在线阅读 --自然科学版 1998年3期《应用PCR技术对DMD做基因诊断的研究》
应用PCR技术对DMD做基因诊断的研究--[在线阅读]
谭凤钦, 张香改, 刘杰
河北省计划生育科研所, 石家庄, 050071
起止页码: 417--419页
DOI:
摘要
杜氏肌营养不良症(Duchennemusculardystrophy,DMD),是致死性X链锁隐性遗传病。应用聚合酶链反应(polymerasechainreaction,PCR)技术对6个DMD患者家系16例有关成员进行基因诊断。3个家系为缺失型予以确诊,非缺失型家系结合磷酸肌酸激酶(CPK)等指标及临床情况作出患者兄长不会发病的诊断。

Gene Diagnosis of Duchenne Muscular Dystrophy with PCR Amplification
Tan Fengqin, Zhang Xianggai, Liu Jie
Hebei Family Planning institute, 050071, Shijiazhuang, PRC
Abstract:
Duchenne Muscular Dystroplly (DMD) is a severe X-Linked recessiuemyopathy with an incidence of 1/3500 male births. Since the PCR technique has been invented, it has been interated into the DMD diagnosis quickly. Using 9 primer sets of mudtiplex amplification reactions,we examined 16 patients of six genealogy and one case lavebeen unsuffered. It can be predicted that the patient'S elder brother of non'leletionwouldn't have the diease and remind the patient'S mother that she must be performedprenatal diagnosis if she will be pregnant.
Key words: DMD; PCR; gene diagnosis;

收稿日期: 1996-12-25
基金项目:

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