一个高加索家庭中发现的一种新的HLA - A33（A3309）等位基因，其在蛋白质第66位上与HLA - A*3308不同。

A novel HLA-A33 (A3309) allele in a Caucasian family that differs at protein position 66 from HLA-A*3308.

作者信息

Altermann W W, Erhuma M, Seliger B, Schlaf G

机构信息

Institute of Medical Immunology, Interbranch HLA-Laboratory, Martin Luther University Halle-Wittenberg, D-06097 Halle, Germany.

出版信息

Tissue Antigens. 2007 Jul;70(1):69-70. doi: 10.1111/j.1399-0039.2007.00857.x.

DOI:10.1111/j.1399-0039.2007.00857.x

PMID:17559584

Abstract

A novel human leucocyte antigen (HLA)-A33 (HLA-A3309) allele has been identified in a Caucasian family from Middle Europe using single allele-specific sequencing strategy. This allele is identical to the HLA-B3308 allele except for one point mutation in exon 2 at codon 66 (AAA-->AAT), resulting in an amino acid change from lysine (K) to asparagine (N).

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族中鉴定出一种新型人类白细胞抗原（HLA）-A33（HLA-A3309）等位基因。该等位基因与HLA-B3308等位基因相同，只是外显子2第66密码子处有一个点突变（AAA→AAT），导致氨基酸从赖氨酸（K）变为天冬酰胺（N）。