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Clinical Chemistry 43: 453-457, 1997;
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(Clinical Chemistry. 1997;43:453-457.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

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

Mark Siegelman1, Ajay Mohabeer1, Thomas J. Fahey, III2, Gail Tomlinson3, Chris Mayambala1, Sepideh Jafari1, Walter W. Noll4, Stephen N. Thibodeau5 and D. Brian Dawson1,a

1 Departments of Pathology,
2 Surgery, and
3 Pediatrics, UT Southwestern Medical Center of Dallas, 5323 Harry Hines Blvd., Dallas, TX 75235-9072.

4 Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH.

5 Department of Laboratory Medicine, Mayo Clinic, Rochester, MN.
a Author for correspondence. Fax 214-648-4070; e-mail Dawson01{at}utsw.swmed.edu

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 SystemTM 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.


Key Words: indexing terms: cancer • thyroid disease • heritable disorders • polymerase chain reaction • single-strand conformation polymorphism




The following articles in journals at HighWire Press have cited this article:


Home page
 J. Mol. Diagn.Home page
R. L. Margraf, R. Mao, W. E. Highsmith, L. M. Holtegaard, and C. T. Wittwer
RET Proto-Oncogene Genotyping Using Unlabeled Probes, the Masking Technique, and Amplicon High-Resolution Melting Analysis
J. Mol. Diagn., April 1, 2007; 9(2): 184 - 196.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
R. L. Margraf, R. Mao, W. E. Highsmith, L. M. Holtegaard, and C. T. Wittwer
Mutation Scanning of the RET Protooncogene Using High-Resolution Melting Analysis
Clin. Chem., January 1, 2006; 52(1): 138 - 141.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. Angrist
Does Phaster Mean Better?
Clin. Chem., March 1, 1997; 43(3): 424 - 426.
[Full Text] [PDF]


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Copyright © 1997 by the American Association for Clinical Chemistry.