结直肠癌PINCH基因单核苷酸多态性的小样本检测

Screening of Single Nucleotide Polymorphisms of PINCH Gene in Patients with Colorectal Cancer

目的筛选结直肠癌患者PINCH基因单核苷酸多态性(SNP)位点,初步探讨PINCH基因SNP与结直肠癌相关性,为后续结直肠癌风险预测提供参考。方法抽提36例结直肠癌患者和30例非结直肠癌人群外周血单个核细胞DNA;同时对术中采集的配对的36例正常黏膜组织匀浆后提取DNA。对PINCH基因外显子区进行PCR扩增并对产物进行测序分析。结果 PINCH基因外显子区域内共筛查出10个SNP,其中rs74632558的SNP基因型在结直肠癌和非结直肠癌人群之间有差异,但无统计学意义,同时发现了3个未登陆的SNP。结论 PINCH基因外显子区rs74632558 SNP可能与结直肠癌发生有一定关系。

Objective To screen single nucleotide polymorphisms（SNPs）of PINCH gene exon region in colorectal cancer（CRC）,and explore the correlation of PINCH gene SNPs and CRC,so as to provide a basis for further screening of suitable SNPs labeling to forecast risk of CRC.Methods DNA was extracted from peripheral blood mononuclear cells（PBMCs）from 36 patients with primary CRC and 30 healthy individuals,matched DNA of distant normal mucosa from these CRC patients was isolated as well.Ten exons of PINCH gene were amplified by PCR.The products were analysed by DNA sequencing.Results Total ten SNPs were found in the exon of PINCH gene,in which,rs74632558 genotype was slightly different between CRC cancer patients and non-CRC controls.Three unregistered SNPs were also found located in exon 2,exon 5 and exon 6 separately.Conclusion PINCH gene polymorphisms,especially rs74632558,maybe associated with the risk of developing CRC.