Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis

J Med Genet. 1990 Feb;27(2):101-4. doi: 10.1136/jmg.27.2.101.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computers
  • Female
  • Genetic Carrier Screening*
  • Haplotypes
  • Humans
  • Male
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Northern Ireland
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Risk