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METHOD FOR PREDICTING RISK OF PORENCEPHALY OR CEREBRAL HEMORRHAGE

外国特許コード F130007741
整理番号 S2013-0945-N0
掲載日 2013年12月5日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2012JP077903
国際公開番号 WO 2013069495
国際出願日 平成24年10月29日(2012.10.29)
国際公開日 平成25年5月16日(2013.5.16)
優先権データ
  • 特願2011-247457 (2011.11.11) JP
発明の名称 (英語) METHOD FOR PREDICTING RISK OF PORENCEPHALY OR CEREBRAL HEMORRHAGE
発明の概要(英語) A screening was made intensively on the mutation of COL4A2 gene in 35 Japanese porencephaly patients. As a result, it was found that COL4A2 gene is a causal gene for familial and sporadic porencephaly. An identical hetero mutation of COL4A2 gene was observed in both porencephaly patients and normal persons, and the pathogenic mutation is considered as a dominant inheritance with incomplete penetrance. It can be predicted that a living organism having a COL4A2 gene mutation has a high risk of the occurrence of porencephaly or cerebral hemorrhage.
従来技術、競合技術の概要(英語) BACKGROUND ART
Is hole encephalopathy, and cerebral ventricles in a hemisphere having a traffic or the cavity is found in cystic fibrosis (non-patent document 1) and inborn errors, embryonic phase generated by a stroke or bleeding in the brain circulation disorders are suspected (non-patent document 2, 3). Is hole encephalopathy, clinically (most frequently) used to illustrate a paralysis, quadriplegia, epilepsy, mental retardation and (non-patent document 4, 5) results. Identical twins birthing, abdominal trauma or maternal cardiac arrest, failure of the path by the anticoagulant protein C, and cytomegalovirus infection, the risk factor in sporadic hole encephalopathy (non-patent document 2, 6).
In recent years, collagen type IV α 1 chain encoding genes (COL4A1, MIM 120130) familial mutations in the hole is the cause of encephalopathy (non-patent document 7) have been reported. Then, sporadic de novo mutations in the example reported COL4A1 gene (non-patent document 8-10), an abnormality of the sporadic gene COL4A1, both of the hole to be involved in familial encephalopathy was confirmed. However, many cases that could not be identified COL4A1 gene also has been demanded.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
  • 発明者(英語)
  • MATSUMOTO, Naomichi
  • SAITSU, Hirotomo
国際特許分類(IPC)
指定国 National States: AE AG AL AM AO AT AU AZ BA BB BG BH BN BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IS JP KE KG KM KN KP KR KZ LA LC LK LR LS LT LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PA PE PG PH PL PT QA RO RS RU RW SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA RW SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG
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