Laboratory of Immunogenetics and Cord Blood Bank, Buddhist Tzu Chi Stem Cells Centre and Marrow Donor Registry, Buddhist Tzu Chi General Hospital, Buddhist Compassion Relief Tzu Chi Foundation, Hualien, Taiwan.
Int J Immunogenet. 2012 Dec;39(6):527-9. doi: 10.1111/j.1744-313X.2012.01133.x. Epub 2012 Jun 7.
We detected a rare HLA-B locus allele, B40:97, in a Taiwanese unrelated donor in our routine HLA SBT (sequence-based typing) exercise for a possible hematopoietic stem cell donation. In exons 2, 3 and 4, the sequence of B40:97 is identical to the sequence of B40:02:01 except one nucleotide at nucleotide position 760 (C->T) in exon 4. The nucleotide variation caused one amino acid alteration at residue 230 (L->F). B40:97 was probably derived from a nucleotide substitution event where C was replaced by T at nucleotide 760 involving B40:02:01. The HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 haplotype in association with B40:97 may be deduced as A26:01-B40:97-C03:03-DRB111:01-DQB103:03. Our recognition of B40:97 in Taiwanese helps to fill the void of ethnic information for the allele B*40:97 reported to the IMGT/HLA Database.
我们在常规 HLA SBT（基于序列的分型）检测中发现了一个罕见的 HLA-B 基因座等位基因 B40:97，来自一位台湾非亲缘供者，可能用于造血干细胞捐献。在第 2、3 和 4 外显子中，B40:97 的序列与 B40:02:01 相同，除了第 4 外显子中核苷酸位置 760 的一个核苷酸（C->T）。核苷酸变异导致第 230 位残基（L->F）的一个氨基酸改变。B40:97 可能源自核苷酸取代事件，其中 C 被 T 取代，涉及 B40:02:01。与 B40:97 相关的 HLA-A、HLA-B、HLA-C、HLA-DRB1 和 HLA-DQB1 单倍型可以推断为 A26:01-B40:97-C03:03-DRB111:01-DQB103:03。我们在台湾发现 B40:97，有助于填补该等位基因 B*40:97 在 IMGT/HLA 数据库中的种族信息空白。
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