用两步一多重PCR快速检测DMD患者的基因缺失  

RAPID DETECTION OF DELETIONS IN THE DUCHENNE MUSCULAR DYSTROPHY GENE BY TWO-STEP MULTIPLEX PCR

作　　者：史怡君[1] 陈加棠 俞平[1] 水泉祥[1] 张继秀[1] 周柏林[1] 高翼之[2] 黄晓明[2] 宗卉[2] 胡向阳[2] 李明发[2] 蒋清[2] 

机构地区：[1]浙江医科大学,杭州310006 [2]南京铁道医学院

出　　处：《中华医学遗传学杂志》1993年第2期89-91,共3页Chinese Journal of Medical Genetics

基　　金：浙江省自然科学基金;江苏省卫生厅基金

摘　　要：采用两步一多重多聚酶链式反应对24例无亲缘关系的DMD患者(其中包括4例女性患者)的DNA进行基因缺失检测。结果表明,检出的缺失型患者占受检患者总数的46%,缺失高发区在外显子45～51区域内。The DNA samples of 24 unrelated DMD patients, including 4 female patients, were detected for gene deletionscreening by two-step multiplex PCR. Five primers corresponding to exons 12, 17, 45, 48, 51 of DMD gene were used in the first multiplex PCR step and 4 primers corresponding to exons 4, 8, 19,44 in the second step. The results showed that 11 out of 24(46%) were found to have gene deletions and the high frequency region of gene deletion was with in exons 45-51.

关 键 词：肌营养障碍 聚合酶链反应 基因缺失 

分 类 号：R746.2[医药卫生—神经病学与精神病学]