Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.48 (transcriptase)
 9,479 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Blood samples from 47 unselected patients with colorectal cancer were used as a source of hMSH2 mRNA. We identified three new hMSH2 aberrant mRNAs including: 1) IVS15 +5 G-->C resulting in exon 15 skipping from transcript; 2) an mRNA deletion of exons 2 to 6 inclusive; and 3) an mRNA deletion of exons 2 to 8 inclusive. In order to find out whether or not exon skipping is a natural consequence of alternative mRNA splicing, total RNA from 20 healthy individuals was converted to cDNA by reverse-transcriptase polymerase chain reaction, and our results show that none of the healthy individuals have the above aberrant mRNA. Our results also show that the presence of mutations in colorectal cancer cases, which do not fully meet the hereditary non-polyposis colon cancer criteria, would suggest that all familial cases should be investigated for germ line mutations in the mismatch repair genes.
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PMID:Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland. 1107 94