发明授权
US06228594B1 Method for determining the presence or absence of a hereditary hemochromatosis gene mutation
有权
确定遗传性血色素沉着病基因突变存在或不存在的方法
- 专利标题： Method for determining the presence or absence of a hereditary hemochromatosis gene mutation
- 专利标题（中）： 确定遗传性血色素沉着病基因突变存在或不存在的方法
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申请号： US09503444申请日： 2000-02-14
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公开(公告)号： US06228594B1公开(公告)日： 2001-05-08
- 发明人: Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
- 申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
- 主分类号： C12Q168
- IPC分类号： C12Q168
摘要：
The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
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