Custódio A C, Almeida L O, Pinto G R, Santos M J, Almeida J R W, Clara C A, Rey J A, Casartelli C
Laboratório de Oncogenética, Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
Genet Mol Res. 2012 Feb 10;11(1):332-9. doi: 10.4238/2012.February.10.4.
The gene XRCC3 (X-ray cross complementing group 3) has the task of repairing damage that occurs when there is recombination between homologous chromosomes. Repair of recombination between homologous chromosomes plays an important role in maintaining genome integrity, although it is known that double-strand breaks are the main inducers of chromosomal aberrations. Changes in the XRCC3 protein lead to an increase in errors in chromosome segregation due to defects in centrosomes, resulting in aneuploidy and other chromosomal aberrations, such as small increases in telomeres. We examined XRCC3 Thr241Met polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. The individuals of the control group (N = 100) were selected from the general population of the São Paulo State. Odds ratio and 95%CI were calculated using a logistic regression model. Patients who had the allele Met of the XRCC3 Thr241Met polymorphism had a significantly increased risk of tumor development (odds ratio = 3.13; 95% confidence interval = 1.50-6.50). There were no significant differences in overall survival of patients. We suggest that XRCC3 Thr241Met polymorphism is involved in susceptibility for developing astrocytomas and glioblastomas.
基因XRCC3(X射线交叉互补组3)的任务是修复同源染色体之间发生重组时出现的损伤。同源染色体之间重组的修复在维持基因组完整性方面起着重要作用,尽管已知双链断裂是染色体畸变的主要诱导因素。XRCC3蛋白的变化会导致由于中心体缺陷而使染色体分离错误增加,从而导致非整倍体和其他染色体畸变,如端粒的小幅增加。我们使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了80例星形细胞瘤和胶质母细胞瘤样本中的XRCC3 Thr241Met多态性。对照组个体(N = 100)从圣保罗州的普通人群中选取。使用逻辑回归模型计算比值比和95%置信区间。携带XRCC3 Thr241Met多态性Met等位基因的患者肿瘤发生风险显著增加(比值比 = 3.13;95%置信区间 = 1.50 - 6.50)。患者的总生存期无显著差异。我们认为XRCC3 Thr241Met多态性与星形细胞瘤和胶质母细胞瘤的易感性有关。