Characterization of a rare HLA-C*08:84 allele and analysis of its 3-D molecular structure.
10.3760/cma.j.cn511374-20200909-00655
- VernacularTitle:罕见等位基因
HLA-
C*08：84碱基序列和蛋白分子三维结构分析
- Author:
Tianju WANG
1
;
Jun QI
;
Hengxin LI
;
Jian HAO
;
Xiaofang WANG
;
Manni WANG
;
Jie FANG
;
Junhua WU
;
Lixia SHANG
;
Le CHEN
Author Information
1. HLA Typing Laboratory, Shaanxi Provincial Blood Center, Xi'an, Shaanxi 710061, China. qijun0802@163.com.
- Publication Type:Journal Article
- MeSH:
Alleles;
Base Sequence;
HLA-B Antigens/genetics*;
HLA-C Antigens/genetics*;
Humans;
Molecular Structure;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2021;38(8):798-802
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To verify a rare allele of human leukocyte antigen (HLA) and analyze its inheritance and 3D molecular structure.
METHODS:PCR-sequence-based typing, PCR-single strand oligonucleotide polymorphism and single allele-specific sequencing were carried out to characterize the rare HLA-C allele and its transmission in the family. Its protein structure was modeled by using SWISS-MODEL, Phyre2 and FATCAT software.
RESULTS:Analysis indicated that the rare allele (HLA-C*08:84) has transmitted from the proband's mother and has differed from HLA-C*08:01 by a single base (g.512G>C), resulting in substitution of an amino acid (p.Trp147Ser). Modeling of the 3D structure of the encoded protein indicated that the amino acid residue variation is located at the alpha 2 helix, which participates the formation of pocket F. Modeling of the structures of C*08:84, C*08:01, C*08:02, C*08:03 and C*08:22 has suggested significant variation in the peptide binding regions of the backbone, with root mean square errors being 1.70 nm, 1.79 nm, 0.71 nm and 1.70 nm, respectively.
CONCLUSION:A rare HLA-C*08:84 allele has been identified, and its clinical significance has been analyzed.
