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 Oct;39(5):442-4. doi: 10.1111/j.1744-313X.2012.01110.x. Epub 2012 Apr 10.
Here, we report a novel human leucocyte antigen (HLA)-DRB1 allele, DRB103:77, discovered in a Taiwanese unrelated volunteer hematopoietic stem cell donor by a sequence-based typing (SBT) method. The DNA sequence of DRB103:77 is identical to the DNA sequence of DRB103:01:01 in exon 2 except one nucleotide at position 223 (G→C). The nucleotide substitution caused an amino acid replacement at residue 46 (E→Q). The formation of DRB103:77 was thought as the result of a nucleotide point mutation. The probable HLA-A, HLA-B and HLA-DRB1 haplotype in association with DRB103:77 may be deduced as A33-B58-DRB103:77. The donor was a Minna Taiwanese whose ancestors came from mainland China.
在这里，我们通过序列基分型（SBT）方法在一位台湾无关供体志愿者的造血干细胞中发现了一种新型人类白细胞抗原（HLA）-DRB1 等位基因 DRB103:77。DRB103:77 的 DNA 序列与外显子 2 中的 DRB103:01:01 的 DNA 序列完全相同，除了第 223 位的一个核苷酸（G→C）。核苷酸取代导致第 46 位残基（E→Q）的氨基酸替换。DRB103:77 的形成被认为是核苷酸点突变的结果。与 DRB103:77 相关联的可能 HLA-A、HLA-B 和 HLA-DRB1 单倍型可以推断为 A33-B58-DRB103:77。供体是一名来自中国大陆的台南 Minna 人。
