Jongpiputvanich S, Norapucsunton T, Mutirangura A
Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.
J Med Assoc Thai. 1996 Dec;79 Suppl 1:S15-21.
We used multiplex PCR and a microsatellite or STR analysis for diagnosis and carrier detection in a DMD family. Two affected patients both demonstrated deletion of exon 51 by multiplex PCR. The microsatellite or STR analysis showed that the mother and all sisters except the eldest sister of the patients carried the disease allelle. Therefore, all of them except the eldest sister were carriers. We present the need to introduce the molecular techniques to improve a mode of diagnosis and management of DMD patients in the Thai community.
我们在一个杜氏肌营养不良（DMD）家族中使用多重聚合酶链反应（PCR）以及微卫星或短串联重复序列（STR）分析进行诊断和携带者检测。两名受影响的患者通过多重PCR均显示第51外显子缺失。微卫星或STR分析表明，患者的母亲以及除大姐之外的所有姐妹都携带致病等位基因。因此，除大姐外她们所有人都是携带者。我们提出有必要引入分子技术以改善泰国社区DMD患者的诊断和管理模式。
