在中国一个家庭中鉴定出一个新的HLA等位基因A*1114。

Identification of a new HLA allele, A*1114, in a Chinese family.

作者信息

Wu G-G, Cheng L-H, Li Z, Deng Z-H, Zou H-Y, Wei T-L, Zhou D, 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):253-5. doi: 10.1034/j.1399-0039.2003.00032.x.

DOI:10.1034/j.1399-0039.2003.00032.x

PMID:12694575

Abstract

A novel HLA-A allele, A1114, was initially detected in two generations of a Chinese family by unusual polymerase chain reaction based sequence-specific primers ( PCR-SSP) reaction patterns and ambiguous sequence-based typing (SBT). Molecular cloning and sequencing analysis indicated that this new allele differs from HLA-A1102 by three nucleotide substitutions in exon 3, 524 A-->G, 526 G-->C, and 527 C-->G, thus changing codon 175 from His to Arg (CAT-->CGT) and codon 176 from Ala to Arg (GCG-->CGG). Segregation analysis showed that the proband inherited his mother's HLA haplotype A1114, B5801, DRB11405. The serologic equivalent of A1114 is a split antigen HLA-A11.2. A PCR-SSP method was developed to distinguish A1114 from other A11 alleles. No further individuals with A*1114 were found in 5000 Chinese bone marrow donors.

摘要

通过基于聚合酶链反应的序列特异性引物（PCR-SSP）的异常反应模式和基于序列的模糊分型（SBT），在一个中国家庭的两代人中首次检测到一个新的HLA-A等位基因A1114。分子克隆和测序分析表明，这个新等位基因与HLA-A1102在外显子3中有三个核苷酸替换，524 A→G、526 G→C和527 C→G，从而使密码子175从组氨酸变为精氨酸（CAT→CGT），密码子176从丙氨酸变为精氨酸（GCG→CGG）。家系分析表明，先证者继承了其母亲的HLA单倍型A1114、B5801、DRB11405。A1114的血清学等效物是一个裂解抗原HLA-A11.2。开发了一种PCR-SSP方法以区分A1114与其他A11等位基因。在5000名中国骨髓供者中未发现其他携带A*1114的个体。