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目的:探讨儿童胚细胞起源的恶性肿瘤的发生与IGF2和H19基因胚胎印迹缺失(LOI)的关系及肿瘤时这两个基因之间的协同关系。方法:通过PCR-RFLP法和Northernblot法检测包括6例肾母细胞瘤、2例神经母细胞瘤和2例内胚窦瘤在内的10例儿童胚细胞起源的恶性肿瘤中IGF2和H19基因的LOI及H19基因的mRNA表达。结果:①三种肿瘤中均可检测到频发的IGF2基因的LOI,H19基因的LOI相对少见;②肾母细胞瘤中发生IGF2基因LOI的病例全部伴有H19基因mRNA的低水平表达。结论:IGF2基因的LOI与儿童胚细胞起源的恶性肿瘤的发生有密切关系,而这两个基因的相互协同作用可能是肾母细胞瘤发病的重要因素之一。
OBJECTIVE: To investigate the relationship between the occurrence of malignant tumors of embryonic germ cells and the embryonic imprinting loss (LOI) of IGF2 and H19 genes and the synergistic relationship between these two genes during tumorigenesis. Methods: PCR-RFLP and Northern blot were used to detect the expression of IGF2 and H19 genes in 10 cases of blastocyst-derived malignant tumors including 6 cases of Wilms’ tumor, 2 cases of neuroblastoma and 2 cases of endodermal sinus tumors LOI and H19 gene mRNA expression. Results: ①The LOI of IGF2 gene was detected in all three tumors. The LOI of H19 gene was relatively rare. ② The LOI of IGF2 gene in Wilms’ tumor was all associated with the low expression of H19 mRNA. Conclusion: The LOI of IGF2 gene is closely related to the malignant tumor originated from blastocyst in children. The synergistic effect of these two genes may be one of the important factors in the pathogenesis of Wilms’ tumor.