PMID- 20403137
OWN - NLM
STAT- MEDLINE
DCOM- 20101124
LR  - 20221207
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 76
IP  - 1
DP  - 2010 Jul
TI  - Polymorphic major histocompatibility complex class II Alu insertions at five loci 
      and their association with HLA-DRB1 and -DQB1 in Japanese and Caucasians.
PG  - 35-47
LID - 10.1111/j.1399-0039.2010.01465.x [doi]
AB  - We investigated polymorphic Alu insertion (POALIN) frequencies at five loci in 
      the major histocompatibility complex (MHC) class II genomic region to determine 
      their allele and haplotype frequencies and associations with the human leukocyte 
      antigen (HLA)-DRB1 and -DQB1 genes for 100 Japanese, 174 Australian Caucasians 
      and 67 HLA reference cell lines obtained from different ethnic groups. The 
      POALINs varied in frequency between 11% and 57% with significant differences 
      between the Japanese and Caucasians at three loci. One POALIN locus deviated 
      significantly from Hardy-Weinberg equilibrium (HWE) and four POALIN loci were in 
      significant linkage disequilibrium and had a high percentage association with a 
      variety of HLA-DRB1 or -DQB1 two-digit alleles. Inferred haplotype analysis among 
      two-locus, five-locus and seven-locus haplotype structures showed maximum 
      differences between the Japanese and Caucasians with the seven-locus haplotypes. 
      The most common multilocus haplotype in Caucasians was 
      DRB1*1501/DQB1*0602/AluDQ1/AluDRB1/AluORF10/AluDPB2 (6.7%), whereas the second 
      most common allele HLA-DRB1*15 (17.5%) in Japanese was associated with three or 
      four Alu insertions. The HLA class II POALINs also differentiated within and 
      between HLA-DRB1 super-haplotypes DR1, DR8, DR51, DR52 and DR53. This is the 
      first comparative population study of multilocus POALINs in the HLA class II 
      region, which shows that POALINs whether investigated alone or together with the 
      HLA class II alleles are informative genetic markers for the identification of 
      allele and haplotype lineages and variations within the same and/or different 
      populations.
FAU - Kulski, J K
AU  - Kulski JK
AD  - Centre for Forensic Science, The University of Western Australia, Nedlands, WA, 
      Australia. jkulski@me.com
FAU - Shigenari, A
AU  - Shigenari A
FAU - Shiina, T
AU  - Shiina T
FAU - Inoko, H
AU  - Inoko H
LA  - eng
PT  - Journal Article
DEP - 20100406
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
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 (Membrane Glycoproteins)
SB  - IM
MH  - Alu Elements/*genetics
MH  - Asian People/*genetics
MH  - Cell Line
MH  - Evolution, Molecular
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics/immunology
MH  - HLA-DRB1 Chains
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Humans
MH  - Membrane Glycoproteins/*genetics
MH  - Mutagenesis, Insertional
MH  - *Polymorphism, Genetic
MH  - White People/*genetics
EDAT- 2010/04/21 06:00
MHDA- 2010/12/14 06:00
CRDT- 2010/04/21 06:00
PHST- 2010/04/21 06:00 [entrez]
PHST- 2010/04/21 06:00 [pubmed]
PHST- 2010/12/14 06:00 [medline]
AID - TAN1465 [pii]
AID - 10.1111/j.1399-0039.2010.01465.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2010 Jul;76(1):35-47. doi: 10.1111/j.1399-0039.2010.01465.x. 
      Epub 2010 Apr 6.