Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis

Hum Mol Genet. 1992 Aug;1(5):341-4. doi: 10.1093/hmg/1.5.341.

Abstract

We report the use of a polymerase chain reaction (PCR) format together with denaturing gradient gel electrophoresis (DGGE) which allows rapid identification of the 6 major genotypes (AA, AO, BB, BO, AB and OO) of the human ABO blood group polymorphism in a single amplification. The procedure also distinguishes hitherto undescribed polymorphisms associated with the O and B alleles. Thus in testing 95 unrelated European individuals 4 different O alleles, 2 B alleles and 1 A allele were identified by DGGE and the level of recognisable heterozygosity, and hence the information content of the locus as a genetic marker, was raised from 3/95 (3%) to 66/95 (70%). The procedure is robust, genotyping is rapid and clear-cut, and has immediate implications for the use of the ABO locus in linkage analysis on chromosome 9q, the investigation of disease associations and forensic identification.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Alleles
  • Base Sequence
  • DNA / genetics
  • Electrophoresis / methods
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*

Substances

  • ABO Blood-Group System
  • DNA