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DMD基因及其突变与诊断检测技术研究进展 被引量：2

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摘要 1 DMD基因及其突变 DMD/BMD是由于DMD基因突变影响dystrophin蛋白在横纹肌组织的表达,导致肢体近端骨骼肌进行性萎缩、无力和腓肠肌假性肥大,为X连锁隐性遗传病。DMD基因是人类最大的基因之一,位于Xp21,在基因组序列上跨越了2.5Mb,占全部基因组序列长度的0.1%,占X染色体全长的1.5%。该基因99%的序列由内含子组成,编码区包括79个外显子及7个组织特异性的启动子[1]。
作者 付华钰 蒙达华 杜娟 韦波
机构地区 广西壮族自治区妇幼保健院优生遗传门诊 Texas Southern University
出处 《中国优生与遗传杂志》 2014年第7期5-6,共2页 Chinese Journal of Birth Health & Heredity
关键词 DMD基因 DMD基因突变 DMD基因诊断 DMD产前诊断
分类号 R440 [医药卫生—诊断学]
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参考文献11

  • 1Francesco M, Silvia T, Alessandra F.Dystrophin and mutations : one gene, several proteins, multiple phenotypes[J].The Lancet, Neurology, 2003, 2:731-740.
  • 2Blake DJ, Weir A, Newey SE, et al.Function and genetics of dystrophin and dystrophin-related proteins in Muscle[J].Physiology Review, 2002, 82:291-329.
  • 3Mendell JR, Buzin CH, Feng J, et al.Diagnosis of Duchenne dystrophin by enhanced detection of small mutations[J].Neurology, 2001,57 :645-650.
  • 4Yau SC, Bobrow M, Mathew CG, et al. Accurate diagnosis of carders of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis[J].Journal of Medical Genetics, 1996, 33:550-558.
  • 5Berouda C, Carrieb A, Beldjord C, et al.Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene[J].Neuromuscular Disorders, 2004, 14 : 10-18.
  • 6White S, Kalf M, Liu Q, et al.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization[J].American Journal of Human Genetics, 2002,71:365-374.
  • 7Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation dependent probe amplification[J].Nucleic Acids Research, 2002,30:57-69.
  • 8Gatta V, Scarciolla O, Gaspari AR, et al.Identification of deletions and duplications of the DMD gene in affected males and carder females by multiple ligation probe amplification (MLPA) [J]. Human Genetics, 2005,117:92-98.
  • 9吴有光,匡渤海,冯微,胡川.DMD的产前基因诊断小结[J].江西医学院学报,2002,42(2):106-107. 被引量：4
  • 10钟昌高,张瞻,李麓芸,卢光琇.10个DMD/BMD家系的基因诊断及其中3个家系的产前基因诊断分析[J].医学临床研究,2006,23(9):1352-1355. 被引量：3

二级参考文献22

  • 1许顺斌,黄尚志,罗会元.DMD/BMD 基因诊断的新体系—Amp-FLP 单体型连锁分析[J].中国医学科学院学报,1993,15(6):405-410. 被引量：7
  • 2Muntoni F,Torelli S,Ferlini A.Dystrophin and mutations:one gene,several proteins,multiple phenotypes.Lancet Neurol,2003,2(12):731-740.
  • 3Moser H.Duchenne muscular dystrophy:pathogenetic aspects and genetic prevention.Hum Genet,1984,66(1):17-40.
  • 4Schouten JP,McEIgunn CJ,Waaijer R,Zwijnenburg D,Diepvens F,Pals G.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.Nucleic Acids Res,2002,30(12):e57.
  • 5Florentin L,Bili C,Kekou K,Tripodis N,Mavrou A,Metaxotou C.Mapping dystrophin gene recombinants in Greek DMD/BMD families:low recombination frequencies in the STR region.Hum Genet,1995,96(4):423-426.
  • 6Nasiri H,Forouzandeh M,Rasaee M J,Rahbarizadeh F.Modified salting-out method:high-yield,high-quality genomic DNA extraction from whole blood using laundry detergent.J Clin Lab Anal,2005,19(6):229-232.
  • 7Lo YM,Corbetta N,Chamberlain PF,Rai V,Sargent IL,Redman CW,Wainscoat JS.Presence of fetal DNA in maternai plasma and serum.Lancet,1997,350(9076):485-487.
  • 8White S,Kalf M,Liu Q,Villerius M,Engelsma D,Kriek M,Vollebregt E,Bakker B,van Ommen GJ,Breuning MH,den Dunnen JT.Comprehensive detection of genomic duplications and deletions in the DMD gene,by use of multiplex amplifiable probe hybridization.Am J Hum Genet,2002,71(2):365-374.
  • 9Tuffery S,Chambert S,Bareil C,Sarda P,Coubes C,Echenne B,Demaille J,Claustres M.Mutation analysis of the dystrophin gene in Southern French DMD or BMD families:from Southern blot to protein truncation test.Hum Genet,1998,102(3):334-342.
  • 10Chamberlain JS,Gibbs RA,Ranier JE,Nguyen PN,Caskey CT.Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.Nucleic Acids Res,1988,16(23):11141-11156.

共引文献13

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中国优生与遗传杂志
2014年 第7期

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