HLA新等位基因HLA-DRB1*0453的认定  

Identification of a novel HLA allele HLA-DRB1*0453

作　　者：张坤莲 李剑平 刘显智 章旭 陈阳 李晓丰 曲喆 高景波 

机构地区：[1]辽宁省血液中心,沈阳110044

出　　处：《中华微生物学和免疫学杂志》2007年第8期693-695,共3页Chinese Journal of Microbiology and Immunology

基　　金：辽宁省自然科学基金(20062127)

摘　　要：目的鉴定一个HLA-DRB1*04的新等位基因。方法从外周血中提取基因组DNA,应用PCR-SSO技术进行中低分辨率的HLA基因分型,PCR产物直接测序技术检测基因序列,通过软件和数据库中的同源等位基因进行序列比对,对先证者进行家系分析。结果样本HLA-DRBI位点的第2外显子序列与所有已知HLA-DRB1等位基因序列不同,该基因序列与同源性最高的等位基因DRB1*0447相比有3个碱基替代,在外显子2区域中的286位碱基发生了C→A替代,导致相应的67密码子由亮氨酸(L)→异亮氨酸(I),344和345位碱基发生了GT→TG替代,并导致相应的86密码子由甘氨酸(G)→缬氨酸(V)。家系分析结果显示,先证者的新等位基因HLA-DRB1*0453遗传自父亲。结论该等位基因是HLA-DRB1*04新的等位基因,被WHO HLA因子命名委员会正式命名为HLA- DRB1*0453。Objective To identify a new HLA - DRB 1 ＊ 0 4 allele in a Chinese donor. Methods Genomic DNA was extracted from peripheral blood. HLA genotyping with PCR-SSO assay and sequencing-based typing （SBT） was performed. The investigation of pedigree was performed for the new HLA allele. Results SBT results indicated that the novel DRB1 allele differed from the closest matching allele DRB1 ＊ 0447 by three nucleotide substitution in exon 2. At nt 286 C→A, resulting in an amino acid change from Leu （L） to fie （I） at codon 67, and nt 344-345 GT→TG, resulting in an amino acid change from Gly （G） to Val （V） at codon 86. The novel allele DRB1 ＊ 0453 of the preband was inherited from father. Conclusion A novel HLA allele was identified and officially designated as HLA-DRB1 ＊ 0453 by WHO Nomenclature Committee for Factors of the HLA system.

关 键 词：HLA-DRB1＊0453 新等位基因 基因分型 序列分析 

分 类 号：R392[医药卫生—免疫学]