title: Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease.
abstract: When a preovulatory oocyte reinitiates meiosis, it sheds a cytoplasmic fragment containing mitochondria and a redundant set of chromosomes. We have detected DNA sequences from both the mitochondrial and nuclear genomes in polar bodies from unfertilised human oocytes, demonstrating the feasibility of diagnosing mitochondrial diseases before conception.
authors.forename: D A
authors.initials: DA
authors.lastname: Briggs
authors.forename: N J
authors.initials: NJ
authors.lastname: Power
authors.forename: V
authors.initials: V
authors.lastname: Lamb
authors.forename: A J
authors.initials: AJ
authors.lastname: Rutherford
authors.forename: R G
authors.initials: RG
authors.lastname: Gosden
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000235:genetics*; D006801:Humans; D017240:Mitochondrial Myopathies / Q000175:diagnosis*; D009865:Oocytes; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases