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
Article
em En
| LILACS
| ID: lil-200307
Biblioteca responsável:
MX1.1
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
Buscar no Google
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Polimorfismo Genético
/
DNA
/
Marcadores Genéticos
/
Distrofina
/
Eletroforese
/
Triagem de Portadores Genéticos
/
Distrofias Musculares
/
Nucleotídeos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Arch. med. res
Ano de publicação:
1996
Tipo de documento:
Article