Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2. Clin Chem 1996 Apr;42(4):598-603
Date
04/01/1996Pubmed ID
8605678Scopus ID
2-s2.0-0029947339 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
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.
Author List
Blank RD, Sklar CA, Martin MLMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
DNA, Neoplasm
Drosophila Proteins
Electrophoresis, Polyacrylamide Gel
Exons
Humans
Middle Aged
Molecular Sequence Data
Multiple Endocrine Neoplasia Type 2a
Mutation
Nucleic Acid Denaturation
Polymerase Chain Reaction
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
