Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma

Mark Siegelman, Ajay Mohabeer, Thomas J. Fahey, Gail Tomlinson, Chris Mayambala, Sepideh Jafari, Walter W. Noll, Stephen N. Thibodeau, D. Brian Dawson

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Germline mutations in exons 10, 11, and 16 of the RET protooncogene are associated with the heritable cancer syndromes multiple endocrine neoplasia (MEN) type 2A, familial medullary thyroid carcinoma (FMTC), and MEN type 2B. Nonradioactive mutation analysis with nondenaturing Phastgels® and the Phast System® was performed on DNA amplified by the polymerase chain reaction from exons 10, 11, and 16 of the RET protooncogene from patients with MEN 2A, MEN 2B, or FMTC. The analysis requires ~45-90 min for electrophoresis and 35 min for staining. This assay detected 20 of 21 different mutations that represented ~90% of all known mutations associated with these lesions. A rare silent polymorphism within exon 10 was also detected. This form of mutation analysis provides simple, rapid, and highly sensitive nonradioactive detection of mutations known to be associated with MEN 2A, FMTC, and MEN 2B.

Original languageEnglish (US)
Pages (from-to)453-457
Number of pages5
JournalClinical chemistry
Volume43
Issue number3
StatePublished - Mar 17 1997

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Keywords

  • cancer
  • heritable disorders
  • polymerase chain reaction
  • single-strand conformation polymorphism
  • thyroid disease

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Siegelman, M., Mohabeer, A., Fahey, T. J., Tomlinson, G., Mayambala, C., Jafari, S., Noll, W. W., Thibodeau, S. N., & Dawson, D. B. (1997). Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clinical chemistry, 43(3), 453-457.