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Colombia Médica

On-line version ISSN 1657-9534

Abstract

FONSECA, Dora; SILVA, Claudia Tamar  and  MATEUS, Heidi. Carrier detection of Duchenne muscular dystrophy in Colombian families by microsatellite analysis. Colomb. Med. [online]. 2008, vol.39, suppl.2, pp.07-13. ISSN 1657-9534.

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.

Keywords : Duchenne; Carrier; Diagnostic; Colombia; STR.

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