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[一种新型HLA - B*3936等位基因的鉴定与序列分析]

[Identification and sequence analysis of a novel HLA-B*3936 allele].

作者信息

Dai Wei-Jian, Zhang Wei, He Jun-Jun, Wang Wei, Han Zhe-Dong, Zhu Fa-Ming, Yan Li-Xing

机构信息

The First Affiliated Hospital, Medical College of Zhejiang University, Hangzhou 310003, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2007 Dec;15(6):1281-3.

PMID:18088484
Abstract

The aim of study was to confirm the novel HLA allele HLA-B3936 in Chinese population and to analyze its sequence. The proband was a cord blood donor in the Zhejiang province. DNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-B exons 2 - 4 of the proband was performed by allele specific primer PCR and the amplified product was sequenced bidirectionally with primers. The sequencing results showed HLA-B alleles of the proband as B4002 and the novel allele. The sequences of the novel allele have been submitted to GenBank (DQ242650, DQ242651, DQ242652). After Blast HLA analysis, the novel allele showed four nucleotide differences with HLA-B3901 at nucleotide position 527 T-->A, 538 C-->T, 539 T-->G, 544 A-->G in exon 3. It resulted in three amino acid change from Val to Glu at codon 152, Ile to Trp at codon 156, Thr to Ala at codon 158. The result suggested that this allele is a novel allele and has been officially named HLA-B3936 by the WHO Nomenclature Committee.

摘要

本研究的目的是在中国人群中确认新的HLA等位基因HLA - B3936并分析其序列。先证者是浙江省一名脐带血捐献者。采用PEL - FREEZ DNA提取试剂盒从全血中提取DNA。通过等位基因特异性引物PCR对先证者的HLA - B外显子2 - 4进行扩增,扩增产物用引物进行双向测序。测序结果显示先证者的HLA - B等位基因为B4002和新等位基因。新等位基因的序列已提交至GenBank(DQ242650、DQ242651、DQ242652)。经Blast HLA分析,该新等位基因在第3外显子的核苷酸位置527 T→A、538 C→T、539 T→G、544 A→G处与HLA - B3901有4个核苷酸差异。这导致在密码子152处从缬氨酸变为谷氨酸、在密码子156处从异亮氨酸变为色氨酸、在密码子158处从苏氨酸变为丙氨酸的3个氨基酸变化。结果表明该等位基因是一个新等位基因,已被世界卫生组织命名委员会正式命名为HLA - B3936。

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