Analysis on deletion of hMSH2 mRNA exon 13 and ISV12 (-6) T>C polymorphism in sporadic colorectal cancer patients / 国际检验医学杂志

ABSTRACT

Objective To investigate the correlation between the deletion of exon 13 of hMSH2 mRNA in peripheral blood leu-kocyte and ISV12(-6) T>C polymorphism with sporadic colorectal cancer .Methods Total RNA and genomic DNA were extracted from peripheral blood of colorectal cancer patients and healthy controls .RT-PCR and PCR were used to amplified the mRNA and exon 13 of hMSH2 gene .The sequences of amplified hMSH2 cDNA ,ISV12(-6) T>C polymorphism and exon 13 sequence were confirmed by DNA sequencing .Results 23 of 23 (100% ) patients and 31 of 35 controls (88 .6% ,P>0 .05) were found to have an hMSH2 truncated transcript caused by a deletion of exon 13 .No deletions of exon 13 in hMSH2 gene were identified in genomic DNA .16 of 23 patients (69 .5% ) and 19 of 35 control (52 .3% ,P>0 .05) were found to have the T >C transition six bases up-stream of exon 13 of hMSH2 .Conclusion Deletion of hMSH2 mRNA exon 13 in peripheral blood leukocyte and the ISV12(-6) T>C polymorphism are common variants in population and have no correlation with sporadic colorectal cancer .The variant of splice site ISV12(-6)T>C is not a reason causing the deletion of hMSH2 mRNA exon 13 .