Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient

Nobuaki Miyahara, Kuniaki Seyama, Teruhiko Sato, Yoshinosuke Fukuchi, Ryosuke Eda, Hiroyasu Takeyama, Mine Harada

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Alpha-1-antitrypsin (α1AT) deficiency is extremely rare among Orientals. We treated a 37-year-old man with severe pulmonary emphysema associated with a low serum concentration of α1AT. Mutation analysis of the α1AT gene was performed using a reverse transcription-polymerase chain reaction followed by sequencing. The patient proved to be a compound heterozygote carrying a Siiyama deficient allele and a QOclayton null allele. This is the first Japanese case of α1AT 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.

Original languageEnglish
Pages (from-to)336-340
Number of pages5
JournalInternal Medicine
Issue number4
Publication statusPublished - Apr 2001
Externally publishedYes


  • Alpha-1-antitrypsin deficiency
  • Japanese
  • Pulmonary emphysema

ASJC Scopus subject areas

  • Internal Medicine


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