title: A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
abstract: The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this polymorphism has been important in carrier status determination in a family with XLA where assessment was not possible by other means.
authors.affiliation: Division of Cell and Molecular Biology, Institute of Child Health, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Sweatman
authors.forename: R
authors.initials: R
authors.lastname: Lovering
authors.forename: H
authors.initials: H
authors.lastname: Middleton-Price
authors.forename: A
authors.initials: A
authors.lastname: Jones
authors.forename: G
authors.initials: G
authors.lastname: Morgan
authors.forename: R
authors.initials: R
authors.lastname: Levinsky
authors.forename: C
authors.initials: C
authors.lastname: Kinnon
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome