A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families.
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.
Kwan
S P
SP
Department of Immunology, Rush Medical School, Chicago, Illinois 60612.
Walker
A P
AP
Hagemann
T
T
Gupta
S
S
Vayuvegula
B
B
Ochs
H D
HD
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
D005819:Genetic Markers