公开(公告)号：EP0787186B1

公开(公告)日：2005-12-28

申请号：EP95934015.9

申请日：1995-10-17

申请人： UNIVERSITY OF OTTAWA ,  RESEARCH DEVELOPMENT CORPORATION OF JAPAN

发明人： MacKENZIE, Alex, E. ,  KORNELUK, Robert, G. ,  MAHADEVAN, Mani, S. ,  McLEAN, Michael ,  ROY, Natalie ,  IKEDA, Joh-E

IPC分类号： C12N15/12 ,  C12N15/63 ,  C12N15/81 ,  C12Q1/68 ,  C07K14/47 ,  G01N33/53

CPC分类号： C07K14/4747 ,  C12Q1/6883 ,  G01N33/6896

摘要： The gene for the autosomal recessive neurodegenerative disorder Spinal Muscular Atrophy has been mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitor proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitor protein (NAIP). A deletion in the (NAIP) domain was identified in persons with Type I, II and III Spinal Muscular Atrophy (SMA) and not in the normal non-SMA population.

公开(公告)号：EP0627011A1

公开(公告)日：1994-12-07

申请号：EP93903760.0

申请日：1993-02-18

申请人： UNIVERSITY OF OTTAWA

发明人： KORNELUK, Robert, G. ,  MAHADEVAN, Mani, S.

IPC分类号： C07K14 ,  C12Q1

CPC分类号： C07K14/471 ,  C12Q1/6883 ,  C12Q2600/156

摘要： L'invention se rapporte à des méthodes diagnostiques et à des processus permettant de détecter la dystrophie myotonique chez les humains. Ces méthodes diagnostiques et ces processus sont basés sur la détection d'une séquence répétitive trinucléotidique CTG dans un polymorphisme de longueur variable du gène de dystrophie myotonique dérivé de la région du chromosome humain 19q13 contenant le locus de dystrophie myotonique.

公开(公告)号：EP0627011B1

公开(公告)日：1997-09-10

申请号：EP93903760.2

申请日：1993-02-18

申请人： UNIVERSITY OF OTTAWA

发明人： KORNELUK, Robert, G. ,  MAHADEVAN, Mani, S.

IPC分类号： C12Q1/68 ,  C07K2/00

CPC分类号： C07K14/471 ,  C12Q1/6883 ,  C12Q2600/156

摘要： Diagnostics and procedures are provided for detecting myotonic dystrophy in humans. The diagnostics and procedures are based on the detection of a CTG trinucleotide repeat in a variable length polymorphism of the myotonic dystrophy gene derived from the region of human chromosome 19q13 containing the myotonic dystrophy locus.

公开(公告)号：EP0787186A1

公开(公告)日：1997-08-06

申请号：EP95934015.0

申请日：1995-10-17

申请人： UNIVERSITY OF OTTAWA ,  RESEARCH DEVELOPMENT CORPORATION OF JAPAN

发明人： MacKENZIE, Alex, E. ,  KORNELUK, Robert, G. ,  MAHADEVAN, Mani, S. ,  McLEAN, Michael ,  ROY, Natalie ,  IKEDA, Joh-E

IPC分类号： G01N33 ,  C07K14 ,  C12N15 ,  C12Q1

CPC分类号： C07K14/4747 ,  C12Q1/6883 ,  G01N33/6896

摘要： The gene for the autosomal recessive neurodegenerative disorder Spinal Muscular Atrophy has been mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitor proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitor protein (NAIP). A deletion in the (NAIP) domain was identified in persons with Type I, II and III Spinal Muscular Atrophy (SMA) and not in the normal non-SMA population.