Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2
β Scribed by Hall, N.R.; Taylor, G.R.; Finan, P.J.; Kolodner, R.D.; Bodmer, W.F.; Cottrell, S.E.; Frayling, I.; Bishop, D.T.
- Book ID
- 121980162
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 377 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0959-8049
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By means of PCR-SSCP and direct sequencing, we detected 12 germ-line mutations of hMSH2 or hMLH1 in 37 Japanese hereditary non-polyposis colorectal cancer (HNPCC) kindreds, of whom 15 satisfied the Amsterdam and 22 the Japanese criteria. The germ-line mutation detection rate of hMSH2 was much higher
MSH2 rearrangements are involved in approximately 10% of hereditary non-polyposis colorectal cancer (HNPCC) families, and in most of the rearrangements, exon 1 is deleted. We scanned by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) 200 kb of genomic se