TILLING: practical single-nucleotide mutation discovery
نویسندگان
چکیده
منابع مشابه
Tp53 Mutation and Single Nucleotide Polymorphism
Mutations in the gene TP53, which codifies the tumor suppressor protein p53, are found in about 50% of tumors. These mutations can occur not only at somatic level, but also in germline. Pediatric cancer patients, mostly with additional family history of malignancy, should be considered as potential TP53 germline mutation carriers. Germline TP53 mutations and polymorphisms have been widely studi...
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Optimizing balance between therapeutic efficacy and the occurrence of adverse events is the main goal of individualized medicine. This takes even more importance in narrow therapeutic index drugs such as immunosuppressants. These drugs are highly effective in preventing acute graft rejection but tacrolimus, cyclosporine and mycophenolic acid show highly variable pharmacokinetics and pharmacodyn...
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Discovery of rare mutations in populations requires methods, such as TILLING (for Targeting Induced Local Lesions in Genomes), for processing and analyzing many individuals in parallel. Previous TILLING protocols employed enzymatic or physical discrimination of heteroduplexed from homoduplexed target DNA. Using mutant populations of rice (Oryza sativa) and wheat (Triticum durum), we developed a...
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We identified approximately 13 000 putative single nucleotide polymorphisms (SNPs) by comparison of repeat-masked BAC-end sequences from the cattle RPCI-42 BAC library with whole-genome shotgun contigs of cattle genome assembly Btau 1.0. Genotyping of a subset of these SNPs was performed on a panel containing 186 DNA samples from 18 cattle breeds including 43 trios. Of 1039 SNPs confirmed as po...
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In the recent past, several publications have appeared in Drug Metabolism and Disposition that described the results of single nucleotide polymorphism (SNP) discovery projects. The publications were limited to only this aspect of the science and failed to include any studies that extended beyond the discovery phase. No attempt was made to elucidate the possible functional significance of the id...
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ژورنال
عنوان ژورنال: The Plant Journal
سال: 2006
ISSN: 0960-7412,1365-313X
DOI: 10.1111/j.1365-313x.2006.02670.x