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利用脐带血穿刺标本产前诊断杜氏肌营养不良症一例 被引量:3

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摘要 孕妇34岁,孕1产0,籍贯上海,家族中其舅舅、弟弟均患杜氏肌营养不良症(duchenne muscular dystrophy,DMD),于少年期死亡.该孕妇非近亲结婚,孕18周,要求产前诊断,转入我院.孕期无特殊,B超提示胎儿与孕周相符,未见异常.入院后B超引导下行羊膜腔穿刺,诊断胎儿为男性后行胎儿脐带血穿刺,抽取胎儿血化验肌酸磷酸激酶,并按常规方法提取DNA.
出处 《中华围产医学杂志》 CAS 2005年第6期432-433,共2页 Chinese Journal of Perinatal Medicine
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参考文献7

  • 1Beggs AH, Koenig M, Boyce FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet,1990,86 :45-48.
  • 2Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res, 1988,23:11141-11156.
  • 3Kumari D, Mital A, Gupta M, et al. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis. Neurol India,2003,51:223-226.
  • 4王敏,金春莲,林长坤,王雁,武盈玉,孙开来.杜氏肌营养不良症的无创性产前基因诊断研究[J].中华医学遗传学杂志,2001,18(2):139-142. 被引量:6
  • 5曾溢滔 张美兰 徐宇君.应用DNA限制性片段长度多态性分析进行杜氏肌营养不良症的产前诊断[J].中华医学杂志,1988,68:565-567.
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二级参考文献2

共引文献5

同被引文献22

  • 1高文英,佟彤,陈悦,卜桦,张玉琴.应用PCR-STR方法对DMD高危家族产前基因诊断[J].中国优生与遗传杂志,2006,14(2):13-14. 被引量:2
  • 2Kumari D, Mital A, Gupta M, et al. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis [J]. Neurol India, 2003, 51: 223-226.
  • 3Beggs AH, Koenig M, Boyce FM, et al. Detection of 98% of DMD / BMD gene deletions by polymerase chain reaction [J]. Hum Genet, 1990, 86:45-48.
  • 4Hodgson SV, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy [J]. J Med Genet, 1989, 26:682-693.
  • 5[1]Beggs AH,Koenig M,Boyce FM,et al.Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.Hum Genet,1990,86:45-48.
  • 6[2]Chamberlain JS,Gibbs RA,Ranier JE,et al.Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.Nucleic Acids Res,1988,23:11141-11156.
  • 7[4]Kumari D,Mital A,Gupta M.Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients:Use in carrier diagnosis.Neurol India,2003,51:223-226.
  • 8[5]Emery AE.Muscular dystrophy into the new millennium.Neuromuscul Disord.2002,12:343-349.
  • 9[7]Kim UK,Chae JJ,Lee SH,et al.Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis.Mol Cells,2002,13:385-388.
  • 10[8]Sinha S,Mishra S,Singh V,et al.High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients.Clin Genet,1996,50:327-331.

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