一名巴西白种人中新型HLA - B39等位基因B*3913的特征分析。

Characterization of a new HLA-B39 allele, B*3913, in a Brazilian Caucasian.

作者信息

Maertens R, De Canck I, Moraes M E, Vande Casteele N, Van Reybroeck G, Vanderborght B, Moraes J R, Rossau R

机构信息

Innogenetics N.V., Ghent, Belgium.

出版信息

Tissue Antigens. 1998 Dec;52(6):583-6. doi: 10.1111/j.1399-0039.1998.tb03091.x.

DOI:10.1111/j.1399-0039.1998.tb03091.x

PMID:9894859

Abstract

A panel of samples, previously typed by serology, was retyped using a line probe assay. One sample from a Brazilian Caucasian individual was serologically typed as B52/B39, but showed an aberrant HLA-B pattern on the diagnostic strip and was typed as B52012/B39new. Further analysis by allele-specific amplification and subsequent sequencing of exons 2 and 3 revealed a G(B3908)-to-T nucleotide substitution at position 467 (codon 156) resulting in an Arg (B3908)-to-Leu substitution. Furthermore, the sequence revealed a silent mutation at position 174 (codon 58): a G(B3908)-to-A nucleotide switch. The sequence has been sent to the EMBL databank and the HLA Nomenclature Committee, and the allele was named B3913.

摘要

一组先前通过血清学进行分型的样本，使用线性探针分析重新进行分型。一名巴西白种人的样本血清学分型为B52/B39，但在诊断条带上显示出异常的HLA - B模式，经分型为B52012/B39new。通过等位基因特异性扩增以及随后对外显子2和3的测序进一步分析发现，在第467位（密码子156）发生了一个从G（B3908）到T的核苷酸替换，导致从精氨酸（B3908）到亮氨酸的替换。此外，该序列在第174位（密码子58）显示出一个沉默突变：从G（B3908）到A的核苷酸转换。该序列已提交至欧洲分子生物学实验室数据库和HLA命名委员会，该等位基因被命名为B3913。