CAJ | 학술논문

目的探讨MPLexon10突变在JAK2V617F阴性骨髓增殖性肿瘤(MPN)中的发生情况.方法对235例MPN患者进行JAK2 V617F检测,对检出的103例阴性患者应用等位基因特异性聚合酶链反应(ASP-PCR)联合测序检测MPL exon10已知基因突变MPLW515K/L;应用DNA单链构象多态性聚合酶链反应(SSCP-PCR)联合测序检测MPL exon10未知突变.结果 103例JAK2 V617F阴性MPN患者中MPLW515K/L检出1例MPLW515K(TGG→AAG),为原发性骨髓纤维化(PMF)患者;MPLexon10未知突变检测发现1例原发性血小板增多症(ET)患者存在新的突变类型,即MPL核苷酸1491-1492位之间插入12个碱基(CTGGTGATCGCT),且为纯合突变.结论 JAK2 V617F阴性MPN患者在MPL基因exon10区域内除已知W515K/L突变外尚存在新的突变位点,但突变率较低.
목적 탐토MPLexon10돌변재JAK2V617F음성골수증식성종류(MPN)중적발생정황.방법 대235례MPN환자진행JAK2 V617F검측,대검출적103례음성환자응용등위기인특이성취합매련반응(ASP-PCR)연합측서검측MPL exon10이지기인돌변MPLW515K/L;응용DNA단련구상다태성취합매련반응(SSCP-PCR)연합측서검측MPL exon10미지돌변.결과 103례JAK2 V617F음성MPN환자중MPLW515K/L검출1례MPLW515K(TGG→AAG),위원발성골수섬유화(PMF)환자;MPLexon10미지돌변검측발현1례원발성혈소판증다증(ET)환자존재신적돌변류형,즉MPL핵감산1491-1492위지간삽입12개감기(CTGGTGATCGCT),차위순합돌변.결론 JAK2 V617F음성MPN환자재MPL기인exon10구역내제이지W515K/L돌변외상존재신적돌변위점,단돌변솔교저.
Objective To explore the frequencies of MPL exon 10 mutations in JAK2 V617F-negative myeloproliferative neoplasms patients. Methods MPLW515K/L was processed through allele-specific PGR combined with direct sequence analysis. The mutations of others MPL exon 10 were detected by single strand conformation polymorphism PGR (PCR-SSCP) combined with direct sequencing. Results Of the 103 patients with JAK2 V617F-negtive myeloproliferative neoplasms patients, 1 carried MPLW515K mutation (TGG→AAG)in PMF; 1 was found to have new mutation (CTGGTGATCGCT insert) in ET and have homozygous mutation. Conclusion JAK2 V617F-negtive myeloproliferative neoplasms patients carried additional mutations in addition to W515K/L mutations in MPL exon 10, but its frequency of mutation is low.