OBJECTIVETo investigate the molecular genetics basis for HLA novel allele HLA-A*3308 in Chinese population.

METHODSDNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-A exons 1-8 of the proband was preformed by PCR and the amplified product was cloned with TOPO cloning sequencing kit to split the two alleles apart. Both strands of exons 2, 3 and 4 of chosen clones were sequenced. The PCR-SSP was performed to confirm the mutations detected by sequencing.

RESULTSThe sequencing results showed HLA-A alleles of the proband as A*0201 and the novel allele. The sequences of the novel allele have been submitted to GenBank (DQ089631, DQ089632, DQ089633). BLAST analysis showed that the novel allele got the difference from A*3303 by five nucleotides at positions 240 A>T, 256C>G, 259A>G, 261C>G and 270T>A in exon 2. This resulted in three amino acids changes from Arg to Gly at codon 62, Asn to Glu at codon 63 and Asn to Lys at codon 66.

CONCLUSIONThis allele is a novel allele and has been officially named A*3308 by the WHO Nomenclature Committee.