title: A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families.
abstract: X-linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre-B cells to develop into mature circulating B cells, due to a defective B-cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2.5 years of age, the non-affected phenotype of the child was confirmed.
authors.affiliation: Department of Immunology, Rush Medical School, Chicago, Illinois 60612.
authors.forename: S P
authors.initials: SP
authors.lastname: Kwan
authors.forename: A P
authors.initials: AP
authors.lastname: Walker
authors.forename: T
authors.initials: T
authors.lastname: Hagemann
authors.forename: S
authors.initials: S
authors.lastname: Gupta
authors.forename: B
authors.initials: B
authors.lastname: Vayuvegula
authors.forename: H D
authors.initials: HD
authors.lastname: Ochs
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D001402:B-Lymphocytes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D018655:Lymphocyte Count; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D005819:Genetic Markers