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通过测序在中国鉴定一种新型HLA-DRB1等位基因

[To identify a novel HLA-DRB1 allele in Chinese by sequencing].

作者信息

Li Wei, Shan Xiao-yan, Liu Na, Ni Lei, Wang Li-jun, Wang Lin, Cui Shuang, He Xiao-mei, Gong Zhi-yin, Zhao Bo-tao, Zhang Zhi-xin

机构信息

HLA Laboratory, Beijing Red Cross Blood Center, Beijing, 100088 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):333-4. doi: 10.3760/cma.j.issn.1003-9406.2010.0.021.

DOI:10.3760/cma.j.issn.1003-9406.2010.0.021
PMID:20533277
Abstract

OBJECTIVE

To identify a novel HLA-DRB1 allele in Chinese.

METHODS

A novel HLA-DR allele was detected by PCR-SSP and SBT in a patient with leukemia.

RESULTS

The sequence of the novel allele was different from all other known alleles. The novel allele differed from the closet matching allele HLA-DRB1*1404 by one nucleotide substitution in exon 2, at position 33 T>C, this resulted in an amino acid change from Tyr to His at codon 17.

CONCLUSION

The novel allele is confirmed as a new HLA allele and it was officially named HLA-DRB1*1461 by WHO Nomenclature Committee in May, 2006.

摘要

目的

在中国人群中鉴定一种新的HLA - DRB1等位基因。

方法

采用聚合酶链反应-序列特异性引物(PCR - SSP)和测序分型技术(SBT)在一名白血病患者中检测到一种新的HLA - DR等位基因。

结果

该新等位基因的序列与所有其他已知等位基因均不同。该新等位基因与最相近的匹配等位基因HLA - DRB1*1404在第2外显子的第33位核苷酸处发生了T>C的替换,这导致第17密码子处的氨基酸由酪氨酸变为组氨酸。

结论

该新等位基因被确认为一种新的HLA等位基因,并于2006年5月被世界卫生组织命名委员会正式命名为HLA - DRB1*1461。

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