title: Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum.
abstract: The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.
authors.affiliation: Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands.
authors.forename: S D
authors.initials: SD
authors.lastname: Wilton
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000328:Adult; D001483:Base Sequence; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D006801:Humans; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D010063:Ovum / Q000473:pathology*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D016189:Dystrophin