一名中国潜在骨髓供者中新型等位基因HLA - B*5610的鉴定。

Identification of a novel allele HLA-B*5610 in a Chinese potential bone marrow donor.

作者信息

Wu G-G, Cheng L-H, Zhou D, Deng Z-H, Zou H-Y, Wei T-L, Li Z, Li D-C, Gao S-Q, Zhao T-M

机构信息

Shenzhen Institute of Transfusion Medicine, Shenzhen, China.

出版信息

Tissue Antigens. 2003 Mar;61(3):256-8. doi: 10.1034/j.1399-0039.2003.00031.x.

DOI:10.1034/j.1399-0039.2003.00031.x

PMID:12694576

Abstract

A novel HLA-B allele, B5610, has been identified in a potential bone marrow donor, his mother and brother using DNA-based typing and molecular cloning methods. The B5610 allele differs from the closest matching HLA sequence of B5602 by two nucleotide substitutions in exon 3, 559 C-->A and 560 T-->C, resulting in an amino acid change from Leu (CTG) to Thr (ACG) at codon 187. This new allele was segregated together with A24020101 and DRB1140101 in the proband's family. Serology study revealed that B5610 is associated with B22 specificity. A PCR-SSP method was developed to distinguish B5610 from other B56 alleles. No further individuals with B*5610 were detected in 5000 Chinese bone marrow blood donors.

摘要

采用基于DNA的分型和分子克隆方法，在一名潜在骨髓供者及其母亲和兄弟中鉴定出一种新的HLA - B等位基因B5610。B5610等位基因与最匹配的HLA序列B5602在外显子3中有两个核苷酸替换，即559 C→A和560 T→C，导致第187密码子处的氨基酸从亮氨酸（CTG）变为苏氨酸（ACG）。在该先证者家族中，这个新等位基因与A24020101和DRB1140101一起分离。血清学研究表明，B5610与B22特异性相关。开发了一种PCR - SSP方法以区分B5610与其他B56等位基因。在5000名中国骨髓献血者中未检测到更多携带B*5610的个体。