Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2. Academic Article uri icon

Overview

abstract

  • Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer syndrome caused by mutations in the RET protooncogene. Others have already demonstrated the value of genetic testing in known MEN 2 kindreds. Previously described approaches to DNA-level diagnosis, particularly of index cases, are tedious. We developed appropriate denaturing gradient gel electrophoresis (DGGE) conditions for analysis of exons 10, 11, and 16 of this gene, where many of the pathogenic mutations map. We screened 16 members of a three-generation MEN 2 kindred by DGGE and found five affected but still asymptomatic patients, ranging in age from 5 to 67 years. We used DGGE to localize the pathogenic mutations and screen at-risk individuals in several other kindreds. DGGE--which requires no radioactive, fluorescent, or chemiluminescent labeling--is ideally suited to the diagnosis of MEN 2 because of the syndrome's dominant genetics and the rarity of clinically silent variants in the RET gene.

publication date

  • April 1, 1996

Research

keywords

  • DNA Mutational Analysis
  • DNA, Neoplasm
  • Drosophila Proteins
  • Electrophoresis, Polyacrylamide Gel
  • Multiple Endocrine Neoplasia Type 2a
  • Proto-Oncogene Proteins
  • Receptor Protein-Tyrosine Kinases

Identity

Scopus Document Identifier

  • 0029947339

PubMed ID

  • 8605678

Additional Document Info

volume

  • 42

issue

  • 4