Disease detection by digital protein truncation assays
作者： C. Giovanni Traverso , Kenneth W. Kinzler , Bert Vogelstein
DOI:
关键词: Disease detection 、 DNA 、 Protein Truncation 、 Biology 、 Mutant allele 、 Molecular biology 、 COLD-PCR 、 Gene 、 Genetics 、 Allele
摘要: Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays used to detect gene products truncation-type mutations. However, the sensitivity is often insufficient present a sample DNA at low frequency. Sensitivity increased dividing samples so that signal generated mutant allele comprises larger fraction total alleles than prior dividing. Thus previously undetectable become detectable assay. Such permits early stages and having high levels other alleles.
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