Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
other · Level V
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- Record sourced from PubMed, PMID 1969486.
- Also identified by PMC identifier 1016929.
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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.
Medical subject headings
- Genetic Carrier Screening
- Muscular Dystrophies