Analysis of an ABO subtype with a novel variation.
10.3760/cma.j.cn511374-20210519-00428
- Author:
Xinming WU
1
;
Fangyuan JI
;
Ni HUO
;
Linhai ZHANG
;
Liping LIU
;
Yong YAO
Author Information
1. Department of Blood Transfusion, the Second People's Hospital of Lianyungang, Lianyungang, Jiangsu 222023, China. 15950736628@163.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Exons;
Genotype;
Heterozygote;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(10):1158-1160
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the molecular characteristics of a ABO subgroup.
METHODS:The ABO phenotype was determined with the tube method. Exons of the ABO gene were analyzed by Sanger sequencing, and haplotypes of exons 6 and 7 were analyzed by cloning sequencing.
RESULTS:By forward typing, the red blood cells showed 3+ agglutination reaction with anti-A and 4+ agglutination with anti-B. A weak reaction with A1 cells and no agglutination reaction with B, O cells by the reverse typing. Sequencing results showed heterozygosity including c.297A>G, c.467C>T, c.526C>G, c.608A>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C, c.930G>A. Cloning sequencing revealed a c.608A>G variant in the A allele compared with the ABO*A1.02.
CONCLUSION:A new variant site of subtype A of c.608G variation has been identified.