title: Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families.
abstract: Although the accuracy in prenatal diagnosis and carrier detection with DNA probes in families with Duchenne and Becker's muscular dystrophies is very high, various factors limit the accuracy of these probes in many families. We report four potential pitfalls, ie, intragenic recombination, genetic heterogeneity, germline mosaicism, and an evolving genetic defect encountered in a population of Duchenne and Becker families, and describe a strategy to incorporate these factors into genetic counseling.
authors.affiliation: Department of Biology, Zhejiang Medical University, Hangzhou.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Shi
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
authors.forename: A
authors.initials: A
authors.lastname: Ritter
mesh_terms: D002872:Chromosome Deletion; D015342:DNA Probes; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D006801:Humans; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic
chemical_list: D015342:DNA Probes