新等位基因HLA-A~＊11：97与HLA-B~＊44：127的确认

Identification of novel human leukocyte antigen alleles： A~＊11：97 and B~＊44：127

背景:近几年来,随着分子生物学的发展及人类白细胞抗原分型技术的提高,人类白细胞抗原新等位基因不断被发现。目的:识别并确认两个新的人类白细胞抗原等位基因。方法:应用PCR-SBT、GSSP及单链测序基因分型技术对两份中华骨髓库供者样本进行人类白细胞抗原A,B,DRB1位点进行基因分型,对新等位基因进行DNA测序并与已知同源性最高的等位基因型进行序列比对。结果与结论:两个样本各有一个位点与目前已知的相应人类白细胞抗原A、B等位基因序列均不一致,样本1与其同源性最高的A*11:01:01的差异表现在第2外显子区域中的193G>T,194C>T,导致第41位密码子由丙氨酸变为亮氨酸,样本2与其同源性最高的B*44:02比较差异表现在第2外显子区域中第320位碱基由G>A,导致编码的第83位密码子由精氨酸变为组氨酸。说明两个样本分别为人类白细胞抗原A和B位点的新等位基因,并已被WHO人类白细胞抗原因子命名委员会正式命名为人类白细胞抗原A*11:97和B*44:127。

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 193GT and 194CT 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 300GA 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.