PI S, a deficiency gene of alpha-antitrypsin: Evidence for the occurrence in western Japan.

An alpha-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 Phe for Ser ( PI S). Crossedimmunoelectrophoresis after iso-electric focusing and agarose gel electrophoresis showed atypical banding patterns. PI S is a rare deficiency gene, but it can occur sporadically all over the Japan. [ABSTRACT FROM AUTHOR]