PMID- 16216675 OWN - NLM STAT- MEDLINE DCOM- 20060117 LR - 20111117 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 66 IP - 8 DP - 2005 Aug TI - HLA-DQA1 introns 2 and 3 sequencing: DQA1 sequencing-based typing and characterization of a highly polymorphic microsatellite at intron 3 of DQA1*0505. PG - 903-11 AB - DQA1 class II gene encodes the alpha-chain of the human leukocyte antigen (HLA)-DQ heterodimer. Sequencing-based typing (SBT) for HLA genes is the most powerful methodology described. However, most of the SBT procedures reported for HLA class II genes are not able to define complete exon 2 region. For that purpose, we have characterized introns 2 and 3 from most DQA1 alleles to design amplification procedures that were able to obtain complete exon 2 and 3 sequences from DQA1 genes. This coding information allowed us to reduce the number of ambiguities for DQA1 typing. DQA1 intron 2 and 3 characterization demonstrated the presence of two polymorphisms for alleles with the same exons 2 and 3 sequence from DQA1*05 group. Different samples including the DQA1*050101 alleles showed a single nucleotide polymorphism at position 53 of intron 2 (G53T). Additional haplotypic analysis showed the possible association of T53 allele with the Ax-Cw5-B18-DR17-DQ2 extended haplotype. On the other hand, DQA1*0505 sequencing from different control samples noticed the existence of a microsatellite (TTTC/AAAG)n located at position 126 of intron 3. Fragment length analysis demonstrated a high polymorphism for this short tandem repeat system (0505STR), defining alleles that ranged from 8 to 20 repetitions in our population. FAU - Balas, Antonio AU - Balas A AD - Histocompatibility and Molecular Biology Department. Regional Transfusion Centre of Madrid, Madrid, Spain. FAU - Aviles, Maria J AU - Aviles MJ FAU - Alonso-Nieto, Manuela AU - Alonso-Nieto M FAU - Zarapuz, Loreto AU - Zarapuz L FAU - Blanco, Lydia AU - Blanco L FAU - Garcia-Sanchez, Felix AU - Garcia-Sanchez F FAU - Vicario, Jose L AU - Vicario JL LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20050725 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ alpha-Chains) RN - 0 (HLA-DQA1 antigen) SB - IM MH - Base Sequence MH - Exons MH - HLA-DQ Antigens/*genetics MH - HLA-DQ alpha-Chains MH - Humans MH - Introns/*genetics MH - *Microsatellite Repeats MH - Molecular Sequence Data MH - *Polymorphism, Genetic MH - Sequence Analysis, DNA EDAT- 2005/10/12 09:00 MHDA- 2006/01/18 09:00 CRDT- 2005/10/12 09:00 PHST- 2005/03/03 00:00 [received] PHST- 2005/10/12 09:00 [pubmed] PHST- 2006/01/18 09:00 [medline] PHST- 2005/10/12 09:00 [entrez] AID - S0198-8859(05)00117-5 [pii] AID - 10.1016/j.humimm.2005.06.003 [doi] PST - ppublish SO - Hum Immunol. 2005 Aug;66(8):903-11. doi: 10.1016/j.humimm.2005.06.003. Epub 2005 Jul 25.