PMID- 20492592 OWN - NLM STAT- MEDLINE DCOM- 20101203 LR - 20221207 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 76 IP - 3 DP - 2010 Sep TI - The association and differentiation of MHC class I polymorphic Alu insertions and HLA-B/Cw alleles in seven Chinese populations. PG - 194-207 LID - 10.1111/j.1399-0039.2010.01499.x [doi] AB - We investigated polymorphic Alu insertion (POALIN) frequencies at five loci in the major histocompatibility complex (MHC) class I genomic region to determine their allele and haplotype frequencies and associations with the human leukocyte antigen (HLA)-B and -Cw genes in seven different Chinese ethnic populations, the Han, Bulang, Wa, Dai, Maonan, Hani and Jinuo. The POALINs varied in frequency between 0% and 42.3% with significant differences between populations at all of the loci. Each POALIN was in significant linkage disequilibrium with a variety of HLA-B or -Cw four-digit alleles. The percentage association between Alu insertions and the HLA-B or -Cw alleles was calculated in pairwise analyses of haplotypes to show possible crossing over events between loci. The POALIN insertions also helped to further stratify the HLA-B:-Cw haplotypes into different POALIN:HLA-B:HLA-Cw haplotype frequencies. Of the two-locus, five-locus and seven-locus haplotype analyses, the seven-locus haplotypes showed the largest number of differences between the populations. The most common multilocus haplotype in Han was MICB*1:B*4601:Cw*0102:TF*1:HJ*1:HG*2:HF*1 (15.6%) associated with the AluHG insertion, whereas the second most common multilocus haplotype in Han was MICB*1:B*1502:Cw*0801:TF*1:HJ*2:HG*1:HF*1 (11.8%) associated with the AluHJ insertion. This comparative study of multilocus POALINs in the HLA class I region of seven Chinese ethnic populations shows that POALINs alone or together with the HLA class I alleles are informative genetic markers for the identification of HLA class I allele and haplotype lineages and variations such as crossing over events within the same and/or different populations. FAU - Yao, Y AU - Yao Y AD - Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, China. FAU - Shi, L AU - Shi L FAU - Shi, L AU - Shi L FAU - Kulski, J K AU - Kulski JK FAU - Chen, J AU - Chen J FAU - Liu, S AU - Liu S FAU - Yu, L AU - Yu L FAU - Lin, K AU - Lin K FAU - Huang, X AU - Huang X FAU - Tao, Y AU - Tao Y FAU - Tokunaga, K AU - Tokunaga K FAU - Chu, J AU - Chu J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-B Antigens) RN - 0 (HLA-C Antigens) RN - 0 (Histocompatibility Antigens Class I) SB - IM MH - Alleles MH - Alu Elements/*genetics MH - Asian People/*genetics MH - Ethnicity/genetics MH - *Genetics, Population MH - HLA-B Antigens/*genetics MH - HLA-C Antigens/*genetics MH - Haplotypes MH - Histocompatibility Antigens Class I/*genetics MH - Humans MH - Phylogeny MH - Polymorphism, Genetic/*genetics EDAT- 2010/05/25 06:00 MHDA- 2010/12/14 06:00 CRDT- 2010/05/25 06:00 PHST- 2010/05/25 06:00 [entrez] PHST- 2010/05/25 06:00 [pubmed] PHST- 2010/12/14 06:00 [medline] AID - TAN1499 [pii] AID - 10.1111/j.1399-0039.2010.01499.x [doi] PST - ppublish SO - Tissue Antigens. 2010 Sep;76(3):194-207. doi: 10.1111/j.1399-0039.2010.01499.x.