[通过基于测序的分型鉴定一种新型 HLA 等位基因 B 4446]
[Identification of a novel HLA allele B 4446 by sequencing-based typing].
作者信息
Li Jian-ping, Zhang Xu, Li Xiao-feng, Qu Zhe, Gao Jing-bo, Huang Xu-ying, 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. 2007 Oct;24(5):518-9.
OBJECTIVE
To identify a novel HLA allele in Chinese population.
METHODS
A new HLA-B allele was initially detected by an usual PCR-SSP and PCR-SSOP in routine typing HLA allele. Sequence-based typing (SBT) was used to identify and analysis the difference between the new allele and HLA-B 4409 allele.
RESULTS
The HLA-B exon 3 nucleotide sequence of the novel allele was different from all other known alleles. The allele had 3 nucleotides replaced of the closest matching B 4409 allele at nt538(G>C), nt539(A>T) and nt540 (C>G) in exon 3, resulting in an amino acid change from D(GAC) to L(CTG) at codon 180.
CONCLUSION
A novel HLA allele was confirmed by the SBT and it was officially designated as HLA-B 4446 by WHO Nomenclature Committee for Factors of the HLA System in September,2005.
目的
在中国人群中鉴定一个新的HLA等位基因。
方法
在常规HLA等位基因分型中，最初通过常规聚合酶链反应-序列特异性引物（PCR-SSP）和聚合酶链反应-序列特异性寡核苷酸探针（PCR-SSOP）检测到一个新的HLA-B等位基因。采用基于序列的分型（SBT）来鉴定和分析该新等位基因与HLA-B 4409等位基因之间的差异。
结果
该新等位基因的HLA-B第3外显子核苷酸序列与所有其他已知等位基因不同。该等位基因在第3外显子的nt538（G>C）、nt539（A>T）和nt540（C>G）处有3个核苷酸取代，导致第180密码子处的氨基酸从D（GAC）变为L（CTG）。
结论
通过SBT证实了一个新的HLA等位基因，2005年9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 4446。
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