Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis. Issue 2 (February 1990)

• Record Type: Journal Article
• Authors: Kelly, E D; Graham, C A; Hill, A J; Nevin, N C
• Is Part Of: Journal of medical genetics. Volume 27:Issue 2(1990)
• Page Start: 101
• Page End: 104
• Publication Date: 1990-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.2.101
• Languages: English
• ISSNs: 1468-6244

Abstract

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.