Carrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysis

Introduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. Objective: The aim of this investigation was to use the segregation analysis of STR loci to determine the carrie...

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Autores:
Tipo de recurso:
Fecha de publicación:
2008
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23724
Acceso en línea:
https://repository.urosario.edu.co/handle/10336/23724
Palabra clave:
Article
Colombia
Duchenne muscular dystrophy
Family study
Female
Gene locus
Gene segregation
Genetic counseling
Genetic linkage
Genetic susceptibility
Heterozygote
Human
Linkage analysis
Major clinical study
Male
Microsatellite marker
Short tandem repeat
Carrier
Colombia
Diagnostic
Duchenne
Str
Rights
License
Abierto (Texto Completo)
Description
Summary:Introduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. Objective: The aim of this investigation was to use the segregation analysis of STR loci to determine the carrier status in 37 families with DMD/DMB. Methods: From 37 families 174 individuals were studied through segregation of 10 intra and extragenic shorttandem repeats (STR) in the members of the family. Results: The carrier status of 89.2% women of the tested group could be assigned by linkage analysis, 65.7% carriers and 23.5% non-carriers Conclusions: Linkage analysis was proven to be a powerful tool for the carrier detection in DMD/BMD and should be taken into account in genetic counselling practice. © 2008 Corporación Editora Médica del Valle.