首页> 外国专利> METHOD FOR ASSESSING MYELODYSPLASTIC SYNDROME OR MYELOID TUMOR PREDISPOSITION, POLYPEPTIDE AND ANTIBODY THEREFOR, AND CANDIDATE SCREENING METHOD FOR THERAPEUTIC DRUG OR PROPHYLACTIC DRUG THEREFOR

METHOD FOR ASSESSING MYELODYSPLASTIC SYNDROME OR MYELOID TUMOR PREDISPOSITION, POLYPEPTIDE AND ANTIBODY THEREFOR, AND CANDIDATE SCREENING METHOD FOR THERAPEUTIC DRUG OR PROPHYLACTIC DRUG THEREFOR

机译:评估骨髓增生异常综合征或骨髓瘤易感性的方法,多肽和抗体抗体,以及候选药物筛选治疗性药物或益生性药物的方法

摘要

[Problem] To provide a method for assessing myelodysplastic syndrome or myeloid tumor predisposition, on the basis of a genetic diagnos-is using massively parallel sequencing technology, as well as a peptide and antibody therefor, and a method for screening for candidate therapeutic drugs or prophylactic drugs for myelodysplastic syndrome or myeloid tumor. [Solution] A method for assessing whether or not there is a predisposition for the occurrence of myelodysplastic syndrome or myeloid tumor, wherein the method comprises a step for using a sample that includes a subject's hu-man genes and detecting a mutation in at least one gene from among the U2AF35 gene, the ZRSR2 gene, the SFRS2 gene, or the SF3B1 gene. The assessment is that there is a predisposition for the occurrence of myelodys-plastic syndrome or myeloid tumor when at least one of the following is de-tected: a substitution from S to F or Y at amino acid 34 of a protein trans-lated from the U2AF35 gene; a substitution from Q to R or P at amino acid 157 of a protein translated from the U2AF35 gene; any inactivating mutation of a protein translated from the ZRSR2 gene, a substitution from P to H, L, or R at amino acid 95 of a protein translated from the SFRS2 gene; or a sub-stitution from K to E at amino acid 700, a substitution from E to D at amino acid 622, a substitution from H to Q or D at amino acid 662, or a substitution from K to N, T, E, or R at amino acid 666 of a protein translated from the SF3B1 gene. Conversely, if these are not detected, the possibility that there is no predisposition may be indirectly assessed.
机译:[问题]提供一种基于遗传诊断的评估骨髓增生异常综合症或髓样肿瘤易感性的方法,其使用大规模平行测序技术及其肽和抗体,以及用于筛选候选治疗药物或骨髓增生异常综合症或髓样肿瘤的预防药物。 [解决方案]一种用于评估是否存在发生骨髓增生异常综合症或骨髓瘤的诱因的方法,其中该方法包括以下步骤:使用包括受试者的人类基因的样品,并检测至少一个的突变。 U2AF35基因,ZRSR2基因,SFRS2基因或SF3B1基因中的一个基因。评估表明,检测到以下至少一种情况时,容易发生骨髓增生异常综合症或髓样肿瘤:从S转化为F的蛋白质在氨基酸34处由S取代为F或Y U2AF35基因;从U2AF35基因翻译的蛋白质的157位氨基酸从Q取代为R或P;从ZRSR2基因翻译的蛋白质的任何失活突变,从SFRS2基因翻译的蛋白质的氨基酸95处从P取代为H,L或R;或在氨基酸700处从K到E的取代基,在氨基酸622处从E到D的取代基,在氨基酸662处从H到Q或D的取代基,或从K到N,T,E的取代基,从SF3B1基因翻译的蛋白质的氨基酸666的R或R。相反,如果未检测到这些,则可以间接评估没有易感性的可能性。

著录项

  • 公开/公告号EP2757153A1

    专利类型

  • 公开/公告日2014-07-23

    原文格式PDF

  • 申请/专利权人 THE UNIVERSITY OF TOKYO;

    申请/专利号EP20120820708

  • 申请日2012-08-02

  • 分类号C12N15/09;C07K14/47;C07K16/18;C12Q1/68;G01N33/15;G01N33/50;G01N33/68;

  • 国家 EP

  • 入库时间 2022-08-21 15:45:24

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