title: Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.
abstract: Alpha-1-antitrypsin (alpha1AT) deficiency is extremely rare among Orientals. We treated a 37-year-old man with severe pulmonary emphysema associated with a low serum concentration of alpha1AT. Mutation analysis of the alpha1AT gene was performed using a reverse transcription-polymerase chain reaction followed by sequencing. The patient proved to be a compound heterozygote carrying a S(iiyama) deficient allele and a QO(clayton) null allele. This is the first Japanese case of alpha1AT deficiency to arise from such compound heterozygosity in a family with no apparent consanguineous marriage, suggesting that the gene frequency for deficient alleles might be somewhat higher than previously estimated.
authors.affiliation: Department of Internal Medicine, Respiratory Disease Center, National Sanyo Hospital, Ube, Yamaguchi.
authors.forename: N
authors.initials: N
authors.lastname: Miyahara
authors.forename: K
authors.initials: K
authors.lastname: Seyama
authors.forename: T
authors.initials: T
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuchi
authors.forename: R
authors.initials: R
authors.lastname: Eda
authors.forename: H
authors.initials: H
authors.lastname: Takeyama
authors.forename: M
authors.initials: M
authors.lastname: Harada
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004646:Emphysema / Q000209:etiology; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin