一对新的HLA - C等位基因，Cw12042和Cw1203，在密码子77 - 80的KIR相关二态性上存在差异。

A new pair of HLA-C alleles, Cw12042 and Cw1203, differing at the KIR-related dimorphism of codons 77-80.

作者信息

Vilches C, Bunce M, van Dam M, de Pablo R

机构信息

Servicio de Inmunología, Clínica Puerta de Hierro, Madrid, Spain.

出版信息

Tissue Antigens. 1998 Jan;51(1):101-5. doi: 10.1111/j.1399-0039.1998.tb02953.x.

DOI:10.1111/j.1399-0039.1998.tb02953.x

PMID:9459510

Abstract

A previously unknown HLA-C variant of the Cw12 group was identified by PCR-SSP from genomic DNA of cell NDS-JD. Molecular cloning and nucleotide sequence analysis permitted the characterization of the complete coding region of this new allele, Cw12042. The new variant differs from the recently reported Cw12041 by two silent changes at exons 2 and 3, and from Cw1203 by coding changes at codons 77 and 80. Cw1203 (Ser-Asn) and Cw12042 (Asn-Lys) constitute the second known example of HLA-C alleles only differing at the KIR-related dimorphism of residues 77-80. The new allele is associated in cell NDS-JD with the haplotype HLA-A2403, Cw12042, B51, DRB11502, DRB50102, DQB10601, possibly related from the evolutionary aspect to the ancestral haplotype A2402, Cw1202, B5201, DRB11502, DRB50102, DQB10601.

摘要

通过聚合酶链反应-序列特异性引物（PCR-SSP）从细胞NDS-JD的基因组DNA中鉴定出一种先前未知的Cw12组HLA-C变体。分子克隆和核苷酸序列分析确定了这个新等位基因Cw12042的完整编码区特征。该新变体与最近报道的Cw12041在第2和第3外显子上有两个沉默变化，与Cw1203在密码子77和80处有编码变化。Cw1203（Ser-Asn）和Cw12042（Asn-Lys）构成了仅在第77-80位残基的KIR相关二态性上不同的HLA-C等位基因的第二个已知例子。在细胞NDS-JD中，新等位基因与单倍型HLA-A2403、Cw12042、B51、DRB11502、DRB50102、DQB10601相关联，从进化角度来看，可能与祖先单倍型A2402、Cw1202、B5201、DRB11502、DRB50102、DQB10601有关。