Six newly identified HLA‐DRB alleles: DRB1*1121, *1419, *1420, *1421, DRB3*0203 and DRB5*0103

Abstract

Seven samples with irregular PCR-SSO hybridization patterns, observed during routine HLA-DRB typing, were studied in more detail. Group-specific amplification, followed by hybridization with relevant SSOs strengthened the suggestion that these samples contained new DRB alleles. DRB exon 2 segments were amplified, cloned and sequenced and revealed: DRB1*1121 [MUL] is similar to DRB1*1102 in which codon 85 changed from GTT(V) into GTC(A); DRB1*1419 [AKKAL] is similar to DRB1*1402 with codon 71 changed from AGG(R) into AAG(K); DRB1*1420 [OND-52971] is a DRB1*1406 with codon 37 changed from AAC(N) into TTC(F); DRB1*1421 [TGI] is similar to DRB1*1417 with codon 71 changed from AGG(R) into AAG(K); DRB3*0203 [POS] is similar to DRB3*0202 in which codons 37-38 are changed from TAC GCG(YA) into TCC GTC(SV); DRB5*0103 was found in two unrelated individuals of Oriental origin [IND-24 and IND-59] and is similar to DRB5*0102 in which codon 71 AGG(R) changed into ACG(T). This particular sequence variation at position 71 has not yet been described. The new DRB sequences were confirmed using the sequencing based typing technique. Low resolution PCR-SSP typing failed to amplify two of the DRB1*14 variants, whereas high resolution PCR-SSP resulted in aberrant patterns. Class II alloantisera identify the codon 71 changes in DRB1*1419 and *1421 with respect to the MC1 ('DR1+DR4') epitope.

Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms

“…For the trio control cohort, full HLA-DQA1 and -DQB1 typing was available for the child and both parents in 34 trios and for the child and one of the parents in 51 trios, and for one trio only one person could be SNP typed leading to a total of 205 persons available for analyses. For the blood bank control cohort, full (four digit) HLA-DRB1, -DQA1 and -DQB1 typing was performed by PCR-SSCP using locally produced and slightly modified primer mixes [28]. The typing of this cohort was performed in the European Foundation of Immunogenetics (EFI)-accredited HLA laboratory of the Department of IHB, LUMC, Leiden.…”