Abstract
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.
MeSH Terms
Agammaglobulinemia/genetics
Chromosome Mapping
DNA/genetics
DNA Restriction Enzymes
DNA, Recombinant
Humans
Nucleic Acid Hybridization
Polymorphism, Genetic
Recombination, Genetic
X Chromosome
Chemicals
DNA, Recombinant
DNA
DNA Restriction Enzymes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kwan S P
Kunkel L
Bruns G
Wedgwood R J
Latt S
Rosen F S
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