Lai P S, Tay J S, Low P S, Lee W L, Koh G A, Gan G C
Department of Paediatrics, National University of Singapore.
J Trop Pediatr. 1992 Oct;38(5):224-7. doi: 10.1093/tropej/38.5.224.
Twenty-three children suffering from Duchenne/Becker muscular dystrophy (DMD/BMD) in Singapore were analysed using the multiplex polymerase chain reaction (PCR) technique. Deletions were found in 14 cases. One rare case of total deletion of all nine exons was observed. This is the first DMD/BMD deletion analysis on South East Asian children. This technique for screening deletions was informative in 61 per cent of the local cases and would be useful for rapid diagnosis of deletion cases of DMD/BMD.
运用多重聚合酶链反应(PCR)技术对新加坡23名患有杜氏/贝克型肌营养不良症(DMD/BMD)的儿童进行了分析。在14例中发现了缺失情况。观察到1例罕见的所有9个外显子完全缺失的病例。这是对东南亚儿童进行的首次DMD/BMD缺失分析。这种用于筛查缺失的技术在61%的本地病例中提供了有用信息,将有助于快速诊断DMD/BMD的缺失病例。