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Carrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysis
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Fonseca-Mendoza, Dora Janeth
Silva C.T.
Mateus H.
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2008
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Abstract
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.
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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
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