公开(公告)号：US5556786A

公开(公告)日：1996-09-17

申请号：US52997

申请日：1993-04-27

Applicant: Juha Kere ,  David Schlessinger ,  Albert de la Chapelle

Inventor： Juha Kere ,  David Schlessinger ,  Albert de la Chapelle

IPC: C07K14/47 ,  C12Q1/68 ,  C12N15/00 ,  C07H21/04

CPC classification number: C12Q1/6883 ,  C07K14/47

Abstract: The present invention relates to various yeast artificial chromosomes (YACs) which contain all or a portion of the human EDA gene for anhidrotic ectodermal dysplasia, probes specific for human EDA gene and methods of diagnosis of EDA gene-related disorders.

Abstract translation: 本发明涉及各种酵母人造染色体（YAC），其含有全部或一部分人EDA基因用于嗜酸性外胚层发育不良，特异于人EDA基因的探针和EDA基因相关病症诊断方法。

公开(公告)号：US06242576B1

公开(公告)日：2001-06-05

申请号：US08458745

申请日：1995-06-02

Applicant: Grant R. Sutherland ,  Robert I. Richards ,  David Schlessinger ,  Ramaiah Nagaraja ,  Eric J. Kremer ,  Sui Yu ,  Elizabeth Baker ,  John C. Mulley ,  Jean-Louis Mandel ,  Melanie April Pritchard ,  Michael Lynch

Inventor： Grant R. Sutherland ,  Robert I. Richards ,  David Schlessinger ,  Ramaiah Nagaraja ,  Eric J. Kremer ,  Sui Yu ,  Elizabeth Baker ,  John C. Mulley ,  Jean-Louis Mandel ,  Melanie April Pritchard ,  Michael Lynch

IPC: C07K1618

CPC classification number: C12Q1/6883 ,  C12Q2600/156

Abstract: The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders. Polyclonal and monoclonal antibodies to an amino acid sequence encoded by SEQ ID NO:1, a DNA sequence from the Fragile X site, are also disclosed.

Abstract translation: 跨越X人染色体上脆性X位点的DNA序列已经以纯化和分离的形式获得。 由于脆弱的X与精神发育迟滞相关，跨越这个位点的DNA的可用性允许诊断和治疗相关的精神障碍。 还公开了由SEQ ID NO：1编码的氨基酸序列的多克隆和单克隆抗体，来自脆性X位点的DNA序列。

公开(公告)号：US06197500B1

公开(公告)日：2001-03-06

申请号：US08118200

申请日：1993-09-09

Applicant: Grant R. Sutherland ,  Robert I. Richards ,  David Schlessinger ,  Ramaiah Nagaraja ,  Eric J. Kremer ,  Sui Yu ,  Elizabeth Baker ,  John C. Mulley ,  Jean-Louis Mandel ,  Melanie April Pritchard ,  Michael Lynch

Inventor： Grant R. Sutherland ,  Robert I. Richards ,  David Schlessinger ,  Ramaiah Nagaraja ,  Eric J. Kremer ,  Sui Yu ,  Elizabeth Baker ,  John C. Mulley ,  Jean-Louis Mandel ,  Melanie April Pritchard ,  Michael Lynch

IPC: C12Q168

CPC classification number: C12Q1/6883 ,  C12Q2600/156

Abstract: The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders.

Abstract translation: 跨越X人染色体上脆性X位点的DNA序列已经以纯化和分离的形式获得。 由于脆弱的X与精神发育迟滞相关，跨越这个位点的DNA的可用性允许诊断和治疗相关的精神障碍。

公开(公告)号：US5700926A

公开(公告)日：1997-12-23

申请号：US684672

申请日：1996-07-22

Applicant: Juha Kere ,  David Schlessinger ,  Albert de la Chapelle ,  Anand Kumar Srivastava

Inventor： Juha Kere ,  David Schlessinger ,  Albert de la Chapelle ,  Anand Kumar Srivastava

IPC: C07K14/47 ,  C12Q1/68 ,  C12N15/09 ,  C07H21/04

CPC classification number: C07K14/47 ,  C12Q1/6883 ,  C12Q2600/156

Abstract: The present invention relates to various yeast artificial chromosomes (YACs) which contain all or a portion of the human EDA gene for anhidrotic ectodermal dysplasia, probes specific for human EDA gene and methods of diagnosis of EDA gene-related disorders. The invention also relates to molecular cloning of the EDA gene.

Abstract translation: 本发明涉及各种酵母人造染色体（YAC），其含有全部或一部分人EDA基因用于嗜酸性外胚层发育不良，特异于人EDA基因的探针和EDA基因相关病症诊断方法。 本发明还涉及EDA基因的分子克隆。