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 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.

• 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
• License: Abierto (Texto Completo)