首页> 外国专利> PARKIN GENE NUCLEIC ACID WITH ALTERATIONS EXPRESSED ONLY AT HETEROZYGOUS STATE, VECTOR AND CELL AND NON-HUMAN MAMMAL COMPRISING SAID ACID, POLYPEPTIDES ENCODED BY SAID ACID AND METHODS FOR IDENTIFYING SAID ALTERATIONS

PARKIN GENE NUCLEIC ACID WITH ALTERATIONS EXPRESSED ONLY AT HETEROZYGOUS STATE, VECTOR AND CELL AND NON-HUMAN MAMMAL COMPRISING SAID ACID, POLYPEPTIDES ENCODED BY SAID ACID AND METHODS FOR IDENTIFYING SAID ALTERATIONS

机译：帕金基因核酸，仅在杂合状态，矢量和细胞以及非人类哺乳动物组成的硬酸，硬脂酸，以硬脂酸编码的多肽以及用于识别硬脂酸的方法中表达

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摘要

New nucleic acid (I) encodes human parkin protein and includes at least one of the following genetic alterations: (a) deletion of one or more exons, optionally in combination; (b) multiplication of exons; (c) point mutations; or (d) deletion or insertion of one or more contiguous base pairs. Independent claims are also included for the following: (1) a polypeptide (II) encoded by (I); (2) an antibody (Ab) specific for (II); (3) a nucleic acid probe (Ia) that hybridizes specifically with (I); (4) primer pairs for amplifying all or part of (I); (5) a method for identifying genetic alterations in the parkin gene by amplifying at least part of the gene and detecting the specified alterations; (6) a method for diagnosing susceptibility to parkinsonism by detecting a specified alteration in the parkin gene; (7) a vector containing (I); (8) a cell containing the vector of (8); and (9) a non-human animal containing (I) in its cells. ACTIVITY : None given. MECHANISM OF ACTION : None given. No biological data given.

机译：新核酸（I）编码人帕金蛋白，并包括以下至少一种遗传改变：（a）缺失一个或多个外显子，可选地组合; （b）外显子的繁殖; （c）点突变; （d）删除或插入一个或多个连续碱基对。还包括以下方面的独立权利要求：（1）由（I）编码的多肽（II）; （2）对（II）具有特异性的抗体（Ab）; （3）与（I）特异性杂交的核酸探针（Ia）。（4）用于扩增（I）的全部或部分的引物对; （5）通过扩增基因的至少一部分并检测特定的突变来鉴定Parkin基因的遗传变化的方法; （6）通过检测Parkin基因的特定变化来诊断对Parkinsonism的易感性的方法。（7）含有（I）的载体; （8）包含（8）的载体的细胞; （9）在其细胞中含有（I）的非人类动物。活动：未提供。作用机理：未给出。没有给出生物学数据。

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公开/公告号IL142755B

专利类型
公开/公告日2009-08-03

原文格式PDF
申请/专利权人 AVENTIS PHARMA S.A.;INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE;
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申请/专利号IL142755
发明设计人
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申请日2001-04-23
分类号A01K67/027;A61P25/06;C07K14/47;C07K16/18;C12N1/15;C12N1/19;C12N1/21;C12N5/10;C12N9/00;C12N15/09;C12N15/12;C12Q1/68;G01N33/15;G01N33/50;
国家 IL
入库时间 2022-08-21 19:27:48

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