Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families
Por:
Arenas D., Coral R., Cisneros B., Penaloza L., Salamanca F., Kofman S., Mercado R., Mendez J., Martinez C., Montanez C.
Publicada:
1 ene 1996
Resumen:
In order to improve carrier detection of Duchenne and pecker 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.
Filiaciones:
Arenas D.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Coral R.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Cisneros B.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Penaloza L.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Salamanca F.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Kofman S.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Mercado R.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Mendez J.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Martinez C.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
Montanez C.:
Depto. Genetica y Biologia Molecular, CINVESTAV-IPN, Av. Inst. Politecnico Nacional 2508, Mexico, DF, Mexico
|