Characterization of a novel allele of Aw33 subtype of the ABO blood group.
10.3760/cma.j.issn.1003-9406.2020.05.019
- VernacularTitle:一例ABO血型Aw33亚型新等位基因的分子生物学鉴定
- Author:
Yongkui KONG
1
;
Xiaohong CAI
;
Li WANG
;
Ying XIE
;
Xue LIU
;
Yanli CHANG
;
Qiankun YANG
;
Xianping LYU
Author Information
1. Department of Blood Transfusion, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. lvxianping@126.com.
- Publication Type:Case Reports
- MeSH:
ABO Blood-Group System;
genetics;
Alleles;
Exons;
genetics;
Genotype;
Humans;
Phenotype
- From:
Chinese Journal of Medical Genetics
2020;37(5):570-572
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for an A subtype of the ABO blood group.
METHODS:The forward and reverse typing of the ABO blood group were identified by gel card and test tube methods. The ABO gene of the patient was detected by PCR-sequence specific primer (PCR-SSP). Exons 1 to 7 of the ABO gene was amplified by PCR and sequenced. The ABO gene was also subjected to subclone sequencing for haplotype analysis.
RESULTS:The patient's red cells showed weak agglutination with anti-A but non-agglutination with anti-B. The patient's serum showed 1+ agglutination with A cells and 4+ agglutination with B cells. Based on above serological characteristics, the patient was defined as Aw subtype of the ABO blood group. Sequencing analysis showed that the patient was heterozygous for c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.297A>G, c.467C>T, c.543G>C, c.646T>A, c.681G>A, c.771C>T, c.829G>A, in addition with a c.261G deletion. Combined with the result of subclone sequencing, the ABO genotype of the patient was determined as ABO*AW.33. new/O.01.02, which harbored c.467C>T and c.543G>C variants compared with ABO*A1.01 and c.543G>C variant compared with ABO*A1.02. The novel allele has been submitted to GenBank with an accession number of MK302122.
CONCLUSION:A novel allele of Aw33 subtype has been identified with its GTA transferase gene harboring c.467C>T and c.543G>C variants compared with A1.01.
