Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms: a study in Mexican families
Arch. med. res
;
27(2): 151-6, 1996. tab, ilus
Artículo
en Inglés
| LILACS
| ID: lil-200307
RESUMO
In order to improve carrier detection of Duchenne and Becker muscular dystrophy, denucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family
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Índice:
LILACS (Américas)
Asunto principal:
Polimorfismo Genético
/
ADN
/
Marcadores Genéticos
/
Distrofina
/
Electroforesis
/
Tamización de Portadores Genéticos
/
Distrofias Musculares
/
Nucleótidos
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
País/Región como asunto:
México
Idioma:
Inglés
Revista:
Arch. med. res
Asunto de la revista:
Medicina
Año:
1996
Tipo del documento:
Artículo
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