CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans

被引:9
作者
Stanton, T
Boxall, S
Bennett, A
Kaleebu, P
Watera, C
Whitworth, J
French, N
Dawes, R
Hill, AVS
Bodmer, W
Beverley, PCL
Tchilian, EZ [1 ]
机构
[1] Edward Jenner Inst Vaccine Res, Compton RG20 7NN, Berks, England
[2] John Radcliffe Hosp, Canc & Immunogenet Lab, Weatherall Inst Mol Med, Cancer Res UK, Oxford OX3 9DU, England
[3] Uganda Virus Res Inst, MRC Programme AIDS Uganda, Entebbe, Uganda
[4] Univ Liverpool, Liverpool Sch Trop Med, Liverpool L3 5QA, Merseyside, England
[5] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
关键词
CD45; HIV; alternative splicing; polymorphisms; Ugandan;
D O I
10.1007/s00251-004-0668-z
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:107 / 110
页数:4
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