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 journalArticle

6 Citations (Scopus)

Abstract

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
Volume40
Issue number4
Publication statusPublished - Apr 2001
Externally publishedYes

Fingerprint

Alleles
alpha 1-Antitrypsin Deficiency
Pulmonary Emphysema
Heterozygote
Marriage
Gene Frequency
Reverse Transcription
Polymerase Chain Reaction
Mutation
Serum
Genes
alpha 1-antitrypsin Siiyama
Autosomal Recessive alpha-1-Antitrypsin Deficiency

Keywords

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

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Miyahara, N., Seyama, K., Sato, T., Fukuchi, Y., Eda, R., Takeyama, H., & Harada, M. (2001). Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient. Internal Medicine, 40(4), 336-340.

Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient. / Miyahara, Nobuaki; Seyama, Kuniaki; Sato, Teruhiko; Fukuchi, Yoshinosuke; Eda, Ryosuke; Takeyama, Hiroyasu; Harada, Mine.

In: Internal Medicine, Vol. 40, No. 4, 04.2001, p. 336-340.

Research output: Contribution to journalArticle

Miyahara, N, Seyama, K, Sato, T, Fukuchi, Y, Eda, R, Takeyama, H & Harada, M 2001, 'Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient', Internal Medicine, vol. 40, no. 4, pp. 336-340.
Miyahara N, Seyama K, Sato T, Fukuchi Y, Eda R, Takeyama H et al. Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient. Internal Medicine. 2001 Apr;40(4):336-340.
Miyahara, Nobuaki ; Seyama, Kuniaki ; Sato, Teruhiko ; Fukuchi, Yoshinosuke ; Eda, Ryosuke ; Takeyama, Hiroyasu ; Harada, Mine. / Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient. In: Internal Medicine. 2001 ; Vol. 40, No. 4. pp. 336-340.
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