title: Carrier detection for X-linked agammaglobulinaemia (Bruton type) in an Irish family using linked DNA probes.
abstract: Being an X-linked condition, the sisters of men with X-linked agammaglobulinaemia have a 50% risk of being carriers of the disease gene (provided the disease has not developed as a results of a new mutation). We demonstrate how this risk can be modified very significantly by DNA analysis using linked DNA probes. The value of such tests for genetic purposes is discussed.
authors.affiliation: I. Mothercare Department of Paediatric Genetics, Institute of Child Health, London.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: S
authors.initials: S
authors.lastname: Genet
authors.forename: H
authors.initials: H
authors.lastname: Middleton-Price
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
authors.forename: C
authors.initials: C
authors.lastname: Feighery
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007494:Ireland; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes