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An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction

In English

Författare

Summary, in English

Genomic DNA from each of four Acl individuals (genotypes AO1, AO1var, AO2) and one AclB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its postulated nucleotide sugar binding site and furthermore extend the translated protein by 37 amino acids (16 more than the A2 enzyme). A sequence-specific primer PCR assay was developed to detect the nucleotide insertion. It was possible to differentiate all 20 serologically defined Acl/AclB individuals available from 145 blood donors with normal ABO phenotypes and genotypes and 26 individuals with various A subgroups other than A1, A2 and Acl. This mutation explains the Acl phenotype and forms the basis of a method for detecting the Ael allele.

Publiceringsår

1995

Språk

Engelska

Sidor

642-647

Publikation/Tidskrift/Serie

Biochemical and Biophysical Research Communications

Volym

216

Issue

2

Dokumenttyp

Artikel i tidskrift

Förlag

Elsevier

Ämne

  • Biological Sciences

Status

Published

Forskningsgrupp

  • Transfusion Medicine

ISBN/ISSN/Övrigt

  • ISSN: 1090-2104