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PI * S iiyama , a deficiency gene of alpha1-antitrypsin: Evidence for the occurrence in western Japan

1993; Springer Science+Business Media; Volume: 38; Issue: 2 Linguagem: Inglês

10.1007/bf01883709

0021-5074

Isao Yuasa, Yuji Sugimoto, M. Ichinose, Yukio Matsumoto, Yasuyuki Fukumaki, Takao Sasaki, Kichiro Okada,

Antimicrobial Peptides and Activities

An alpha1-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 ). Crossedimmunoelectrophoresis after iso-electric 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.