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Clinical Chemistry 47: 1939-1944, 2001;
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(Clinical Chemistry. 2001;47:1939-1944.)
© 2001 American Association for Clinical Chemistry, Inc.

Articles

Novel Technique for Scanning of Codon 634 of the RET Protooncogene with Fluorescence Resonance Energy Transfer and Real-Time PCR in Patients with Medullary Thyroid Carcinoma

Agustín Ruiz, Guillermo Antiñolo, Irene Marcos and Salud Borregoa

Unidad de Genética Médica y Diagnóstico Prenatal Hospitales Universitarios Virgen del Rocío, 41013-Seville, Spain.

aAddress correspondence to this author at: Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avda. Manuel Siurot s/n, 41013-Seville, Spain. Fax 34-955-01-3473; e-mail sborrego{at}hvr sas.cica.es

Background: The multiple endocrine neoplasia 2 (MEN 2) syndromes [MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC)] are caused by germline mutations of the RET protooncogene. Because 85% of MEN 2A patients and 30% of FMTC patients have mutations at codon 634, the recommended molecular analyses begin at exon 11, where codon 634 is located.

Methods: We scanned codon 634 of the RET protooncogene with real-time PCR and fluorescence resonance energy transfer (FRET), using a unique pair of internal probes to detect mutations localized at codon 634. We compared results with sequencing results in 66 patients.

Results: The method detected all codon 634 mutations available in our laboratory (Cys634Tyr, Cys634Arg, Cys634Phe, Cys634Trp). Comparing this method with the direct sequencing of exon 11 in a cohort of 66 patients with MTC, the system identified all 14 MTC patients carrying germline mutations at codon 634. One apparent false-positive result occurred among 52 patients.

Conclusions: The simultaneous scanning of multiple mutations is possible with the FRET system. The method allows rapid characterization of germline mutations at codon 634 in MTC patients.




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


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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.
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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]

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S Borrego, R M Fernandez, H Dziema, A Niess, M Lopez-Alonso, G Antinolo, and C Eng
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease
J. Med. Genet., March 1, 2003; 40(3): e18 - 18.
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 J. Clin. Endocrinol. Metab.Home page
A. Gonzalez, E. Abril, A. Roca, M. J. Aragon, M. J. Figueroa, P. Velarde, J. L. Royo, L. M. Real, and A. Ruiz
CAPN10 Alleles Are Associated with Polycystic Ovary Syndrome
J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3971 - 3976.
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