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Study of a Chinese pedigree carrying a novel variant of α-1, 3-N-acetyl galactosaminyl transferase gene / 中华医学遗传学杂志
Article in Chinese | WPRIM | ID: wpr-879550
Responsible library: WPRO
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.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / ABO Blood-Group System / Humans / Male / China / N-Acetylgalactosaminyltransferases / Alleles / Genotype / Mutation Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / ABO Blood-Group System / Humans / Male / China / N-Acetylgalactosaminyltransferases / Alleles / Genotype / Mutation Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article