Abstract:

BACKGROUND: In recent years, with the development of molecular biology and the improvement of human leukocyte antigen typing technique, novel allele of human leukocyte antigen has been discovered constantly.
OBJECTIVE: To identify and confirm two novel human leukocyte antigen alleles
METHODS: The gene typing of human leukocyte antigen A, human leukocyte antigen B and DRB1 site was performed on two samples from the Chinese Bone Marrow Bank with the PCR-SBT, GSSP and single-stranded sequencing genotyping technology, then the DNA sequencing was performed on the new alleles, and the sequence alignment was conducted between the new alleles and the known allele with the highest homology.
RESULTS AND CONCLUSION: One of the sequences of two samples was different from the sequence of the allele of human leukocyte antigen A and human leukocyte antigen B. Sample 1 indicated that it differed from the closet matching allele A*11:01:01 in two nucleotide substitutions 193G>T and 194C>T in Exon2 that resulting in amino acid changed from Alanine (Ala) to Leucine (Leu) at codon 41, and sample 2 differed from the closet matching allele B*44:02 in one nucleotide substitution 300G>A in Exon2 that resulting in amino acid changed from Arginine (Arg) to Histidine (His) at codon 83. The novel alleles were identified as human leukocyte antigen A and human leukocyte antigen B and assigned the name of human leukocyte antigen A*11:97 and B*44:127 officially by the WHO Nomenclature Committee.