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DETECTION METHOD FOR GENETIC DISEASE

外国特許コード F150008536
整理番号 (S2014-0866-N0)
掲載日 2015年11月20日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2015JP062701
国際公開番号 WO 2015166912
国際出願日 平成27年4月27日(2015.4.27)
国際公開日 平成27年11月5日(2015.11.5)
優先権データ
  • 特願2014-093044 (2014.4.28) JP
発明の名称 (英語) DETECTION METHOD FOR GENETIC DISEASE
発明の概要(英語) The present invention relates to a detection method for a genetic disease, and specifically relates to the detection of a disease gene for autosomal recessive hereditary Charcot-Marie-Tooth disease (CMT). The method of the present invention is characterized by detecting mutations in the membrane metallo-endopeptidase (MME) gene, the FAT tumor suppressor homolog 3 (FAT3) gene, and/or the Sel1 repeat containing 1 (SELRC1) gene in a biological sample.
従来技術、競合技術の概要(英語) BACKGROUND ART
Charcot, kif, heritable disease (CMT) motion sensory (Hereditary Motor Sensory Neuropathy: HMSN) expressed both, of the most representative hereditary genetic disorder. Clinically, progressive muscle weakness , foot deformation, sensory disturbance, or degradation and loss of deep tendon reflexes and.
Clinical genetically is, in the form of autosomal dominant genetic disorder caused by demyelination of the myelin is type CMT1, due to the effects of CMT2 are classified, in the form of autosomal recessive inheritance due to demyelination of the myelin disorder is type CMT4 (AR-CMT1), is due to the effects of AR-CMT2, then X-chromosome is classified as CMTX. Axonal or demyelinating type is whether the thin film transistor, the median line of the neural motor nerve conduction velocity (MCV) can be determined as a boundary 38m/sec.
In addition, demyelinating type clinically also classified in severity and the age of onset, exhibit congenital (floppy infant) in the most severe are congenital low Increased type (Congenital hypomyelinating neuropathy: CHN), after the raw time (usually 2 years old or younger) is to develop , disease (Dejerine-Sottas syndrome: DSS) classified. Further, demyelinating type axons exhibit intermediate MCV type will be referred to as intermediate cases. That is, a genetically and clinically CMT also variety of disease.
1991 PMP22 Year Lupski et al. reported as the cause of the CMT1A gene since the overlap, at least 40 or more CMT-causing genes so far reported, for example CMT4 1 as one of the causal genes, FIG4 genes have been reported (patent document 1). Hereditary disease closely CMT (hereditary motor neuropathy motility: HMN) or hereditary sensory (hereditary sensory neuropathy: HSN), hereditary sensory autonomic (hereditary sensory and autonomic neuropathy: HSAN) taken together, the number of its causative gene are 65 or more nobotta. Then, the current CMT-causing genes have been reported that the protein encoded, myelin component proteins (i), (ii) myelin associated protein transcription factor, (iii) myelin associated protein transport, metabolism, processing, (iv) cell differentiation, maintenance, (v) neurofilament, associated with the transport protein, (vi) mitochondrial related, (vii) DNA repair, transcription, nucleic acid synthesis, (viii) ion channel, such as aminoacyl tRNA synthetase (iv), function to have a wide variety are known.
Current, becomes an index of the CMT1A PMP22 gene overlap inspection is, performed by an adaptation is an insurance in Japan. The responsible gene and the part of the other known, commercially available from United States Athena diagnostics and genetic testing is provided, the inspection is performed in Japan and which .
On the other hand, after the year 2005, next generation (Next-Generation Sequencing: NGS) technology with the advance of genome analysis techniques, gene analysis low cost at a higher speed becomes possible. 2010 Year Mendelian disease for the first time by the analysis of the causal genes have been identified since, in many human genetic diseases and pathological mutations as identified, new with respect to the responsible gene CMT have been found (non-patent document 1-4).
  • 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
  • KAGOSHIMA UNIVERSITY
  • 発明者(英語)
  • TAKASHIMA Hiroshi
  • HIGUCHI Yujiro
  • HASHIGUCHI Akihiro
  • YOSHIMURA Akiko
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 IR IS KE KG KN KP KR KZ LA LC LK LR LS 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 SA 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 KM ML MR NE SN ST TD TG
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