公开(公告)号：US20110269122A1

公开(公告)日：2011-11-03

申请号：US13178445

申请日：2011-07-07

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。

公开(公告)号：US07067255B2

公开(公告)日：2006-06-27

申请号：US10138888

申请日：2002-05-02

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C07H21/04 ,  C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

公开(公告)号：US5712098A

公开(公告)日：1998-01-27

申请号：US632673

申请日：1996-04-16

申请人： Zenta Tsuchihashi ,  Andreas Gnirke ,  Winston J. Thomas ,  Dennis T. Drayna ,  David Ruddy ,  Roger K. Wolff ,  John N. Feder

发明人： Zenta Tsuchihashi ,  Andreas Gnirke ,  Winston J. Thomas ,  Dennis T. Drayna ,  David Ruddy ,  Roger K. Wolff ,  John N. Feder

IPC分类号： A61K38/00 ,  C07K14/47 ,  C12Q1/68 ,  C07H21/04

CPC分类号： C07K14/47 ,  A61K38/00

摘要： A single base-pair polymorphism involving a mutation from Guanine (G), in individuals unaffected by the hereditary hemochromatosis (HH) gene defect, to Adeninc (A), in individuals affected by the HH gene defect is disclosed. The presence or absence of the polymorphic allele is highly predictive of whether an individual is at risk from HH: the polymorphism is present in 82% of affected individuals and only 4% of a random population screen. Methods of diagnosis, markers, and primers are disclosed and claimed in accordance with the present invention.

摘要翻译： 公开了在受H基因缺陷影响的个体中涉及到不属于遗传性血色素沉着（HH）基因缺陷的个体中鸟嘌呤（G））的突变到Adeninc（A）的单个碱基对多态性。 多形性等位基因的存在或不存在是高度预测个体是否处于HH风险中：多态性存在于受影响个体的82％中，只有4％存在于随机群体筛选中。 根据本发明公开和要求保护的诊断方法，标记物和引物。

公开(公告)号：US08257927B2

公开(公告)日：2012-09-04

申请号：US13178445

申请日：2011-07-07

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C07H21/04 ,  C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。

公开(公告)号：US07078513B1

公开(公告)日：2006-07-18

申请号：US09497957

申请日：2000-02-04

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C07H21/04 ,  C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。

公开(公告)号：US6025130A

公开(公告)日：2000-02-15

申请号：US652265

申请日：1996-05-23

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： A61K38/00 ,  A61K38/17 ,  A61K39/00 ,  A61K39/395 ,  A61K48/00 ,  C07H21/04 ,  C07K14/47 ,  C07K14/705 ,  C07K14/74 ,  C07K16/28 ,  C12N15/10 ,  C12N15/85 ,  C12P19/34 ,  C12Q1/68 ,  C12N15/00

CPC分类号： C07H21/04 ,  C07K14/47 ,  C07K14/70539 ,  A61K38/00 ,  A61K48/00 ,  C12Q1/6883

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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂以及小分子治疗剂。

公开(公告)号：US20100204051A1

公开(公告)日：2010-08-12

申请号：US12389324

申请日：2009-02-19

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C40B30/04 ,  C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。

公开(公告)号：US06228594B1

公开(公告)日：2001-05-08

申请号：US09503444

申请日：2000-02-14

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C12Q168

CPC分类号： C07H21/04 ,  A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/70539 ,  C12Q1/6883

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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂以及小分子治疗剂。

公开(公告)号：US07998680B2

公开(公告)日：2011-08-16

申请号：US12389324

申请日：2009-02-19

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C07H21/04 ,  C12Q1/68

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。

公开(公告)号：US07579169B2

公开(公告)日：2009-08-25

申请号：US11327689

申请日：2006-01-05

申请人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

发明人： Winston J. Thomas ,  Dennis T. Drayna ,  John N. Feder ,  Andreas Gnirke ,  David Ruddy ,  Zenta Tsuchihashi ,  Roger K. Wolff

IPC分类号： C07H21/02 ,  C12N15/00 ,  C12P21/00 ,  C12N15/70

CPC分类号： C07K14/47 ,  A61K38/00 ,  A61K48/00 ,  C07H21/04 ,  C07K14/70539 ,  C12Q1/6883

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 related 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.

摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。