Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.
Article
Dans Anglais
| IMSEAR
| ID: sea-39553
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pedigree
/
Femelle
/
Humains
/
Mâle
/
Enfant
/
Réaction de polymérisation en chaîne
/
Dystrophine
/
Adolescent
/
Délétion de gène
/
Répétitions microsatellites
Type d'étude:
Etude diagnostique
langue:
Anglais
Année:
1996
Type:
Article
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