Identification of a novel HLA-DQB1*03 allele caused by variant of a single nucleotide.
10.3760/cma.j.cn511374-20200306-00133
- VernacularTitle:单个碱基变异致HLA-DQB1*03新等位基因的鉴定
- Author:
Zhanrou QUAN
1
;
Hongyan ZOU
;
Yanping ZHONG
;
Hao CHEN
;
Zhihui DENG
Author Information
1. Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong 518020, China. 958567432@ qq.com.
- Publication Type:Journal Article
- MeSH:
Alleles;
Base Sequence;
HLA-DQ beta-Chains/genetics*;
Humans;
Male;
Nucleotides;
Polymorphism, Single Nucleotide;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2021;38(3):282-285
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate the characteristics of a novel HLA-DQB1 allele identified during routine HLA matching in a leukemia family.
METHODS:The mother and brother of the patient were subjected to PCR sequence-specific oligonucleotide probe (SSOP), PCR sequence-based typ1ing (SBT), as well as next-generation sequencing (NGS).
RESULTS:PCR-SBT revealed that the patient's mother and brother's HLA-DQB1 sequences did not fully match with any known allele combination. NGS revealed that the novel allele has differed from the closest matched DQB1*03:02 with a T>G substitution at position 233 in exon 2, which resulted in substitution of Valine at codon 46 by Glycine. Pedigree analysis confirmed that the novel HLA-DQB1 allele was inherited from his mother.
CONCLUSION:A novel HLA-DQB1 allele has been identified through next generation sequencing and was officially named as HLA-DQB1*03:362 by the World Health Organization HLA Factor Nomenclature Committee.
