title: Carrier detection in X-linked immunodeficiencies. II: An X inactivation assay based on differential methylation of a line-1 repeat at the DXS255 locus.
abstract: The differential methylation of a CpG island 2.5 kb distant from a hypervariable region at the DXS255 locus provides the basis for a Southern blotting X chromosome inactivation analysis system. The technique enables carrier detection in about 90% of females at risk from pedigrees with Wiskott-Aldrich syndrome, X-linked severe combined immunodeficiency or X-linked agammaglobulinemia.
authors.affiliation: Department of Biochemistry, University of Oxford, UK.
authors.forename: H
authors.initials: H
authors.lastname: Hinds
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D002874:Chromosome Mapping; D015226:Dinucleoside Phosphates / Q000737:chemistry / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D008745:Methylation; D012091:Repetitive Sequences, Nucleic Acid; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics; D014960:X Chromosome
chemical_list: D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide