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Diagnostic Value of p53 Tumor Suppressor Gene as Bone Marrow Cell Cycle Marker in Egyptian Children with Inherited Anemia

机译:P53肿瘤抑制基因作为埃及血症血症儿童骨髓细胞周期标记的诊断价值

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Background: Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS). FA has a high predisposition to malignancies. The tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p53 gene mutations are the most frequent genetic event found in human cancers. p53 DNA alteration has not been studied before in Egyptian children with FA. Patients and methods: we investigated p53 DNA in the bone marrow and peripheral blood of thirty children, FA (n=10), acquired aplastic anemia (AAA) (n=10), and normal control (n=10), using real-time PCR by TaqMan probe assay. Results upregulation of p53 DNA was demonstrated in BM of 90% (9/10) of children with FA, compared to 10% (1/10) in AAA (pO.OOl). while, no p53 DNA was seen in control group. A positive correlation between DNA breakage and p53 DNA was seen in FA (p<0.02, r0.81). Conclusion: upregulation of p53 gene in FA may represent an early indicator of significant DNA genetic alteration.
机译:背景:FANCONI贫血(FA)是最常见的遗传性骨髓失败综合征(IBMFS)的代表。 FA对恶性肿瘤有很高的倾向。肿瘤抑制基因P53参与细胞增殖的控制,特别是在应激细胞中。 P53基因突变是人类癌症中最常见的遗传活动。在埃及儿童之前,尚未研究P53 DNA改变。患者和方法:我们研究了三十个儿童的骨髓和外周血中的P53 DNA,FA(n = 10),获得的血栓性贫血(AAA)(n = 10),以及正常对照(n = 10),使用真实 - Taqman探针测定时间PCR。的p53 DNA的结果上调表现在与FA儿童的90%(9/10)BM相比,在AAA 10%(1/10)(pO.OOl)。虽然,对照组没有观察到P53 DNA。在FA(P <0.02,R0.81)中看到DNA断裂和P53 DNA之间的正相关性。结论:FA中P53基因的上调可代表重大DNA遗传改变的早期指标。

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