title: Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population: evidence for defective alleles.
abstract: A striking proportion of Algerian subjects was reported among patients with congenital recessive methemoglobinemia due to cytochrome b5 reductase deficiency (Kaplan et al. 1979). A population survey was carried out in red blood cells from 1000 Algerian subjects. In 16 subjects, the cytochrome b2 reductase activity was diminished by 50%. Family studies indicated the presence of a defective allele with an overall gene frequency of 0.008. Immunologically cross-reacting material was found in red cells with low cytochrome b5 reductase activity. Leukocytes exhibited normal levels of enzyme in some families and low levels in others suggesting that at least two different deficient alleles at the DIA1 locus were present in the Algerian population. A higher prevalence of the deficient allele(s) was found in subjects of Kabyle origin.
mesh_terms: D000462:Algeria; D042966:Cytochrome-B(5) Reductase / Q000235:genetics*; D005787:Gene Frequency; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008708:Methemoglobinemia / Q000235:genetics; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D010375:Pedigree
chemical_list: D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase