CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations
✍ Scribed by Yuri K. Maliaka,Alla P. Chudina,Nicodim F. Belev,Pablo Alday…
- Book ID
- 118291922
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 92 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0340-6717
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Mutations in hMSH2 and hMLH1 genes were analyzed in patients from 11 Japanese families that had been diagnosed as carrying hereditary nonpolyposis colorectal cancer (HNPCC) by clinical examination. Germ line mutations of hMSH2 gene were identified in 5 independent families in which colorectal (87% o
of CpG dinucleotides within the HPRT gene and the fre-Studies of human genetic disorders have suggested that quency of mutations at these sites. 5-methylcytosine moieties in DNA may act as endoge-Germ cell mutations in the X-chromosome HPRT gene nous mutagens due to the increased deamination of C cl
The clinical diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) is based on the Amsterdam II criteria (ACII). The purpose of using the Bethesda guidelines (BG) is to select tumours for microsatellite analysis. Recently, the modified Amsterdam criteria (ACmod) and Bethesda guidelines (BGm