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目的分析中国人家族性结直肠癌错配修复基因大片段变异的特点。方法采用多重连接探针扩增技术,分析32例具有家族史结直肠癌、20例散发性结直肠癌患者错配修复基因MSH2的16个外显子、MLH1的19个外显子及7个其它基因外显子的拷贝数。研究工作包括(1)双盲法分析阴性和阳性对照样本,完成方法学可靠性检验;(2)分析结直肠癌患者外周血细胞DNA,筛查MSH2和MLH1基因大片段变异。结果多重连接探针扩增技术分析系统稳定检出阳性对照样本的DNA大片段缺失;在3/32(9.4%)具有家族聚集性结直癌患者中检出遗传性MSH2基因DNA大片段缺失。而在20例散发性结直肠癌患者未检出这类突变。结论中国人家族性结直肠癌患者中错配修复基因的大片段变异是频发事件,对此类患者的遗传检测应包含错配修复基因大片段变异的筛查。
OBJECTIVE: To analyze the characteristics of large variation of the mismatch repair gene in Chinese familial colorectal cancer. Methods Sixteen exons of mismatch repair gene MSH2 in 32 patients with family history of colorectal cancer and 20 patients with sporadic colorectal cancer, 19 exons of MLH1 and 7 The copy number of exons of other genes. Research work included (1) double-blind analysis of negative and positive control samples to complete the methodological reliability test; (2) analysis of colorectal cancer patients with peripheral blood DNA, screening MSH2 and MLH1 gene large fragment variation. Results Multiplexed probe amplification assay was used to detect the presence of large DNA fragments in positive control samples stably. Large DNA deletion of hereditary MSH2 gene was detected in 3/32 (9.4%) patients with familial congregation of colorectal cancer. However, no such mutations were detected in 20 patients with sporadic colorectal cancer. Conclusion The large fragment variation of mismatch repair gene in Chinese patients with familial colorectal cancer is a frequent event. Genetic testing of such patients should include screening for large variation of mismatch repair genes.