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  Patent History
  • Application
    AU 20030218601 2003-03-31
  • Publication
    AU 2003218601 2003-10-27

published patent: PHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon

TitlePHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon
Priority Date2003-03-31 PCT/CN2003000231
2002-04-08 US 10/370968P
Inventors
Issue Date2003
Citation
Australia Published Patent Application AU 2003218601. Australia: IP Australia, 2003 How to Cite?
AbstractThe invention relates generally to polymorphisms or mutations of the PHOX2B gene. More particularly, the invention relates to polymorphisms or mutations of the PHOX2B gene that are responsible for the disease Hirschsprung's disease (HSCR), which is a neural crest-associated developmental disorder. Specifically, the invention relates to the detection of a single base-pair polymorphism in the PHOX2B gene that is associated with HSCR. The invention also relates to methods and kits for screening for carriers of mutations of the PHOX2B gene and the diagnosis of increased risk of HSCR. The invention further relates to diagnosing predisposition or susceptibility to increased risk of developing HSCR by screening for the presence of a polymorphism associated with HSCR. The invention also relates to compositions for screening for the polymorphism and treatment choices for patients having the polymorphism of the present invention. The invention further relates to providing polymorphisms in the PHOX2B gene for forensic use and in paternity test. The invention also relates to screening assays and therapeutic and prophylactic methods.
Persistent Identifierhttp://hdl.handle.net/10722/176533

 

DC FieldValueLanguage
dc.date.accessioned2012-11-30T08:38:05Z-
dc.date.available2012-11-30T08:38:05Z-
dc.date.issued2003-
dc.identifier.citationAustralia Published Patent Application AU 2003218601. Australia: IP Australia, 2003en_HK
dc.identifier.urihttp://hdl.handle.net/10722/176533-
dc.description.abstractThe invention relates generally to polymorphisms or mutations of the PHOX2B gene. More particularly, the invention relates to polymorphisms or mutations of the PHOX2B gene that are responsible for the disease Hirschsprung's disease (HSCR), which is a neural crest-associated developmental disorder. Specifically, the invention relates to the detection of a single base-pair polymorphism in the PHOX2B gene that is associated with HSCR. The invention also relates to methods and kits for screening for carriers of mutations of the PHOX2B gene and the diagnosis of increased risk of HSCR. The invention further relates to diagnosing predisposition or susceptibility to increased risk of developing HSCR by screening for the presence of a polymorphism associated with HSCR. The invention also relates to compositions for screening for the polymorphism and treatment choices for patients having the polymorphism of the present invention. The invention further relates to providing polymorphisms in the PHOX2B gene for forensic use and in paternity test. The invention also relates to screening assays and therapeutic and prophylactic methods.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License For Public Patent Documentsen_US
dc.titlePHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereonen_HK
dc.typePatenten_US
dc.description.naturepublished_or_final_versionen_US
dc.contributor.inventorTam, PKHen_HK
dc.contributor.inventorLui, VCHen_HK
dc.contributor.inventorChen, BLSen_HK
dc.contributor.inventorGarcia-Barcelo, MMen_HK
dc.contributor.inventorSham, MH-
patents.identifier.applicationAU 20030218601en_HK
patents.description.assigneeUNIV HONG KONGen_HK
patents.description.countryAustraliaen_HK
patents.date.publication2003-10-27en_HK
patents.date.application2003-03-31en_HK
patents.date.priority2003-03-31 PCT/CN2003000231en_HK
patents.date.priority2002-04-08 US 10/370968Pen_HK
patents.description.ccAUen_HK
patents.identifier.publicationAU 2003218601en_HK
patents.relation.familyAU 2003218601 (A1) 2003-10-27en_HK
patents.relation.familyUS 2003224424 (A1) 2003-12-04en_HK
patents.relation.familyUS 7198898 (B2) 2007-04-03en_HK
patents.relation.familyWO 03087359 (A1) 2003-10-23en_HK
patents.description.kindA1en_HK
patents.typePatent_publisheden_HK

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