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Ataxia telangiectasia (A-T) is an inherited, recessive, cancer-prone disease with associated immunodeficiency and chromosome abnormalities involving TCR loci. The latter phenomena implicate errors of the enzyme(s) responsible for assembly of antigen receptor genes (recombinase) in disease pathogenesis. Here we report the location of a human recombination activating gene (RAG2), in addition to RAG1, on chromosome 11, band p13, thereby formally demonstrating linkage of these genes in humans and showing that they are not linked to the known locus responsible for the A-T syndrome.

Type

Journal article

Journal

Genes Chromosomes Cancer

Publication Date

11/1992

Volume

5

Pages

404 - 406

Keywords

Ataxia Telangiectasia, Chromosome Mapping, Chromosomes, Human, Pair 11, DNA Nucleotidyltransferases, Genes, Genetic Complementation Test, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Integrases, Precancerous Conditions, Recombinases