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

F Broly; D Marez; J M Lo Guidice; N Sabbagh; M Legrand; P Boone; U A Meyer

doi:10.1007/BF00197419

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

Hum Genet. 1995 Nov;96(5):601-3. doi: 10.1007/BF00197419.

Authors

F Broly¹, D Marez, J M Lo Guidice, N Sabbagh, M Legrand, P Boone, U A Meyer

Affiliation

¹ Laboratoire de Biochimie, Biologie Moléculaire de l'Hôpital Calmette, Lille, France.

PMID: 8530011
DOI: 10.1007/BF00197419

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Cytochrome P-450 CYP2D6
Cytochrome P-450 Enzyme System / genetics*
Cytochrome-c Oxidase Deficiency*
Humans
Mixed Function Oxygenases / genetics*
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
White People

Substances

Cytochrome P-450 Enzyme System
Mixed Function Oxygenases
Cytochrome P-450 CYP2D6