%0 Journal Article
%T [Study of a Chinese pedigree carrying a novel variant of α-1, 3-N-acetyl galactosaminyl transferase gene].
%A Wu W
%A Li X
%A Guo X
%A Huang X
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 38
%N 2
%D Feb 2021 10
%M 33565076
暂无%R 10.3760/cma.j.cn511374-20200309-00146
%X <B>OBJECTIVE: </B>To explore the genetic basis for a Chinese pedigree with a novel ABO subtype.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.