摘要
本研究旨在识别并确认中国人群中HLA-B位点的一个新等位基因。应用PCR-SBT对中华骨髓库供者样本进行HLA分型,对可能的HLA-B新等位基因利用组序列特异性引物(GSSP)及单链测序基因分型技术进行测序,并与已知同源性最高的等位基因进行序列比对,分析二者差异。结果发现,有1个样本的HLA-B位点与目前已知的HLA-B基因序列均不一致,与其同源性最高的B*40:06:01的差异表现在第2外显子272位碱基由C>T,导致第67位密码子由丝氨酸变为苯丙氨酸。结论:确认该基因为HLA-B位点的1个新等位基因,已经被WHO HLA因子命名委员会正式命名为HLA-B*40:162。
The aim of this study was to identify a novel HLA-B allele in Chinese population.The HLA typing of bone marrow donors was performed by PCR-SBT.The ambiguous novel HLA allele was confirmed with GSSP and single stranded SBT method.The result indicated that there was a sample,the sequence of which was different from all alleles in the HLA databases.The sequence analysis showed that it differed from the closet matching allele B ＊ 40∶06∶01 in one nucleotide substitution,272 C ＞ T in Exon 2,which resulted in an amino acid change from Serine （Ser） to Phenylalanine （Phe） at codon 63.It is concluded that the novel allele has been identified and is named HLA-B ＊ 40 ∶ 162 by the WHO Nomenclature Committee.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2014年第1期192-194,共3页
Journal of Experimental Hematology
基金
青岛市科技发展计划基金资助项目(10-3-3-1-9nsh)
