Detection of DMD gene deletions in Thai children patients.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 172-4
Article
Dans Anglais
| IMSEAR
| ID: sea-31794
ABSTRACT
For the dystrophin gene, it has been shown that about 65% of DMD/BMD patients have detectable deletions. The majority of deletions are clustered in exons 45-53 and at the 5' terminus. We studied 14 X-linked muscular dystrophy (DMD) Thai child patients for detection of gene deletions by amplification of nine exons plus the promoter of the dystrophin gene in two multiplex polymerase chain reactions that included hot spot region (exons 45-53 and 5' terminus). There were 8 DMD patients who had incomplete gene deletion and most of the deletions were around exon 49. PCR-base assays will allow deletion detection from dry blood spot samples and prenatal diagnosis.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Thaïlande
/
Chromosome X
/
Biopsie
/
Humains
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Enfant
/
Enfant d'âge préscolaire
/
Réaction de polymérisation en chaîne
/
Exons
Type d'étude:
Etude diagnostique
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Southeast Asian J Trop Med Public Health
Année:
1995
Type:
Article
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