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    • 2. 发明申请
    • Inherited Mitochondrial Dna Mutations in Cancer
    • 继承的线粒体Dna突变在癌症
    • US20080280294A1
    • 2008-11-13
    • US11813660
    • 2005-12-27
    • John PetrosAmanda BaumannDouglas C. WallaceCarrie SunMuta IssaFray F. Marshall
    • John PetrosAmanda BaumannDouglas C. WallaceCarrie SunMuta IssaFray F. Marshall
    • C12Q1/68C07H21/00
    • C12Q1/6886C12Q2600/156C12Q2600/172
    • A method is provided for identifying a subject likely to have, or at risk of developing a disease condition correlated with increased reactive oxygen species (ROS), including cancer, by identifying in the subject a missense mutation in a nucleic acid of Complex III, IV and/or V of the OXPHOS system. This invention also provides a method of identifying a likelihood of having a heritable predisposition to cancer by detecting a homoplasmic missense mutation in non-tumor tissue of an OXPHOS system gene. This invention also provides a method for detecting likelihood of having cancer, predisposition to cancer, and likelihood of passing a predisposition to cancer to progeny involving identifying in non-tumor tissue of the subject a missense mutation in a complex III, IV and/or V gene of the mitochondrial OXPHOS system. The mutation may be a nuclear or mitochondrial mutation. The invention has been exemplified with respect to prostate cancer. When the mutation is homoplasmic in non-tumor tissue this is an indication it is an inherited and inheritable trait, and that the subject is likely to pass on the mutation to her progeny in the case of mutations in mitochondrial DNA or his or her progeny in the case of mutations in nuclear DNA. Both homoplasmic and heteroplasmic mutations in non-tumor tissue can indicate the presence of cancer.
    • 提供了一种方法,用于通过在受试者中识别复合物III,IV的核酸中的错义突变来识别可能具有或有发展与增加的活性氧(ROS)(包括癌症)相关的疾病状况的对象的受试者 和/或V。 本发明还提供了一种通过检测OXPHOS系统基因的非肿瘤组织中的同质错义突变来鉴定具有遗传性易患癌症的可能性的方法。 本发明还提供了一种用于检测癌症可能性,癌症易感性和将癌症倾向通过后代的可能性的方法,其涉及在复合体III,IV和/或V中的受试者的非肿瘤组织中鉴定错义突变 线粒体OXPHOS系统的基因。 突变可能是核或线粒体突变。 关于前列腺癌,已经举例说明了本发明。 当突变在非肿瘤组织中是同质的时,这表明它是一种遗传和遗传性状,并且在线粒体DNA突变或其后代的情况下,受试者很可能将突变传给她的后代 核DNA突变的情况。 非肿瘤组织中均质和异质性突变均可表明存在癌症。