title: The genetic control of phenformin 4-hydroxylation.
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.
mesh_terms: D000367:Age Factors; D000428:Alcohol Drinking; D001827:Body Height; D001835:Body Weight; D005260:Female; D005787:Gene Frequency; D006801:Humans; D006900:Hydroxylation; D008297:Male; D010375:Pedigree; D010629:Phenformin / Q000031:analogs & derivatives* / Q000096:biosynthesis / Q000378:metabolism*; D011110:Polymorphism, Genetic; D012907:Smoking
chemical_list: C027283:4-hydroxyphenformin; D010629:Phenformin