title: Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues.
abstract: We identified three different missense mutations of the transthyretin (TTR) gene in three Japanese patients with familial amyloidotic polyneuropathy by analysis of their DNAs extracted from formalin-fixed and paraffin-embedded tissues. Patient 1 carried the TTR methionine-30 (Met) mutation (G to A transition at position 1679). DNA sequencing analysis of the TTR gene from patient 2 showed a G to T transversion at position 3830 in exon 3, resulting in an amino acid replacement of serine-50 (Ser) with isoleucine (Ile). Patient 3 had the novel mutation (G to T transversion at position 7314) in exon 4, resulting in an amino acid replacement of alanine-109 (Ala) with Ser. We established DNA diagnostic methods for detecting TTR Ile50 by polymerase chain reaction (PCR)-induced mutation restriction analysis and for TTR Ser109 by PCR-restriction fragment length polymorphism. Gene analysis of archival paraffin-embedded tissues is useful for the precise diagnosis of FAP and for clarifying its molecular pathogenesis in patients for whom fresh genomic DNA is not available.
authors.affiliation: Third Department of Medicine, Miyazaki Medical College, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Date
authors.forename: M
authors.initials: M
authors.lastname: Nakazato
authors.forename: K
authors.initials: K
authors.lastname: Kangawa
authors.forename: K
authors.initials: K
authors.lastname: Shirieda
authors.forename: T
authors.initials: T
authors.lastname: Fujimoto
authors.forename: S
authors.initials: S
authors.lastname: Matsukura
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005260:Female; D005404:Fixatives; D005557:Formaldehyde; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016612:Paraffin Embedding; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*
chemical_list: D005404:Fixatives; D011228:Prealbumin; D005557:Formaldehyde; D004247:DNA