title: Rapid single-base mismatch detection in genotyping for phenylketonuria.
abstract: Phenylketonuria (PKU) is a metabolic disorder that results from a deficiency of hepatic phenylalanine hydroxylase (PAH). Identification of the PKU genotype is useful for predicting clinical PKU phenotype. More than 400 mutations resulting in PAH deficiency have been reported worldwide. We used a genedetecting instrument to identify the nine prevalent Japanese mutations in the PAH gene among 31 PKU patients as a preliminary study. This instrument can automatically detect mutations through the use of allelespecific oligonucleotide (ASO) capture probes, and gave results comparable to those of sequencing studies. Each country has uniquely prevalent and specific mutations causing PKU, and less than 50 types of such mutations are generally present in each country. Early genotyping of PKU makes it possible to identify the phenotype and select the optimal therapy for the disease. For early genotyping, the instrumental method described here shortens the time required for genotyping based on mRNA and/or genomic DNA of PKU parents.
authors.affiliation: OYOBO Co., Ltd., 10-24, TOYO-CHO, Tsuruga-shi, Fukui-ken, 914-0047, Japan. yutaka_takarada@bio.toyobo.co.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takarada
authors.forename: Shohei
authors.initials: S
authors.lastname: Kagawa
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Okano
authors.forename: Takakuni
authors.initials: T
authors.lastname: Tanizawa
mesh_terms: D020137:Base Pair Mismatch / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005838:Genotype; D006801:Humans; D007564:Japan; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D004247:DNA; D010651:Phenylalanine Hydroxylase