[一种新型人类白细胞抗原B*4609等位基因的鉴定]
[Identification of a novel allele human leukocyte antigen B*4609].
作者信息
Chen Yang, Li Jian-ping, Zhang Kun-lian, Zhang Xu, Liu Xian-zhi
机构信息
Liaoning Blood Center, Shenyang, Liaoning, 110044 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):459-61.
OBJECTIVE
To identify a novel human leukocyte antigen (HLA) allele.
METHODS
HLA typing was carried out with PCR-SSOP. Molecular cloning and DNA sequencing were used to identify the sequence of a potential novel allele and the difference between this new allele and other known alleles was analyzed.
RESULTS
HLA genotyping of one sample gave different results. The sequencing results showed that the HLA B alleles of the proband were B151101 and a novel allele. The nucleotide sequence of the novel allele was different from all other known B alleles. It had one nucleotide change from the closest matching allele B460101 at nucleotide 527 (A to T) in exon 3, resulting in an amino acid change from E (GAG) to V (GTG) at codon 176.
CONCLUSION
A novel HLA B allele was identified and officially designated as HLA B*4609 by WHO Nomenclature Committee for Factors of the HLA System in November, 2006.
目的
鉴定一种新的人类白细胞抗原（HLA）等位基因。
方法
采用聚合酶链反应-序列特异性寡核苷酸探针（PCR-SSOP）进行HLA分型。运用分子克隆和DNA测序来鉴定一个潜在新等位基因的序列，并分析该新等位基因与其他已知等位基因之间的差异。
结果
对一个样本进行HLA基因分型得到了不同的结果。测序结果显示，先证者的HLA B等位基因是B151101和一个新等位基因。该新等位基因的核苷酸序列与所有其他已知的B等位基因均不同。它在第3外显子的核苷酸527处与最匹配的等位基因B460101有一个核苷酸变化（A变为T），导致密码子176处的氨基酸从E（GAG）变为V（GTG）。
结论
鉴定出一种新的HLA B等位基因，并于2006年11月被世界卫生组织HLA系统因子命名委员会正式命名为HLA B*4609。
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