RT Journal Article
SR Electronic
T1 Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 101
OP 104
DO 10.1136/jmg.27.2.101
VO 27
IS 2
A1 E D Kelly
A1 C A Graham
A1 A J Hill
A1 N C Nevin
YR 1990
UL http://jmg.bmj.com/content/27/2/101.abstract
AB 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.