Molecular characterization of a recombination allele of ABO blood group.
10.3760/cma.j.cn511374-20200218-00088
- Author:
Xiaozhen HONG
1
;
Yanmin HE
;
Shu CHEN
;
Yan CHEN
;
Yanling YING
;
Xianguo XU
;
Ji HE
;
Faming ZHU
Author Information
1. Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China. zfm00@ hotmail.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Blood Grouping and Crossmatching;
Female;
Fucosyltransferases/genetics*;
Genotype;
Humans;
Phenotype;
Recombination, Genetic
- From:
Chinese Journal of Medical Genetics
2021;38(1):15-19
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the molecular characteristics of a recombinant allele of the ABO blood group.
METHODS:The ABO phenotype was determined with the tube method. The coding regions of the ABO and FUT1 genes were analyzed by PCR-sequence based typing. The ABO alleles of the proband were determined by allele-specific primer sequencing. The full sequences of the ABO gene of the proband and her mother were determined through next generation sequencing.
RESULTS:The red blood cells of the proband did not agglutinate with anti-H, and the sequence of the FUT1 gene was homozygous for c.551_552delAG.The proband was thereby assigned as para-Bombay. Bi-directional sequencing also found that she was heterozygous for c.261G/del,467C>T,c.526C>G,c.657C>T,c.703G>A,c.796C>A,c.803G>C and c.930G>A of the coding regions of the ABO gene. Allele-specific primer sequencing also found her to carry a ABO*A1.02 allele and a recombinant allele from ABO*O.01.01 and ABO*B.01. The recombination site was located between nucleotide c.375-269 and c.526, and the allele was maternally derived.
CONCLUSION:An recombinant allele of the ABO gene has been identified, which has originated from recombination of ABO*O.01.01 with the ABO*B.01 allele.
