http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2014303020-A1

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filingDate 2012-08-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ed68cf41a2ce9754ab68e67cea98fe9c
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publicationDate 2014-10-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2014303020-A1
titleOfInvention Method for Assessing Myelodysplastic Syndrome or Myeloid Tumor Predisposition, Polypeptide and Antibody Therefor, and Candidate Screening Method for Therapeutic Drug or Prophylactic Drug Therefor
abstract [Problem] To provide a method for assessing myelodysplastic syndrome or myeloid tumor predisposition, on the basis of a genetic diagnosis 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. n [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 human 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 myelodysplastic syndrome or myeloid tumor when at least one of the following is detected: a substitution from S to F or Y at amino acid 34 of a protein translated 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 Rat amino acid 95 of a protein translated from the SFRS2 gene; or a substitution 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.
priorityDate 2011-08-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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