结直肠癌患者肿瘤组织与外周血中MTHFR C677T的多态性及相关性研究

目的 探索外周血代替肿瘤组织进行MTHFR C677T基因多态性检测的可行性.方法 选取首诊为结直肠癌且行根治性手术的患者26例,术前未接受任何化学治疗,应用聚合酶链反应-限制性内切片段长度多态性（PCR-RFLP）方法检测MTHFR C677T的基因多态性,比较外周血及肿瘤组织中相关基因型的一致性.结果 26例结直肠癌患者的肿瘤组织及外周血中MTHFR 677CT基因型、TT基因型、CC基因型一致的病例数分别为7、7、4例.肿瘤组织和外周血中MTHFR C677T的基因型一致率为69.2%.结论 外周血中MTHFR C677T的基因多态性可以反映肿瘤组织中相关基因型的突变.

Research on correlation of the MTHFR C677T genetic polymorphism between tumor tissues and peripheral blood in colorectal cancer patients

Objective To investigate the feasibility of detecting the gene polymorphism of MTHFR C677T in peripheral blood instead of tumor tissues from colorectal cancer patients. Methods 26 patients diagnosed with colorectal cancer, underwent surgical resection without chemotherapy were analyzed. The gene polymorphism of MTHFR C677T was measured in the way of polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method to compare the consistency of related genotype in peripheral blood and tumor tissue. Results The number of MTHFR 677CT,TT,CC genotypes which were accordant in tumor tissues and peripheral blood of 26 colorectal cancer patients were 7,7,4 respectively. The concordance rate of MTHFR C677T genotype in peripheral blood and matched tumor tissues was 69.2%. Conclusion The gene polymorphism of MTHFR C677T in peripheral blood can indirectly reflect the mutation of related genotype in colorectal tumor tissues.