一个白种人家庭的新型HLA - A*0119等位基因，其在一个高度保守区域存在突变。

A novel HLA-A*0119 allele of a Caucasian family containing a mutation in a highly conserved region.

作者信息

Schlaf G, Wahle A, Seliger B, Altermann W W

机构信息

Institute of Medical Immunology, Interbranch HLA-Laboratory, Martin Luther University Halle-Wittenberg, Halle, Germany.

出版信息

Int J Immunogenet. 2006 Aug;33(4):247-8. doi: 10.1111/j.1744-313X.2006.00606.x.

DOI:10.1111/j.1744-313X.2006.00606.x

PMID:16893386

Abstract

A novel human leucocyte antigen (HLA)-A (HLA-A0119) allele has been identified in two individuals of a Caucasian family from Middle Europe using a single-allele-specific sequencing strategy. This allele is identical to the HLA-A0101 allele except for one point mutation in the highly conserved codon 92 (TCT --> GCT) resulting in an amino acid change from serine to alanine.

摘要

采用单等位基因特异性测序策略，在一个来自中欧的白种人家庭的两名个体中鉴定出一种新型人类白细胞抗原（HLA）-A（HLA-A0119）等位基因。该等位基因与HLA-A0101等位基因相同，只是在高度保守的第92位密码子（TCT --> GCT）处有一个点突变，导致氨基酸由丝氨酸变为丙氨酸。