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DETECTION OF VARIATIONS IN THE DNA METHYLATION PROFILE

机译:检测DNA甲基化特征

摘要

A nucleic acid, (I), comprising a sequence of 18 bases, of a segment of chemically pretreated DNA (CP DNA) of genes associated with cell cycle having a sequence taken from 424 sequences (Ss) and sequences complementary to (Ss), is new. Independent claims are also included for the following: (1) an oligomer (II), particularly an oligonucleotide or peptide nucleic acid (PNA)-oligomer, comprising a base sequence having a length of at least 9 nucleotides which hybridizes to or is identical to a CP DNA of genes associated with the cell cycle having a sequence from (Ss); (2) a set of (II), comprising at least two (II); (3) use of a set of oligomer probes (III) for detecting the cytosine methylation state and/or single nucleotide polymorphisms (SNPs) in CP DNA; (4) manufacturing an arrangement of different oligomers (array) fixed to a carrier material for analyzing diseases associated with the methylation state of the CpG dinucleotides of CP DNA, where at least a (II) is coupled to a solid phase; (5) an arrangement of different oligomers (array), obtained by the method (4); (6) ascertaining (M1) genetic and/or epigenetic parameters for the diagnosis and/or therapy of existing diseases or the predisposition to specific diseases by analyzing cytosine methylations, comprising: (a) converting cytosine bases which are unmethylated at the 5-position (in a genomic DNA sample) to uracil or another base which is dissimilar to cytosine in terms of hybridization behavior, by chemical treatment; (b) amplifying fragments of the chemically pretreated DNA using sets of (II) as primers and a polymerase, the amplifies carrying a detectable label; (c) hybridizing the amplificate to a set of (II) or else to a DNA-and/or PNA-array; and (d) detecting the hybridized amplifies; and (7) a kit (IV) comprising a bisulfite (= disulfite, hydrogen sulfite) reagent as well as DNA- and/or PNA-oligomers. - ACTIVITY : Anti-HIV; neuroprotective; immunosuppressive; antitumor; cytostatic; antiarthritic; antiarteriosclerotic. - MECHANISM OF ACTION : Cytosine methylation regulator. No example is given.
机译:一种核酸(I),其包含与细胞周期相关的化学预处理的DNA(CP DNA)片段的18个碱基的序列,该DNA具有选自424个序列(Ss)和与(Ss)互补的序列,是新的。还包括以下方面的独立权利要求:(1)寡聚物(II),特别是寡核苷酸或肽核酸(PNA)-寡聚物,其包含与或与之杂交的具有至少9个核苷酸的长度的碱基序列与细胞周期相关的基因的CP DNA,其具有来自(Ss)的序列; (2)一组(II),包括至少两个(II); (3)使用一组低聚物探针(III)检测CP DNA中的胞嘧啶甲基化状态和/或单核苷酸多态性(SNP); (4)制造固定到载体材料上的不同寡聚物(阵列)的排列,用于分析与CP DNA的CpG二核苷酸的甲基化状态有关的疾病,其中至少一个(II)与固相偶联; (5)通过方法(4)获得的不同的低聚物(阵列)的排列; (6)通过分析胞嘧啶甲基化来确定(M1)用于诊断和/或治疗现有疾病或易患特定疾病的遗传和/或表观遗传参数,包括:(a)转换在5位未甲基化的胞嘧啶碱基(在基因组DNA样品中)通过化学处理合成尿嘧啶或在胞嘧啶方面与胞嘧啶不同的其他碱基; (b)使用(II)组作为引物和聚合酶扩增化学预处理的DNA的片段,所述扩增物带有可检测的标记; (c)使扩增子与一组(II)或与DNA和/或PNA阵列杂交; (d)检测杂交的扩增产物; (7)试剂盒(IV),其包含亚硫酸氢盐(=亚硫酸氢盐,亚硫酸氢盐)试剂以及DNA和/或PNA-低聚物。 -活动:抗艾滋病毒;神经保护免疫抑制抗肿瘤细胞生长抑制剂抗关节炎抗动脉硬化。 -作用机理:胞嘧啶甲基化调节剂。没有给出示例。

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