文档介绍：儿童急性淋巴细胞白血病TEL基因微卫星不稳定性检测的临床意义
作者:管洪在王海燕乔宏吴春梅
【关键词】白血病,淋巴细胞;TEL基因;杂合性缺失;聚合酶链反应
[摘要]目的检测12号染色体TEL基因微卫星不稳定性(MSI)和杂合性缺失(LOH)情况,以探讨其与儿童急性淋巴细胞白血病(ALL)发生、发展及预后的关系。方法选取53例初诊儿童ALL作为病例组,15例良性血液病作为病例对照,5例正常儿童作为正常对照。采用多重PCR、聚丙烯酰胺凝胶电泳及银染技术检测了12号染色体上TEL基因附近的4个微卫星位点(D12s89、D12s98、D12s269、D12s358)的MSI和LOH发生情况,并对其中18例病儿进行了初诊、缓解和复发期MSI和LOH情况的检测。结果 %%,其中D12s89位点LOH的发生率最高,%,D12s269位点LOH的发生率最低,%( χ2 =,P <);动态检测其中的18例病儿发现,%,%,%,初诊和复发期各位点LOH的发生率明显高于缓解期( χ2 =、,P <);3例初诊未检测出LOH的病儿,复发期3位点同时检测到LOH;2例病儿在初诊、缓解和复发期均检测到LOH。5例正常对照和15例良性血液病对照均未检测到LOH及MSI的发生。结论 TEL基因与儿童ALL的发生、发展有关,微卫星不稳定性的检测可用于白血病的诊断、鉴别诊断及预后判断,并可作为临床上微小残留白血病的检测方法之一。
[关键词] 白血病,淋巴细胞;TEL基因;杂合性缺失;聚合酶链反应
[ABSTRACT]ObjectiveTo investigate the correlation between TEL gene and the occurrence, progression and prognosis a-cute lymphoblastic leukemia (ALL) in children. MethodsMSI and LOH in 53 children with ALL,15 with benign hematopathies and five normal children were detected by multiplex-PCR amplification at four microsatellites linked to TEL gene on chromosome 12, gel electrophoresis and argentine dye. ResultsLOH in 23 cases (23/53), the frequency of LOH on four microsatellites (D12s89, D12s98, D12s269, D12s358) was %, among those microsatellites, the expression ratio of LOH on D12s89 was the highest (%). Two cases were de