Abstract |
The most important mutation associated with Multiple Endocrine Neoplasia type 2B ( MEN 2B) is the change of thymine to cytosine in codon 918 of exon 16 in the RET oncogene (ATG → ACG). The aim of this work was to develop a single oligoarray by using tandem hybridization to detect the T918C/RET mutation for MEN 2B patients. Two genetically non-related families were studied; each family had a member affected by MEN2B. Both patients presented the T918C/RET mutation in a heterozygous fashion. None of the relatives was positive for this mutation; thus, these cases arose de novo. The proper mutation was confirmed by with different tools, PCR-Fok I endonuclease, direct sequencing, and also using our oligoarray. In this case, it is suitable to use a DNA target smaller than 150 bases with single- or double-stranded DNA and short probes of 7-mer. It was also possible to detect the mutation by employing different sources of DNA, fresh or paraffin-embedded tissues. Therefore, the present oligoarray can identify the most common M918T mutation of RET oncogene from a variety of DNA sources with good specificity and be a good alternative in the molecular diagnosis for MEN 2B cases.
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Authors | R A Pacheco-Rivera, E Hernández-Zamora, B González-Yebra, K Beattie, R Maldonado-Rodríguez, J C Santiago-Hernández, M E Medrano-Ortiz de Zárate, M Salcedo |
Journal | Clinical and experimental medicine
(Clin Exp Med)
Vol. 11
Issue 4
Pg. 227-34
(Dec 2011)
ISSN: 1591-9528 [Electronic] Italy |
PMID | 21253810
(Publication Type: Evaluation Study, Journal Article)
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Chemical References |
- Proto-Oncogene Proteins c-ret
- RET protein, human
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Topics |
- Adolescent
- Child
- Female
- Humans
- Male
- Molecular Diagnostic Techniques
(methods)
- Multiple Endocrine Neoplasia Type 2b
(diagnosis, genetics)
- Mutation, Missense
- Oligonucleotide Array Sequence Analysis
(methods)
- Proto-Oncogene Proteins c-ret
(genetics)
- Sensitivity and Specificity
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