The genetic control of phenformin 4-hydroxylation

J Med Genet. 1985 Oct;22(5):361-6. doi: 10.1136/jmg.22.5.361.

Abstract

Previously published results of phenformin 4-hydroxylation in 195 unrelated white British volunteers and 87 family members of 27 randomly selected probands have been subjected to genetic analysis. The results clearly show that about 9% of this population has a genetically determined defect in carrying out this oxidation reaction. The character for the defect is inherited in a Mendelian autosomal recessive fashion. The polymorphism shows a substantial degree of dominance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Alcohol Drinking
  • Body Height
  • Body Weight
  • Female
  • Gene Frequency
  • Humans
  • Hydroxylation
  • Male
  • Pedigree
  • Phenformin / analogs & derivatives*
  • Phenformin / biosynthesis
  • Phenformin / metabolism*
  • Polymorphism, Genetic
  • Smoking

Substances

  • 4-hydroxyphenformin
  • Phenformin