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

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.