Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.

Jongpiputvanich, S; Norapucsunton, T; Mutirangura, A

Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.

Date

1996-12-01

Authors

Jongpiputvanich, S

Norapucsunton, T

Mutirangura, A

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.

Description

Chotmaihet Thangphaet.

Citation

Jongpiputvanich S, Norapucsunton T, Mutirangura A. Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis. Journal of the Medical Association of Thailand. 1996 Dec; 79 Suppl 1(): S15-21