Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.
Indian J Med Sci
; 2003 Jan; 57(1): 1-6
Article
Dans En
| IMSEAR
| ID: sea-66395
ABSTRACT
66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compared to familial cases. The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.
Texte intégral:
1
Indice:
IMSEAR
Sujet Principal:
Humains
/
Dystrophine
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Délétion de gène
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Myopathie de Duchenne
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Inde
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Indian J Med Sci
Année:
2003
Type:
Article