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Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis
E D Kelly1, C A Graham, A J Hill
1Department of Medical Genetics, Queen's University of Belfast.
Journal of Medical Genetics
|February 1, 1990
Abstract:
Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families. This enabled 78% of possible carriers to be assigned high or low risks (greater than 90% or less than 10%) as opposed to 26% assigned low risk on pedigree data alone. When a single polymorphism is not informative the use of haplotype analysis for carrier estimations is illustrated for one family.