title: A fluorescent multiplex ARMS method for rapid mutation analysis.
abstract: The amplification refractory mutation system (ARMS) is a powerful technique for the identification of mutations. We present a modification of this technique involving coamplification of normal and mutant alleles with primers that differ in length by three to five bases. Fluorescent labelling allows exact sizing of the amplification products on an automated DNA fragment analyser. We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus. This provides an efficient and inexpensive first step for diagnostic mutation analysis in our population.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital.
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers; D005456:Fluorescent Dyes; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008969:Molecular Sequence Data; D009660:Northern Ireland / Q000453:epidemiology; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D005456:Fluorescent Dyes; D010649:Phenylalanine