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The CD45 (leucocyte common) antigen is a haemopoietic cell specific tyrosine phosphatase essential for antigen receptor signalling in lymphocytes, and expression of different CD45 isoforms is associated with distinct functions. Here we describe a novel polymorphism in exon 4 (A54G) of the gene encoding CD45 (PTPRC) that results in an amino acid substitution of Thr-19 to Ala in exon 4. The 54G allele was identified in African Ugandan populations and was found with a suggestive but not statistically significant increase in frequency amongst HIV-seropositive Ugandans. This suggests that the 54G variant and CD45 splicing abnormalities might be associated with HIV infection.

Original publication

DOI

10.1007/s00251-004-0668-z

Type

Journal article

Journal

Immunogenetics

Publication Date

05/2004

Volume

56

Pages

107 - 110

Keywords

Alternative Splicing, Amino Acid Substitution, Exons, Gene Frequency, Genetic Predisposition to Disease, HIV Infections, HIV Seropositivity, HIV-1, Humans, Leukocyte Common Antigens, Leukocytes, Mononuclear, Polymorphism, Genetic, Uganda