An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene

Hum Mutat. 1997;9(6):567-74. doi: 10.1002/(SICI)1098-1004(1997)9:6<567::AID-HUMU11>3.0.CO;2-0.

Abstract

The invasion suppressor gene E-CADHERIN (CDH1) is downregulated in a large variety of human carcinomas. Up to now, mutational analysis of the CDH1 gene has been described for 325 tumors derived from only four different tissue types. A simple but sensitive mutation detection assay is needed to screen many more tumor types, possibly bearing E-cadherin inactivating mutations. For that purpose, we developed a multiplex PCR-SSCP analysis for all 16 CDH1 exons. Ease of experimentation was combined with reliable sensitivity. Indeed, the present multiplex analysis reduces the number of manipulations to 50%, while the mutation detection turned out to be highly efficient and sensitive.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cadherins / genetics*
  • DNA Mutational Analysis / methods*
  • DNA Mutational Analysis / statistics & numerical data
  • DNA Primers / genetics
  • Down-Regulation
  • Exons
  • Humans
  • Introns
  • Mutation
  • Neoplasms / genetics
  • Point Mutation
  • Polymerase Chain Reaction / methods*
  • Polymerase Chain Reaction / statistics & numerical data
  • Polymorphism, Single-Stranded Conformational*
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Cadherins
  • DNA Primers