Key result
In a healthy UK Caucasoid population, TAP1A and TAP2A were the most frequent alleles (76% and 75%), and TAP2B was associated with DR1 (delta = 0.056, P < 0.01).
Cross-Sectional
The study establishes baseline allele frequencies for TAP1 and TAP2 genes in a UK Caucasoid population, identifies a novel TAP2H allele, and finds no extensive linkage disequilibrium between TAP genes and HLA-DQR.
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Baseline TAP allele frequencies in healthy UK Caucasoids warrant no clinical change; extends reference data for HLA-disease association studies.
The authors determined the allele frequencies of the TAP1 and TAP2 transporter genes in a healthy UK Caucasoid population by ARMS-PCR. TAP1A was the most frequent TAP1 allele by far, being present in 76% of subjects. TAP1 alleles could not be assigned in 24% of subjects, since the combinations TAP1A/1b and TAP1C/1D cannot be separated. TAP2A was the most frequent TAP2 alleles (75% of subjects) followed by TAP2B (43%), TAP2C (11%), TAP2D (8%) and TAP2E (6%). The authors also identified an individual with a previously undescribed TAP2 allele, TAP2H (isoleucine at amino acid [aa] 379, alanine at aa 565, alanine at aa 665). It was not possible to assign unequivocally TAP2 alleles in 15 individuals (9%) as TAP2A/D and TAP2C/E cannot be distinguished from each other. To address this problem a separate study of families of rheumatoid arthritis (RA) patients selected for this ambiguity were studied. In all five informative families, TAP2A/2D was confirmed as the combination present. In the population studied no evidence was found for linkage disequilibrium between TAP1 and TAP2 or between the TAP genes and HLA-DP. There was no evidence for extensive linkage disequilibrium between the TAP genes and HLA-DQR, although TAP2B was associated with DRI (delta = 0.056, corrected P < 0.01) and TAP2D with DR4 (delta = 0.018). In the RA families studied, TAP2D was found on DRB1*0401-bearing haplotypes.
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Donn et al. (1994) conducted a cross-sectional in Healthy individuals and rheumatoid arthritis. TAP1 and TAP2 alleles was evaluated on Allele frequencies and linkage disequilibrium. In a healthy UK Caucasoid population, TAP1A and TAP2A were the most frequent alleles (76% and 75%), and TAP2B was associated with DR1 (delta = 0.056, P < 0.01).
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