节点文献
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
【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.
【关键词】 Duchenne型肌营养不良症;
多聚酶链式反应;
基因缺失;
【Key words】 Muscular dystrophy Polymerase chain reaction Gene deletion;
【Key words】 Muscular dystrophy Polymerase chain reaction Gene deletion;
【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