Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
A molecular linkage analysis in 11 families with X-linked agammaglobulinemia (XLA) localized the XLA gene to the proximal part of the long arm of the human X chromosome. Significant linkage was detected between XLA and loci defined by two polymorphic DNA probes called 19-2 for the DXS3 locus and S21 for the DXS17 locus. Both localize to the region Xq21.3-Xq22. Most likely recombination distances (theta) and associated logarithm of the odds (lod) scores for the XLA-DXS3 and XLA-DXS17 pairs were theta = 0.04 morgans (lod, 3.65) and theta = 0 (lod, 2.17), respectively. Tight linkage between XLA and the locus DXS43 defined by the X short arm probe D2 (localized to Xp22-Xp21) was strongly excluded and we obtained no evidence for significant linkage between XLA and any other X short arm probe. The probe pair 19-2 and S21 should be informative for molecular linkage-based analysis of XLA segregation in the majority of families afflicted with this disorder.
D000361:Agammaglobulinemia / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D014960:X Chromosome
D004274:DNA, Recombinant; D004247:DNA; D004262:DNA Restriction Enzymes