期刊信息
- 刊名： 河北师范大学学报（自然科学版）Journal of Hebei Normal University (Natural Science)
- 主办： 河北师范大学
- ISSN： 1000-5854
- CN： 13-1061/N
- 中国科技核心期刊
- 中国期刊方阵入选期刊
- 中国高校优秀科技期刊
- 华北优秀期刊
- 河北省优秀科技期刊
Gene Diagnosis of Duchenne Muscular Dystrophy with PCR Amplification
摘要/Abstract
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。
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.