Carrier detection of Duchenne muscular dystrophy in Colombian families by microsatellite analysis.
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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.
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.
- Duchenne
- Carrier
- Diagnostic
- Colombia
- STR
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
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