Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2 Journal Article
| Authors: | Blank, R. D.; Sklar, C. A.; Martin, M. L. |
| Article Title: | Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2 |
| 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. |
| Keywords: | adolescent; adult; child; clinical article; human tissue; aged; child, preschool; middle aged; human cell; exon; mutation; exons; proto-oncogene proteins; diagnostic accuracy; polymerase chain reaction; genetic variability; mutational analysis; gene mapping; dna; molecular sequence data; diagnostic value; dna, neoplasm; base sequence; nucleic acid denaturation; thyroid neoplasms; receptor protein-tyrosine kinases; dna mutational analysis; genetic risk; drosophila proteins; proto-oncogene proteins c-ret; dna determination; gene location; electrophoresis, polyacrylamide gel; multiple endocrine neoplasia; denaturing gradient gel electrophoresis; humans; human; article; hirschsprung disease; neurocristopathy; multiple endocrine neoplasia type 2a |
| Journal Title: | Clinical Chemistry |
| Volume: | 42 |
| Issue: | 4 |
| ISSN: | 0009-9147 |
| Publisher: | American Association for Clinical Chemistry |
| Date Published: | 1996-04-01 |
| Start Page: | 598 |
| End Page: | 603 |
| Language: | English |
| PUBMED: | 8605678 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 22 November 2017 -- Source: Scopus |
