Zou H-Y, Li Z, Deng Z-H
Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China.
Tissue Antigens. 2009 Jun;73(6):616-8. doi: 10.1111/j.1399-0039.2009.01250.x. Epub 2009 Apr 6.
The novel human leukocyte antigen (HLA)-Cw0348 allele was identified by sequence-based typing in a Chinese family. This allele shows that the sequences of exons 1-3 of HLA-Cw0348 are identical to those of HLA-Cw030401 except for a nucleotide substitution that changes CCG to CTG at codon 57, resulting in an amino acid change from Pro to Leu in the protein, and this is a unique nucleotide change among the HLA-C alleles, suggesting a point mutation mechanism. The extended haplotype carrying the new allele was deduced from the family group typing and defined as A110101, B1301, Cw0348, DRB10405, and DQB10402.
通过基于序列的分型在中国一个家系中鉴定出了新型人类白细胞抗原（HLA）-Cw0348等位基因。该等位基因显示，HLA-Cw0348外显子1-3的序列与HLA-Cw030401的序列相同，只是在密码子57处有一个核苷酸替换，将CCG变为CTG，导致蛋白质中的氨基酸从脯氨酸变为亮氨酸，并且这是HLA-C等位基因中独特的核苷酸变化，提示存在点突变机制。携带新等位基因的扩展单倍型是从家系分组分型中推导出来的，定义为A110101、B1301、Cw0348、DRB10405和DQB10402。
