Nie Xiang-Min, Zhang Yi, Zhuang Yun-Long, Song Yong-Hong, Qiao Wen-Ben, Liu Yan, Zhu Chuan-Fu
HLA Typing Laboratory of China Marrow Donor Program, Blood Center of Shandong Province, Jinan 250014, Shandong Province, China.
HLA Typing Laboratory of China Marrow Donor Program, Blood Center of Shandong Province, Jinan 250014, Shandong Province, China. E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2014 Apr;22(2):509-12. doi: 10.7534/j.issn.1009-2137.2014.02.044.
This study was aimed to identify a novel HLA-DRB1 allele from a Chinese potential hemopoietic stem cell donor of Northeast China. A rare HLA-DRB1 allele was initially detected by Luminex PCR-SSO typing, then the sample was sequenced by sequence-based typing (SBT) and the alignments of sample's alleles was identified by single allele-specific sequencing strategy. The results revealed the existence of a new allele which differs from the closest matching allele DRB103:06 by a single nucleotide substitution at position 239, where C→G in exon 2, resulting in an amino acid exchange from Thr to Arg at codon 51. It is concluded that a novel allele has been confirmed and its name DRB103:80 is officially assigned by the WHO Nomenclature Committee in February 2012.
本研究旨在从一名中国东北潜在造血干细胞供者中鉴定出一个新的HLA-DRB1等位基因。通过Luminex PCR-SSO分型最初检测到一个罕见的HLA-DRB1等位基因，随后采用序列特异性分型（SBT）对样本进行测序，并通过单等位基因特异性测序策略鉴定样本等位基因的比对情况。结果显示存在一个新等位基因，它与最匹配的等位基因DRB103:06在第239位存在单核苷酸替换，即外显子2中的C→G，导致密码子51处的氨基酸从苏氨酸变为精氨酸。结论是已确认一个新等位基因，其名称DRB103:80于2012年2月被世界卫生组织命名委员会正式指定。
