title: Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families.
abstract: In order to improve carrier detection of Duchenne and Becker muscular dystrophy, dinucleotide 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.
authors.affiliation: Departamento de Genética y Biología Molecular, CINVESTAV-IPN, México, D.F.
authors.forename: D
authors.initials: D
authors.lastname: Arenas
authors.forename: R
authors.initials: R
authors.lastname: Coral
authors.forename: B
authors.initials: B
authors.lastname: Cisneros
authors.forename: L
authors.initials: L
authors.lastname: Peñaloza
authors.forename: F
authors.initials: F
authors.lastname: Salamanca
authors.forename: S
authors.initials: S
authors.lastname: Kofman
authors.forename: R
authors.initials: R
authors.lastname: Mercado
authors.forename: J
authors.initials: J
authors.lastname: Méndez
authors.forename: C
authors.initials: C
authors.lastname: Martínez
authors.forename: C
authors.initials: C
authors.lastname: Montañez
mesh_terms: D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008800:Mexico; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid