Hematology Genetics
Molecular characterization of a recombination allele of ABO blood group
Hong Xiaozhen, He Yanmin, Chen Shu, Chen Yan, Ying Yanling, Xu Xianguo, He Ji, Zhu Faming
Published 2021-01-10
Cite as Chin J Med Genet, 2021, 38(1): 15-19. DOI: 10.3760/cma.j.cn511374-20200218-00088
Abstract
ObjectiveTo analyze the molecular characteristics of a recombinant allele of the ABO blood group.
MethodsThe ABO phenotype was determined with the tube method. The coding regions of the ABO and FUT1genes 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.
ResultsThe 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 theABO gene. Allele-specific primer sequencing also found her to carrya ABO*A1.02 allele and a recombinant allele from ABO*O.01.01 and ABO*B.01. The recombination site was located between nucleotidec.375-269 and c. 526, and the allele was maternally derived.
ConclusionAn recombinant allele of the ABO genehas beenidentified, which has originated from recombination of ABO*O.01.01 with the ABO*B.01 allele.
Key words:
ABO blood group; Allelic recombination; Next generation sequencing; ABO allele
Contributor Information
Hong Xiaozhen
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
He Yanmin
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
Chen Shu
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
Chen Yan
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
Ying Yanling
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
Xu Xianguo
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
He Ji
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
Zhu Faming
Blood Center of Zhejiang Province, Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang 310052, China
