Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.
作者信息
Jongpiputvanich S, Norapucsunton T, Mutirangura A
机构信息
Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.
出版信息
J Med Assoc Thai. 1996 Dec;79 Suppl 1:S15-21.
PMID:9071063
Abstract
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.
摘要
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