title: Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
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.
authors.affiliation: Department of Medical Genetics, Queen's University of Belfast.
authors.forename: E D
authors.initials: ED
authors.lastname: Kelly
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
authors.forename: A J
authors.initials: AJ
authors.lastname: Hill
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D003201:Computers; D005260:Female; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics*; D009660:Northern Ireland; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012306:Risk