Low occurrence of the HLA-C04:09N allele in a large Hungarian cohort

• Published in: Tissue antigens Vol. 86; no. 1; pp. 32 - 35
• Main Authors: Bors, A., Inotai, D., Andrikovics, H., Benkő, S., Boros-Major, A., Illés, Z., Szilvási, A., Gelle-Hossó, A., Rajczy, K., Tordai, A.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2015
• Subjects: Alleles; Bone Marrow Transplantation; common haplotype; Gene Expression; Gene Frequency; Haplotypes; Histocompatibility Testing; HLA-C Antigens - genetics; HLA-C Antigens - immunology; HLA-C04:09N; HLA-typing; Humans; Hungarian population; Hungary; null-allele; Tissue Donors; Transplant Recipients; Hungary; HLA-typing; common haplotype; HLA-C04:09N; null-allele; Hungarian population
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1111/tan.12587

The presence of null alleles may affect the outcome of stem cell transplantation. HLA‐C*04:09N was defined as ‘common’ with a frequency of 2–5/1000 in Caucasians, and its presence is routinely tested as part of haplotypes HLA‐A*02:01/A*23:01‐B*44:03‐DRB1*07:01‐DQB1*02:01. We aimed to investigate HLA‐C*04:09N in a representative Hungarian cohort. HLA‐typing data of 7345 unrelated persons were analyzed. The presence of HLA‐C*04:09N was excluded in 157 chromosomes with either serology typing or with an allele‐specific polymerase chain reaction for HLA‐C*04:09N. HLA‐C*04:09N was identified in a single chromosome with HLA‐A*02, B*44, C*04, DRB1*07 resulting in a HLA‐C*04:09N allele frequency of 0.0068% (1/14,690). This is approximately a 10‐ to 40‐fold lower frequency compared with the previous data. Our results emphasize the need of precise local population‐specific HLA‐data, allowing appropriate modifications of local HLA‐typing protocols.