Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
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.
Kelly
E D
ED
Department of Medical Genetics, Queen's University of Belfast.
Graham
C A
CA
Hill
A J
AJ
Nevin
N C
NC
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