A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy

Mol Cell Probes. 1999 Feb;13(1):77-9. doi: 10.1006/mcpr.1998.0220.


A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two other individuals also had the mutant sequence and FMTC. Analysis of both cases showed cosegregation of the mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creates a Hha I recognition site in the presence of the mutant sequence. As a result, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution*
  • Carcinoma, Medullary / genetics*
  • Codon / genetics
  • DNA / blood
  • DNA / genetics
  • DNA Mutational Analysis / methods*
  • DNA Primers*
  • Deoxyribonucleases, Type II Site-Specific*
  • Drosophila Proteins*
  • Exons / genetics
  • Female
  • Genetic Testing / methods*
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-ret
  • Proto-Oncogenes*
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Thyroid Neoplasms / genetics*


  • Codon
  • DNA Primers
  • Drosophila Proteins
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • DNA
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila
  • Deoxyribonucleases, Type II Site-Specific
  • GCGC-specific type II deoxyribonucleases