6Liquori CL, Ikeda Y, Weatherspoon M, et al. Myotonic dys- trophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Genet, 2003, 73: 849-862.
  • 7Colliver JA, Verhulst SJ, Williams RG. Using a standard- ized-patient examination to establish the predictive validity of the MCAT and undergraduate GPA as admissions criteria. Acad Med, 1989,64: 482-484.
  • 8Tan EC, Lai PS. Molecular diagnosis of neurogenetic disor- ders involving trinucleotide repeat expansions. Expert Rev Mol Diagn, 2005,5 : 101-109.
  • 9Liquori CL, Ricker K, Moseley ML,et al. Myotonic dystro- phy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science, 2001,293: 864-867.
  • 10Le Ber I, Martinez M, Campion D, et al. A non-DM1, non- DM2 multisystem myotonic disorder with frontotemporal de mentia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21 24. Brain, 2004,127: 1979-1992.

引证文献2

二级引证文献1

浙江大学学报（医学版）
2008年 第5期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部