title: [Alpha 1-antitrypsin deficiency (Siiyama) with pulmonary emphysema].
abstract: A 44-year-old man was admitted to the hospital with dyspnea on exertion. Chest radiographs and pulmonary function tests showed evidence of pulmonary emphysema. Serum alpha 1-antitrypsin (alpha 1-AT) could not be detected by nephelometry, immuno-electrophoresis, or iso-electric focusing. However, allele-specific PCR revealed a genotype homozygotic for an alpha 1-AT deficient variant of the Siiyama allele. An elder sister of the proband was also a homozygous carrier of the Siiyama allele. The amino acid sequence for normal alpha 1-AT variants had been substituted by Arg101-Val213-Glu376 in the proband, demonstrating that the alpha 1-antitrypsin-deficient Siiyama variant in this pedigree was derived from M 1 (Val213).
authors.affiliation: Department of Pulmonary Medicine, Tsukuba University, Ibaraki, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kadono
authors.forename: T
authors.initials: T
authors.lastname: Sakamoto
authors.forename: M
authors.initials: M
authors.lastname: Ohtsuka
authors.forename: M
authors.initials: M
authors.lastname: Kanashiki
authors.forename: O
authors.initials: O
authors.lastname: Murakami
authors.forename: M
authors.initials: M
authors.lastname: Hagiya
authors.forename: Y
authors.initials: Y
authors.lastname: Ishii
authors.forename: A
authors.initials: A
authors.lastname: Nomura
authors.forename: H
authors.initials: H
authors.lastname: Satoh
authors.forename: M
authors.initials: M
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Uchida
authors.forename: T
authors.initials: T
authors.lastname: Homma
authors.forename: K
authors.initials: K
authors.lastname: Sekizawa
authors.forename: S
authors.initials: S
authors.lastname: Hasegawa
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011656:Pulmonary Emphysema / Q000378:metabolism*; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
chemical_list: D000515:alpha 1-Antitrypsin; C097145:alpha 1-antitrypsin Siiyama