RESUMEN
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.
Asunto(s)
Adolescente , Adulto , Niño , Distrofina/genética , Femenino , Eliminación de Gen , Tamización de Portadores Genéticos/métodos , Humanos , Ligamiento Genético , Masculino , Repeticiones de Microsatélite , Distrofias Musculares/diagnóstico , Linaje , Reacción en Cadena de la Polimerasa/métodosRESUMEN
We have demonstrated the usefulness of the multiplex PCR to directly detect the dystrophin gene mutation. Prenatal diagnosis and confirmation of clinical diagnosis of DMD/BMD via non invasive technique are now possible. Nine DMD and one BMD patients were tested. Five DMD patients demonstrated deletion. Thus, this multiplex PCR could detect deletion in approximately 50 per cent of DMD/BMD Thai patients. Eighty per cent of the deletions were in the distal part, whereas, 20 per cent were in the proximal part. We are planning to establish other molecular techniques such as linkage analysis, cDNA hybridization and immunostaining of dystrophin protein to improve a mode of diagnosis and management of DMD/BMD patients in the Thai community.