title: Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male.
abstract: Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.
authors.affiliation: Division of Pathology, Prince of Wales Hospital, New South Wales, Australia.
authors.forename: J D
authors.initials: JD
authors.lastname: Chen
authors.forename: M J
authors.initials: MJ
authors.lastname: Denton
authors.forename: S
authors.initials: S
authors.lastname: Serravalle
authors.forename: G
authors.initials: G
authors.lastname: Morgan
mesh_terms: D000483:Alleles; D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000097:blood; D004247:DNA / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014960:X Chromosome
chemical_list: D004247:DNA; D003402:Creatine Kinase