Study of a Chinese pedigree carrying a novel variant of α-1, 3-N-acetyl galactosaminyl transferase gene.
10.3760/cma.j.cn511374-20200309-00146
- Author:
Wen WU
1
;
Xiaojian LI
;
Xingying GUO
;
Xiangyan HUANG
Author Information
1. Department of Transfusion Medicine, The 960th Hospital of the PLA Joint Logistics Support Force, Jinan, Shandong 250031, China. xiangyan73@aliyun.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
China;
Genotype;
Humans;
Male;
Mutation;
N-Acetylgalactosaminyltransferases/genetics*;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(2):178-180
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree with a novel ABO subtype.
METHODS:The proband and his family members were subjected to serological analysis, and their genotypes were determined by fluorescence PCR and direct sequencing of the coding regions of the ABO gene. Exons 6 to 7 of the ABO gene were also subjected to clone sequencing for haplotype analysis.
RESULTS:The proband was determined as an AxB subtype. By fluorescence PCR, he was typed as A/B. Clone sequencing has revealed a insertional mutation c.797_798 insT in exon 7 of the ABO gene, which yielded a novel allele. Pedigree analysis confirmed that the novel ABO*A1.02 allele carried by the proband and his sister was inherited from their father. The c.797_798insT mutation has been submitted to GenBank with an accession number of MK125137.
CONCLUSION:The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.
