Main Article Content

Authors

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 short tandem 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.

Dora Fonseca, Universidad del Rosario

Profesora Principal, Unidad de Genética, Facultad de Medicina, Universidad del Rosario, Bogotá, Colombia.

Claudia Tamar Silva, Universidad del Rosario

Profesora Principal, Unidad de Genética, Facultad de Medicina, Universidad del Rosario, Bogotá, Colombia.

Heidi Mateus, Universidad del Rosario

Profesora Principal, Unidad de Genética, Facultad de Medicina, Universidad del Rosario, Bogotá, Colombia.
Fonseca, D., Silva, C. T., & Mateus, H. (2008). Carrier detection of Duchenne muscular dystrophy in Colombian families by microsatellite analysis. Colombia Medica, 39(2 Supl 2), 7–13. https://doi.org/10.25100/cm.v39i2 Supl 2.579

Downloads

Download data is not yet available.