Article
Predictive testing for multiple endocrine neoplasia type 2A (MEN 2A) based on the detection of mutations in the RET protooncogene.
Surgery - 1 Aug 1994
Chi D D, Toshima K, Donis-Keller H, Wells S A
Abstract excerpt
BACKGROUND: The identification of inherited mutations in the RET protooncogene (RET) associated with multiple endocrine neoplasia type 2A (MEN 2A) has enabled the development of a genetic test to identify asymptomatic carriers of disease. METHODS: Genomic DNA was extracted from 96 members of an MEN 2A kindred. The polymerase chain reaction was used to amplify the RET exon known to contain the associated mutation....
Topics
- Amino Acid Sequence
- Base Sequence
- Drosophila Proteins
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Multiple Endocrine Neoplasia
- Mutation