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
in English
| 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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Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
DNA
/
Genetic Markers
/
Dystrophin
/
Electrophoresis
/
Genetic Carrier Screening
/
Muscular Dystrophies
/
Nucleotides
Type of study:
Diagnostic study
/
Prognostic study
Country/Region as subject:
Mexico
Language:
English
Journal:
Arch. med. res
Journal subject:
Medicine
Year:
1996
Type:
Article
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