title: Carrier detection in X-linked immunodeficiencies. I: A PCR-based X chromosome inactivation assay at the MAOA locus.
abstract: We developed an X chromosome inactivation PCR assay, based on differential methylation of the 5' CpG island of the monoamine oxidase A gene (MAOA), close to a highly polymorphic region just downstream of the first exon. The assay provides a method to determine the carrier status of females from pedigrees with X-linked immunodeficiency diseases (XLID).
authors.affiliation: Department of Biochemistry, University of Oxford, UK.
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: H
authors.initials: H
authors.lastname: Hinds
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D002874:Chromosome Mapping; D015226:Dinucleoside Phosphates / Q000737:chemistry / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D008745:Methylation; D008995:Monoamine Oxidase / Q000235:genetics; D016133:Polymerase Chain Reaction; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics; D014960:X Chromosome
chemical_list: D015226:Dinucleoside Phosphates; D008995:Monoamine Oxidase; C015772:CpG dinucleotide