HLA新等位基因A*33:44序列分析

摘要

Objective To analyze the sequence of a novel human leukocyte antigen (HLA)-A * 33:44 allele.Methods A novel HLA-A allele was found by double-stranded sequencing combined with singlestranded sequencing.The frequency of the novel allele was determined by population survey.Results Genomic sequence of this novel HLA-A * 33:44 allele (accession No.HQ873871) has differed from HLA-B * 33:03:01 by one nucleotide in exon 4,which resulted in nt 866 G→A substitution,which results in an amino acid substitution from Gly(GGT) to Asp(GAT) at codon 265.This alternation is a new single nucleotide polymorphism compared with other HLA-A alleles.The frequency of this new allele is less than 0.0003 in Chinese Han population.Conclusion A mutation has been found in exon 4 of the novel HLA-A *33:44 allele,which may provide more information for HLA gene study.%目的 鉴定1例人类白细胞抗原(human leukocyte antigen,HLA)新等位基因.方法 应用双链及单链测序法进行基于序列的分型(sequence based typing,SBT),通过群体调查了解该等位基因的群体分布频率.结果 该等位基因HLA-A* 33:44,与A*33:03:01第4外显子相差1个核苷酸,使第866位碱基由G变为A,第265个密码子由GGT变为GAT,相应氨基酸由甘氨酸变为天门冬氨酸.与IMGT/HLA数据库中的HLA-A等位基因的序列进行对比,该突变为新的单核苷酸多态性位点.结论 该新HLA等位基因在中国汉族人群中的分布频率小于0.0003,并被世界卫生组织HLA因子命名委员会命名为HLA-A* 33:44(序列注册号为HQ873871).研究新等位基因的序列可为HLA基因相关研究和应用提供信息.