通过序列分型在中国个体中鉴定新型等位基因HLA-A*0131N。
Identification of the novel allele HLA-A*0131N by sequence-based typing in a Chinese individual.
作者信息
Liu N, An S-P, Li S-Y, Yan L-N, Yuan Y-H
机构信息
Graduate studies, Tianjin Medical University, Tianjin, China.
出版信息
Tissue Antigens. 2010 Aug;76(2):149-50. doi: 10.1111/j.1399-0039.2010.01482.x. Epub 2010 Apr 8.
Abstract
A novel human leukocyte antigen-A allele, officially named HLA-A0131N allele, was found in a potential Chinese bone marrow donor when direct sequence-based typing was carried out. The novel A0131N is identical to A*01010101 with an exception of one base substitution at position 178 (G>A) of exon 2 resulting in codon #60 changed from TGG (Trp) to TAG (stop codon).
摘要
在对一名潜在的中国骨髓供者进行基于直接测序的分型时，发现了一个新的人类白细胞抗原-A等位基因，正式命名为HLA-A0131N等位基因。新的A0131N与A*01010101相同，只是外显子2第178位（G>A）有一个碱基替换，导致第60密码子从TGG（色氨酸）变为TAG（终止密码子）。
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