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Evidence for a new type of O allele at the ABO locus, due to a combination of the A2 nucleotide deletion and the Ael nucleotide insertion

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Author

Summary, in English

Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO genes of the propositus indicated an A2 gene (C467T and C1060-) apparently inactivated by the same single nucleotide insertion recently reported in individuals with the ABO subgroup Ael. Investigation of relatives confirmed the inheritance of this new inactive hybrid allele.

Publishing year

1996

Language

English

Pages

113-117

Publication/Series

Vox Sanguinis

Volume

71

Issue

2

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Status

Published

Research group

  • Transfusion Medicine

ISBN/ISSN/Other

  • ISSN: 1423-0410