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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

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【作者】 史怡君陈加棠俞平水泉祥张继秀周柏林高翼之黄晓明宗卉胡向阳李明发蒋清

【Author】 Shi Yijun, et al. Zhejiang Medical University, Hangzhou 310006

【机构】 浙江医科大学浙江医科大学南京铁道医学院

【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。

【Abstract】 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.

【基金】 浙江省自然科学基金;江苏省卫生厅基金
  • 【文献出处】 中华医学遗传学杂志 ,Chinese Journal of Medical Genetics , 编辑部邮箱 ,1993年02期
  • 【被引频次】2
  • 【下载频次】36
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