A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency

• DOI: 10.1007/bf00197419
• Publication Date: 2004-08-28T16:11:47Z
• Authors: F. Broly; D. Marez; J.-M. Lo Guidice; N. Sabbagh; M. Legrand; P. Boone; U. A. Meyer
• Keywords: 0301 basic medicine; 0303 health sciences; Base Sequence; Molecular Sequence Data; Cytochrome-c Oxidase Deficiency; Polymerase Chain Reaction; White People; Mixed Function Oxygenases; 3. Good health; 03 medical and health sciences; Cytochrome P-450 CYP2D6; Cytochrome P-450 Enzyme System; Mutation; Humans; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational

A novel mutation that generates a stop codon in the third exon of the gene encoding the cytochrome P-450 CYP2D6 was identified in a Caucasian having a deficiency of the isozyme, by means of single strand conformation polymorphism analysis of DNA fragments amplified by the polymerase chain reaction, followed by selective sequencing.