Mapping of a restriction fragment length polymorphism within the human aldolase B gene

Hum Genet. 1987 Oct;77(2):115-7. doi: 10.1007/BF00272375.

Abstract

Peripheral blood DNA was hybridized to the full-length cDNA and the cloned structural gene of human aldolase B. With PvuII endonuclease a restriction fragment length polymorphism was detected that was present in the heterozygous state in about 21% of the individuals tested. A map of the human aldolase gene was constructed for the two groups of individuals found to produce different fragments after PvuII digestion. This allowed the localization of the polymorphic site within the gene, which was found to be due to the loss of a PvuII site in the last intron upstream from the 3' end. This polymorphism may be used as a genetic marker to study individuals affected by hereditary fructose intolerance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • DNA / genetics
  • Fructose-Bisphosphate Aldolase / genetics*
  • Genes*
  • Genetic Markers
  • Humans
  • Nucleic Acid Hybridization
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*

Substances

  • Genetic Markers
  • DNA
  • Fructose-Bisphosphate Aldolase