PMID- 16360840 OWN - NLM STAT- MEDLINE DCOM- 20060510 LR - 20181203 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 66 IP - 9 DP - 2005 Sep TI - TAP1 and TAP2 gene polymorphisms and HLA-TAP haplotypes in Koreans based on 90 families. PG - 998-1007 AB - We have investigated the polymorphism of TAP genes and the distribution of human leukocyte antigen (HLA)-TAP haplotypes in 90 Korean families (180 parents and 233 children), previously typed for HLA class II alleles. TAP1 (codons 333 and 637) and TAP2 (codons 379, 565, 577, 651, 665, and 687) typings were carried out by use of polymerase chain reaction-restriction fragment length polymorphism method. For TAP1, four alleles (gene frequency: A 81.9%, B 15.0%, C 2.5%, D 0.5%) and for TAP2, nine alleles (A1 31.7%, A2 14.2%, B 32.5%, Bky2 6.1%, C 6.9%, D 2.5%, E 3.9%, G 0.8%, and H 1.4%) were detected. Sixteen different TAP1-TAP2 haplotypes were observed with frequencies > 0.5%, and we found that significant linkage disequilibrium was present between TAP1 and TAP2 loci (p < 0.001). When HLA-DRB1-DQB1 haplotypes were extended to TAP1 and TAP2 loci, much diversification of haplotypes was observed: 26 different DRB1-DQB1 haplotypes (frequencies > 0.8%) formed 90 different extended haplotypes. Eight recombinant haplotypes between DQB1 and DPB1 loci were observed, and most (seven of eight) of the recombinations occurred between TAP2 and DPB1 loci. These results add more evidence to the view that recombination hot spot is present within and around TAP gene region. FAU - Whang, Dong Hee AU - Whang DH AD - Department of Laboratory Medicine, Inje University College of Medicine, Seoul Paik Hospital, Seoul, Korea. FAU - Park, Hyejin AU - Park H FAU - Roh, Eun Youn AU - Roh EY FAU - Park, Myoung Hee AU - Park MH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20050816 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 2) RN - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 3) RN - 0 (ATP-Binding Cassette Transporters) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (Histocompatibility Antigens Class II) RN - 0 (TAP1 protein, human) RN - 145892-13-3 (TAP2 protein, human) SB - IM MH - ATP Binding Cassette Transporter, Subfamily B, Member 2 MH - ATP Binding Cassette Transporter, Subfamily B, Member 3 MH - ATP-Binding Cassette Transporters/*genetics MH - Gene Frequency MH - HLA-DQ Antigens/*genetics MH - HLA-DQ beta-Chains MH - HLA-DR Antigens MH - HLA-DRB1 Chains MH - Haplotypes MH - Histocompatibility Antigens Class II/*genetics MH - Korea/epidemiology MH - *Polymorphism, Genetic MH - Recombination, Genetic EDAT- 2005/12/20 09:00 MHDA- 2006/05/11 09:00 CRDT- 2005/12/20 09:00 PHST- 2005/05/06 00:00 [received] PHST- 2005/07/08 00:00 [revised] PHST- 2005/07/12 00:00 [accepted] PHST- 2005/12/20 09:00 [pubmed] PHST- 2006/05/11 09:00 [medline] PHST- 2005/12/20 09:00 [entrez] AID - S0198-8859(05)00128-X [pii] AID - 10.1016/j.humimm.2005.07.001 [doi] PST - ppublish SO - Hum Immunol. 2005 Sep;66(9):998-1007. doi: 10.1016/j.humimm.2005.07.001. Epub 2005 Aug 16.