2022, Vol. 26 ›› Issue (30): 4857-4861

Sequence analysis and identification of a new allele HLA-DRB1*12:02:10

Wu Junhua, Wang Tianju, Wang Manni, Xu Hua, Qi Jun, Shang Lixia, Chen Le   

Abstract: BACKGROUND: The essence of the individual genetic differences of human leukocyte antigen (HLA) is the new alleles generated under various inducing factors at the level of genes encoding its antigen products, the frequency distribution in the population, and the blood type of the antigen. Serological testing and biological functions need to be further studied.
OBJECTIVE: The identification and sequence analysis of a new HLA allele HLA-DRB1*12:02:10.
METHODS: The polymerase chain reaction-sequence-based typing, single-strand sequencing, and nex-generation sequencing were used to identify the HLA-DRB1 non-matched transplant match samples. The control experiment was performed by polymerase chain reaction-sequence specific oligonucleotide probe.  
RESULTS AND CONCLUSION: (1) The HLA-DRB1 had T>G; a base mutation in Exon 3 at position 582, which caused the 194 codon of Exon 3 to be changed by CCT>CCG, which was a synonym mutation without any change of amino acid. (2) The new HLA-DRB1 allele was identified and named HLA-DRB1*12:02:10 by the World Health Organization HLA Factor Nomenclature Committee.
Key words: human leukocyte antigen, sequencing, novel allele, genealogical investigation, confirmed, naming