| 发明名称 | 一种用于诊断先天性骨髓衰竭性疾病的试剂盒 | ||
| 摘要 | 本发明涉及一种用于诊断先天性骨髓衰竭性疾病的试剂盒，该试剂盒包括279种经过生物素标记的基因探针组合物，本发明对诊断IBMFS的敏感性及特异性均较高，可用于临床。 | ||
| 申请公布号 | CN103993096A | 申请公布日期 | 2014.08.20 |
| 申请号 | CN201410252472.6 | 申请日期 | 2014.06.09 |
| 申请人 | 中国医学科学院血液病医院（血液学研究所） | 发明人 | 竺晓凡;常丽贤;曾慧敏;魏蔚;安文彬;万扬;阮敏;陈玉梅;杨文钰;陈晓娟 |
| 分类号 | C12Q1/68(2006.01)I;C12N15/11(2006.01)I | 主分类号 | C12Q1/68(2006.01)I |
| 代理机构 | 天津滨海科纬知识产权代理有限公司 12211 | 代理人 | 张会雪 |
| 主权项 | 一种用于诊断先天性骨髓衰竭性疾病的探针组合物，其特征在于：该探针组合物包括如下表1所示的279种经过生物素标记的基因探针：表1<tables num="0001" id="ctbl0001"><table><tgroup cols="8"><colspec colname="c001" colwidth="13%" /><colspec colname="c002" colwidth="12%" /><colspec colname="c003" colwidth="11%" /><colspec colname="c004" colwidth="13%" /><colspec colname="c005" colwidth="12%" /><colspec colname="c006" colwidth="11%" /><colspec colname="c007" colwidth="10%" /><colspec colname="c008" colwidth="18%" /><tbody><row><entry morerows="1">ABCA1</entry><entry morerows="1">ITPKC</entry><entry morerows="1">EPOR</entry><entry morerows="1">RPL5</entry><entry morerows="1">CASP10</entry><entry morerows="1">NOP10</entry><entry morerows="1">FOXO3a</entry><entry morerows="1">TBXAS1</entry></row><row><entry morerows="1">ABCB7</entry><entry morerows="1">JAK2</entry><entry morerows="1">ESCO2</entry><entry morerows="1">RPS10</entry><entry morerows="1">CBL</entry><entry morerows="1">NOTCH3</entry><entry morerows="1">FTL</entry><entry morerows="1">TCAB1</entry></row><row><entry morerows="1">ABCC6</entry><entry morerows="1">KLF4</entry><entry morerows="1">ETV1</entry><entry morerows="1">RPS17</entry><entry morerows="1">CBL2</entry><entry morerows="1">NPM1</entry><entry morerows="1">FXYD2</entry><entry morerows="1">TERC</entry></row><row><entry morerows="1">ABCC8</entry><entry morerows="1">KLHDC8B</entry><entry morerows="1">ETV6</entry><entry morerows="1">RPS19</entry><entry morerows="1">CD36</entry><entry morerows="1">NR3C2</entry><entry morerows="1">G6PD</entry><entry morerows="1">TERT</entry></row><row><entry morerows="1">ABCG5</entry><entry morerows="1">KLKB1</entry><entry morerows="1">EZF</entry><entry morerows="1">RPS24</entry><entry morerows="1">CDAN1</entry><entry morerows="1">NRAS</entry><entry morerows="1">GAS1</entry><entry morerows="1">TET2</entry></row><row><entry morerows="1">ABCG8</entry><entry morerows="1">KNG1</entry><entry morerows="1">EZH2</entry><entry morerows="1">RPS26</entry><entry morerows="1">CETP</entry><entry morerows="1">NT5C3</entry><entry morerows="1">GATA1</entry><entry morerows="1">TF</entry></row><row><entry morerows="1">ADAMTS1</entry><entry morerows="1">KRAS</entry><entry morerows="1">F11</entry><entry morerows="1">RPS37</entry><entry morerows="1">CFH</entry><entry morerows="1">OCT3</entry><entry morerows="1">GFI1</entry><entry morerows="1">THBD</entry></row><row><entry morerows="1">AK1</entry><entry morerows="1">KRG2</entry><entry morerows="1">F12</entry><entry morerows="1">RUNX1</entry><entry morerows="1">CFHR1</entry><entry morerows="1">NHP2</entry><entry morerows="1">GGCX</entry><entry morerows="1">THPO</entry></row><row><entry morerows="1">ALAD</entry><entry morerows="1">KRIT1</entry><entry morerows="1">F13A1</entry><entry morerows="1">SCN4A</entry><entry morerows="1">CFHR3</entry><entry morerows="1">ORAI1</entry><entry morerows="1">GK</entry><entry morerows="1">FOXC2</entry></row><row><entry morerows="1">ALAS2</entry><entry morerows="1">LAMA3</entry><entry morerows="1">F13B</entry><entry morerows="1">SEC23B</entry><entry morerows="1">CFI</entry><entry morerows="1">OTC</entry><entry morerows="1">TBCE</entry><entry morerows="1">TINF2</entry></row><row><entry morerows="1">ALDH2</entry><entry morerows="1">LBR</entry><entry morerows="1">F5</entry><entry morerows="1">SERPINC1</entry><entry morerows="1">CFP</entry><entry morerows="1">EPB42</entry><entry morerows="1">GP1BA</entry><entry morerows="1">TMPRSS6</entry></row><row><entry morerows="1">ALDH4A1</entry><entry morerows="1">LDLR</entry><entry morerows="1">F8</entry><entry morerows="1">SERPINE1</entry><entry morerows="1">CHL1</entry><entry morerows="1">P2RY12</entry><entry morerows="1">GP1BB</entry><entry morerows="1">TNFA</entry></row><row><entry morerows="1">ALDM</entry><entry morerows="1">LIPI</entry><entry morerows="1">F9</entry><entry morerows="1">SERPINF2</entry><entry morerows="1">CHLR1</entry><entry morerows="1">PALB2</entry><entry morerows="1">GP9</entry><entry morerows="1">TNFRSF1A</entry></row><row><entry morerows="1">ALG12</entry><entry morerows="1">LMAN1</entry><entry morerows="1">FAAP100</entry><entry morerows="1">SERPING1</entry><entry morerows="1">CKS2</entry><entry morerows="1">PANK2</entry><entry morerows="1">GSS</entry><entry morerows="1">RPL35a</entry></row><row><entry morerows="1">ALS2</entry><entry morerows="1">LMBRD1</entry><entry morerows="1">FAAP24</entry><entry morerows="1">SF1</entry><entry morerows="1">CLDN16</entry><entry morerows="1">PCCA</entry><entry morerows="1">HAMP</entry><entry morerows="1">TP53</entry></row><row><entry morerows="1">ANK1</entry><entry morerows="1">LPL</entry><entry morerows="1">FAM109A</entry><entry morerows="1">SF3A1</entry><entry morerows="1">CLDN19</entry><entry morerows="1">PCCB</entry><entry morerows="1">HBA1</entry><entry morerows="1">TPP1</entry></row><row><entry morerows="1">APOA1</entry><entry morerows="1">MASTL</entry><entry morerows="1">FANCA</entry><entry morerows="1">SF3b1</entry><entry morerows="1">CPN1</entry><entry morerows="1">PDE4D</entry><entry morerows="1">HBA2</entry><entry morerows="1">TRF1</entry></row><row><entry morerows="1">APOA5</entry><entry morerows="1">MCFD2</entry><entry morerows="1">FANCB</entry><entry morerows="1">SH2D1A</entry><entry morerows="1">CSF3R</entry><entry morerows="1">ITGB3</entry><entry morerows="1">HBB</entry><entry morerows="1">TRF2</entry></row><row><entry morerows="1">APOB</entry><entry morerows="1">MDM2</entry><entry morerows="1">FANCC</entry><entry morerows="1">SLC11A2</entry><entry morerows="1">CST3</entry><entry morerows="1">PLG</entry><entry morerows="1">HBG1</entry><entry morerows="1">TRPM6</entry></row><row><entry morerows="1">ARG1</entry><entry morerows="1">MDS1</entry><entry morerows="1">FANCD1</entry><entry morerows="1">SLC25A38</entry><entry morerows="1">CTC1</entry><entry morerows="1">POT1</entry><entry morerows="1">HBG2</entry><entry morerows="1">TUBB1</entry></row><row><entry morerows="1">ARSA</entry><entry morerows="1">MEFV</entry><entry morerows="1">FANCD2</entry><entry morerows="1">SLC40A1</entry><entry morerows="1">CYB5R3</entry><entry morerows="1">PPOX</entry><entry morerows="1">HCFC2</entry><entry morerows="1">U2AF1</entry></row><row><entry morerows="1">ASXL1</entry><entry morerows="1">MHF1</entry><entry morerows="1">FANCE</entry><entry morerows="1">SLC4A1</entry><entry morerows="1">CYCS</entry><entry morerows="1">PRF1</entry><entry morerows="1">HFE</entry><entry morerows="1">U2AF2</entry></row><row><entry morerows="1">ATAD3B</entry><entry morerows="1">MHF2</entry><entry morerows="1">FANCF</entry><entry morerows="1">SLX4</entry><entry morerows="1">CYP2A6</entry><entry morerows="1">PROC</entry><entry morerows="1">HFE2</entry><entry morerows="1">UBB</entry></row><row><entry morerows="1">ATRX</entry><entry morerows="1">MLH1</entry><entry morerows="1">FANCG</entry><entry morerows="1">SMAD4</entry><entry morerows="1">CYP2C9</entry><entry morerows="1">PROS1</entry><entry morerows="1">HK1</entry><entry morerows="1">UNC13D</entry></row><row><entry morerows="1">B4GALT1</entry><entry morerows="1">MMACHC</entry><entry morerows="1">FANCI</entry><entry morerows="1">SMARCAL</entry><entry morerows="1">CYP4F2</entry><entry morerows="1">PRPF40B</entry><entry morerows="1">HMBS</entry><entry morerows="1">UNC18B</entry></row><row><entry morerows="1">BACH1</entry><entry morerows="1">MMADHC</entry><entry morerows="1">FANCJ</entry><entry morerows="1">SND1</entry><entry morerows="1">DAPK1</entry><entry morerows="1">PTPMT1</entry><entry morerows="1">HOX2F</entry><entry morerows="1">C16orf57</entry></row><row><entry morerows="1">BCAM</entry><entry morerows="1">MPL</entry><entry morerows="1">FANCL</entry><entry morerows="1">SOX2</entry><entry morerows="1">DCLRE1C</entry><entry morerows="1">PTPN11</entry><entry morerows="1">HOXB4</entry><entry morerows="1">VANGL2</entry></row><row><entry morerows="1">BCORL1</entry><entry morerows="1">MSH2</entry><entry morerows="1">FANCM</entry><entry morerows="1">SPTA1</entry><entry morerows="1">ZNF93</entry><entry morerows="1">RAD51C</entry><entry morerows="1">HPD</entry><entry morerows="1">VHL</entry></row><row><entry morerows="1">BLM</entry><entry morerows="1">MTTP</entry><entry morerows="1">FANCN</entry><entry morerows="1">SPTB</entry><entry morerows="1">DNAH2</entry><entry morerows="1">RAG1</entry><entry morerows="1">HRG</entry><entry morerows="1">VKORC1</entry></row><row><entry morerows="1">BMPR1A</entry><entry morerows="1">MYC</entry><entry morerows="1">FAS</entry><entry morerows="1">SRSF2</entry><entry morerows="1">DNAH7</entry><entry morerows="1">RAG2</entry><entry morerows="1">IDH1</entry><entry morerows="1">VWF</entry></row><row><entry morerows="1">ITK</entry><entry morerows="1">MYH9</entry><entry morerows="1">FGA</entry><entry morerows="1">STIM1</entry><entry morerows="1">DNMT3A</entry><entry morerows="1">RAP1</entry><entry morerows="1">IDH2</entry><entry morerows="1">WAS</entry></row><row><entry morerows="1">BRIP1</entry><entry morerows="1">NAGA</entry><entry morerows="1">FKHRL1</entry><entry morerows="1">STN1</entry><entry morerows="1">EGF</entry><entry morerows="1">RARA</entry><entry morerows="1">IKAROS</entry><entry morerows="1">XIAP</entry></row><row><entry morerows="1">ZNF43</entry><entry morerows="1">NBS1</entry><entry morerows="1">FLI1</entry><entry morerows="1">STX11</entry><entry morerows="1">EGLN1</entry><entry morerows="1">RNF55</entry><entry morerows="1">IKBKG</entry><entry morerows="1">XRCC2</entry></row><row><entry morerows="1">BTK</entry><entry morerows="1">NF1</entry><entry morerows="1">FLT4</entry><entry morerows="1">STXBP2</entry><entry morerows="1">EPAS1</entry><entry morerows="1">RPL11</entry><entry morerows="1">IL6</entry><entry morerows="1">ZNRF4</entry></row><row><entry morerows="1">BUB1B</entry><entry morerows="1">NFKBIA</entry><entry morerows="1">FLVCR2</entry><entry morerows="1">TAT</entry><entry morerows="1">EPB41</entry><entry morerows="1">RPL26</entry><entry morerows="1">ITGA2B</entry><entry morerows="1"> </entry></row></tbody></tgroup></table></tables> | ||
| 地址 | 300020 天津市和平区南京路288号 | ||