用18对引物进行假性肥大型肌营养不良症的基因诊断

DETECTION OF DMD/BMD GENE DELETIONS BY POLYMERASE CHAIN REACTION WITH 18 PAIRS OF PRIMERS

多重聚合酶链式反应(mPCR)可以同时检测多个基因位点的改变,首次采用18对引物对四川地区17名假性肥大型肌营养不良症(DMD/BMD)患者的致病基因进行扩增。结果发现,其中9例缺失,其缺失位点集中于44～51外显子位置,即cDNA探针8所检测的位点。该结果经全长cDNA探针DNA印迹杂交证实,并与国外报道相近。表明这18对引物也适用于我国患者的基因诊断。mPCR具有简便、快速的优点。在数小时内即可对DMD/BMD基因的18个位点进行检测,从而简化了基因诊断的程序。

The majority of gene mutations in DMD/BMD are intragenic deletions. With 9 paris of primers the multiplex PCR can detect about 80% of the deletions identified by Southern blotting with cDNA probes. Recently additional 9 pairs of primers have been developed, Here we report the results of examination of 17 patients with DMD/BMD in Sichuan area. Using multiplex PCR with 18 pairs of primers 9 cases (53%) of dystrophin gene deletion have been found and one of them was found only when the additional 9 pairs of primers were used. These results are quite similar to those obtained from Caucesians and indicate that the primers used in present study are applicable to diagnosis of DMD/BMD patients in China.