title: PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan.
abstract: An alpha 1-antitrypsin deficiency associated with pulmonary emphysema was investigated in a 32-year-old Japanese male. Polymerase chain reaction (PCR)-amplified fragments and dot blot hybridization with allele-specific oligonucleotide probes revealed that the patient was homozygous for a C to T transition at codon 53, resulting in the substitution of Phe53 for Ser53 (PI*S(iiyama)). Crossed immunoelectrophoresis after isoelectric focusing and agarose gel electrophoresis showed atypical banding patterns. PI*S(iiyama) is a rare deficiency gene, but it can occur sporadically all over the Japan.
authors.affiliation: Department of Legal Medicine, Tottori University School of Medicine, Yonago, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: Y
authors.initials: Y
authors.lastname: Sugimoto
authors.forename: M
authors.initials: M
authors.lastname: Ichinose
authors.forename: Y
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fukumaki
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Okada
mesh_terms: D000328:Adult; D003062:Codon; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011656:Pulmonary Emphysema / Q000150:complications; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D003062:Codon; D000515:alpha 1-Antitrypsin