HLA-Cw*0409N is associated with HLA-A*2301 and HLA-B*4403-carrying haplotypes

Hum Immunol. 2004 Feb;65(2):181-7. doi: 10.1016/j.humimm.2003.11.001.

Abstract

The associations of HLA-B*4402 and HLA-B*4403 with alleles of HLA-A and HLA-Cw were investigated in panels of HLA-B*4403 and HLA-B*4402 homozygous individuals and in selected individuals carrying HLA-Cw*04 and HLA-B*4403. Some of these individuals were genotyped and also carried (HLA-DRB1*0701, DQB1*02). Among the latter, we studied individuals carrying the conserved extended haplotype (CEH) [HLA-Cw*04, B*4403, FC31, DRB1*0701, DQB1*02]. Four different common (HLA-Cw*, B*44) haplotypes were identified that extended to the HLA-A locus: HLA-A*0201, Cw*0501, B*4402; HLA-A*2902, Cw*1601, B*4403; HLA-A*2301, Cw*0401, B*4403; and HLA-A*2301, Cw*0409N, B*4403. We identified eight unrelated examples of the allele HLA-Cw*0409N. HLA-A*2301 was associated with both HLA-Cw*0401 and HLA-Cw*0409N, suggesting that HLA-Cw*0409N may have arisen from a mutation in a CEH. We estimate that approximately 2 to 5 in 1000 Caucasian individuals carry the allele HLA-Cw*0409N, making it one of the most frequent null HLA alleles known to date. Our findings demonstrate the first example of three different HLA-Cw-determined subtypes of a common or CEH carrying a shared HLA-B allele, in this case HLA-B*4403.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Cell Line
  • Complement System Proteins / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA / isolation & purification
  • Gene Frequency / genetics
  • HLA-A Antigens / genetics*
  • HLA-B Antigens / genetics*
  • HLA-B44 Antigen
  • HLA-C Antigens / genetics*
  • Haplotypes / genetics*
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Leukocytes, Mononuclear / cytology
  • Leukocytes, Mononuclear / metabolism
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics
  • Sequence Analysis, DNA
  • United States
  • White People / genetics*

Substances

  • HLA-A Antigens
  • HLA-A*23:01 antigen
  • HLA-B Antigens
  • HLA-B*44:03 antigen
  • HLA-B44 Antigen
  • HLA-C Antigens
  • HLA-C*04:09N antigen
  • Histocompatibility Antigens Class I
  • Complement System Proteins
  • DNA