RET mutations were available for analysis, a recent systematic study of high-resolution melting detection of heterozygous point mutations within a PCR amplicon found a sensitivity and specificity of 100% for amplicons

نویسندگان

  • Carl T. Wittwer
  • Karl Voelkerding
  • Maria Erali
چکیده

derivative curves overlapped. Although not all pathogenic RET mutations were available for analysis, a recent systematic study of high-resolution melting detection of heterozygous point mutations within a PCR amplicon found a sensitivity and specificity of 100% for amplicons 400 bp in size (15 ). High-resolution melting analysis for mutation scanning is a rapid (1–2 min after PCR), costeffective assay that requires no processing or separation steps. As applied to RET mutation scanning, accuracy of heterozygote detection appears to be 100%, and some (but not all) sequence variations can be distinguished from each other. Because samples are immediately available for further processing after high-resolution melting analysis, the detected variant samples can be sequenced for confirmation of genotype.

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تاریخ انتشار 2005