2001年4月
Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.
Internal medicine (Tokyo, Japan)
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- 巻
- 40
- 号
- 4
- 開始ページ
- 336
- 終了ページ
- 40
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
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.
- リンク情報
- ID情報
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- ISSN : 0918-2918
- PubMed ID : 11334395