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
ي En
| LILACS
| ID: lil-200307
المكتبة المسؤولة:
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
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الفهرس:
LILACS
الموضوع الرئيسي:
Polymorphism, Genetic
/
DNA
/
Genetic Markers
/
Dystrophin
/
Electrophoresis
/
Genetic Carrier Screening
/
Muscular Dystrophies
/
Nucleotides
نوع الدراسة:
Diagnostic_studies
/
Prognostic_studies
البلد/الأقليم حسب الموضوع:
Mexico
اللغة:
En
مجلة:
Arch. med. res
موضوع المجلة:
MEDICINA
السنة:
1996
نوع:
Article