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目的分析人外周血白细胞hMSH2基因mRNA外显子13缺失及hMSH2基因ISV12(-6)T>C多态性与散发性结直肠癌的相关性。方法应用RT-PCR技术及PCR技术分别扩增hMSH2基因mRNA和hMSH2基因外显子13,用DNA测序技术测定扩增的hMSH2cDNA序列、IVS12(-6)T>C多态性和外显子13序列。结果 23例结直肠癌样本hMSH2mRNA均出现外显子13缺失的转录本,35例健康对照样本中31例出现hMSH2mRNA外显子13缺失转录本,频率分别为100.0%和88.6%(P>0.05)。23例结直肠癌患者及35例正常对照样本均未发现基因组hMSH2基因外显子13缺失,16例子结直肠癌样本及19例健康对照样本检出ISV12(-6)T>C位点突变,频率分别为69.5%和52.3%(P>0.05)。结论外周血白细胞hMSH2基因mRNA外显子13缺失及IVS12(-6)T>C多态性是人群中是常见的变异,与散发性结直肠癌无相关性,剪接位点ISV12(-6)T>C变异不是导致hMSH2基因mRNA外显子13缺失的原因。
OBJECTIVE: To analyze the association between exon 13 deletion of hMSH2 gene mRNA and ISV12 (-6) T> C polymorphism of hMSH2 gene and sporadic colorectal cancer in human peripheral blood leucocytes. Methods The hMSH2 gene mRNA and exon 13 of hMSH2 gene were amplified by RT-PCR and PCR respectively. The amplified hMSH2 cDNA sequence, IVS12 (-6) T> C polymorphism and exon 13 sequence. Results The exon 13 deletion transcripts were detected in 23 cases of colorectal cancer samples. The deletion of hMSH2 mRNA exon 13 transcripts was found in 31 of 35 healthy controls (frequency 100.0% and 88.6%, respectively) (P 0.05) . 23 cases of colorectal cancer patients and 35 normal control samples were not found genomic hMSH2 exon 13 deletion, 16 cases of colorectal cancer samples and 19 cases of healthy controls were detected ISV12 (-6) T> C site mutation, Frequency was 69.5% and 52.3% (P> 0.05). Conclusions Exon 13 deletion and IVS12 (-6) T> C polymorphism of hMSH2 mRNA in peripheral leukocytes are common mutations in human population and have no correlation with sporadic colorectal cancer. ISV12 (-6) T> C variation is not responsible for deletion of exon 13 of hMSH2 mRNA.