[1]王天菊,陈利萍,王小芳,等.WHO HLA命名委员会命名的新等位基因HLA-A*24:327序列分析及确认[J].现代检验医学杂志,2016,31(05):18-22.[doi:10.3969/j.issn.1671-7414.2016.05.005]
　WANG Tian-ju,CHEN Li-ping,WANG Xiao-fang,et al.Sequence Analysis and Identification of A Novel HLA-A* 24:327 Allele Been Designated by the HLA Nomenclature Committee of WHO[J].Journal of Modern Laboratory Medicine,2016,31(05):18-22.[doi:10.3969/j.issn.1671-7414.2016.05.005]
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WHO HLA命名委员会命名的新等位基因HLA-A*24:327序列分析及确认()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第31卷
期数:
2016年05期
页码:
18-22
栏目:
论著
出版日期:
2016-10-21

文章信息/Info

Title:
Sequence Analysis and Identification of A Novel HLA-A* 24:327 Allele Been Designated by the HLA Nomenclature Committee of WHO
文章编号:
1671-7414(2016)05-018-05
作者:
王天菊; 陈利萍; 王小芳; 王满妮; 齐 珺
陕西省血液中心血型室,西安 710061
Author(s):
WANG Tian-ju; CHEN Li-ping; WANG Xiao-fang; WANG Man-ni; QI Jun
Shaanxi Blood Center,Xi'an 710061,China
关键词:
人类白细胞抗原;  测序;  组序列特异性引物;  新等位基因
分类号:
Q781
DOI:
10.3969/j.issn.1671-7414.2016.05.005
文献标志码:
A
摘要:
目的 发现一个人类白细胞抗原(HLA)-A新等位基因并对其核苷酸序列进行分析及确认。方法 采用序列特异性寡核苷酸探针技术(SSO)对2015年中国造血干细胞捐献者资料库(CMDP)陕西分库入库数据进行HLA常规检测,针对罕见结果进一步选择多聚酶链反应-测序(PCR-SBT)和组序列特异性引物(GSSP)进行确证试验,明确突变位点。结果 SSO分型结果显示为罕见等位基因,经PCR-SBT复核无完全匹配结果,提示疑似新等位基因,经GSSP确证发现该基因与同源基因HLA-B*24:02:01:01相比,在第3外显子544位置发生碱基变异由G>A,该突变造成氨基酸序列158位由丙氨酸(GCC)变成苏氨酸(ACC)。结论 确认了一个新的HLA-A等位基因,2015年12月31日被世界卫生组织HLA命名委员会正式命名为HLA-A*24:327。
Abstract:
Objective To do analysis of sequence and identify a novel HLA-A allele in Chinese hematopoietic stem cell donors.Methods A rare HLA-A allele was initially detected by Luminex PCR-SSO typing,then the sample was sequenced by sequence-based typing(SBT)and the group-specific sequencing primer(GSSP)to confirm the mutation allele and locus.Results The sequence of thesample results showed that the allele compared with the highest homologous allele HLA-A*24:02:01:01 was the difference in the exon 3 at position 544 G>A,resulting in an amino acid sequence of HLA-A*24:02:01:01 at position 158 change Ala to Thr.Conclusion This allele is a new HLA-A allele and has been designated as HLA-A*24:327 by the HLA Nomenclature Committee of World Health Organization(WHO)

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:本课题受中国造血干细胞捐献者资料库(CMDP)资助。
作者简介:王天菊(1984-),女,主管技师,硕士,主要从事HLA分型确认工作,Tel:15353557936,E-mail:wangtianju2007@163.com。
通讯作者:齐 珺,女,博士,副主任技师,Tel:029-85253575,E-mail:qijun0802@163.com。
更新日期/Last Update: 2016-10-30