首页> 外国专利> MUTANT NUCLEIC ACID RELATED TO CHRONIC MYELOPROLIFERATIVE DISORDER, AND METHOD OF EVALUATING CHRONIC MYELOPROLIFERATIVE DISORDER

MUTANT NUCLEIC ACID RELATED TO CHRONIC MYELOPROLIFERATIVE DISORDER, AND METHOD OF EVALUATING CHRONIC MYELOPROLIFERATIVE DISORDER

机译:与慢性粒细胞增生性疾病有关的突变型核酸以及评估慢性粒细胞增生性疾病的方法

摘要

A new mutant gene related to the onset of CMPD, particularly, the new mutant gene related to the onset of CMPD in patients who develop CMPD despite of JAK2 V617F -negative, and an evaluation method for evaluating CMPD are provided. By detecting the following mutation in a JAK2 gene or an EPOR gene in a biological sample of human origin, the possibility of CMPD is evaluated. (a) a mutation from G at the 2116 th position to A in a base sequence of SEQ ID NO: 1, (b) a deletion of a nucleotide residue from the 2121 st to 2126 th position in a base sequence of SEQ ID NO: 1, (c) a mutation from C at the 1641 st position to G in a base sequence of SEQ ID NO: 4.
机译:提供了与CMPD的发作有关的新的突变基因,特别是尽管JAK2 V617F阴性而发生CMPD的患者中与CMPD的发作有关的新的突变基因,并且提供了评价CMPD的评价方法。通过在人类来源的生物学样品中检测到JAK2基因或EPOR基因中的以下突变,可以评估CMPD的可能性。 (a)在SEQ ID NO:1的碱基序列中从第2116位的G突变为A;(b)在SEQ ID NO:1的碱基序列中从第2121到2126位的核苷酸残基缺失1:(c)从SEQ ID NO:4的碱基序列中第1641位的C突变为G。

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