caa a22 4500 445354798 CHVBK 20180317142856.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10238-010-0128-z doi (NATIONALLICENCE)springer-10.1007/s10238-010-0128-z Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B [Elektronische Daten] [R. Pacheco-Rivera, E. Hernández-Zamora, B. González-Yebra, K. Beattie, R. Maldonado-Rodríguez, J. Santiago-Hernández, M. Medrano-Ortiz de Zárate, M. Salcedo] 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. Springer-Verlag, 2011 Oligoarray nationallicence Mutation nationallicence MEN 2B nationallicence RET nationallicence Pacheco-Rivera R. Laboratorio de Diagnóstico Molecular, ENCB IPN, México city, México aut Hernández-Zamora E. Servicio de Genética, Instituto Nacional de Rehabilitación, México city, México aut González-Yebra B. Departamento de Biología Molecular, Universidad de Guanajuato, Guanajuato city, México aut Beattie K. Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, TN, USA aut Maldonado-Rodríguez R. Laboratorio de Biotecnología y Bioinformática Molecular, ENCB IPN, México city, México aut Santiago-Hernández J. Laboratorio de Biotecnología y Bioinformática Molecular, ENCB IPN, México city, México aut Medrano-Ortiz de Zárate M. Servico de Endocrinologia, Hospital de Oncologia, CMN SXXI IMSS, México city, México aut Salcedo M. Laboratorio de Oncología Genómica, UIMEO-CMN SXXI, IMSS, México city, México aut Clinical and Experimental Medicine Springer Milan 11/4(2011-12-01), 227-234 1591-8890 11:4<227 2011 11 10238 https://doi.org/10.1007/s10238-010-0128-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10238-010-0128-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pacheco-Rivera R. Laboratorio de Diagnóstico Molecular, ENCB IPN, México city, México aut NATIONALLICENCE 700 1- Hernández-Zamora E. Servicio de Genética, Instituto Nacional de Rehabilitación, México city, México aut NATIONALLICENCE 700 1- González-Yebra B. Departamento de Biología Molecular, Universidad de Guanajuato, Guanajuato city, México aut NATIONALLICENCE 700 1- Beattie K. Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, TN, USA aut NATIONALLICENCE 700 1- Maldonado-Rodríguez R. Laboratorio de Biotecnología y Bioinformática Molecular, ENCB IPN, México city, México aut NATIONALLICENCE 700 1- Santiago-Hernández J. Laboratorio de Biotecnología y Bioinformática Molecular, ENCB IPN, México city, México aut NATIONALLICENCE 700 1- Medrano-Ortiz de Zárate M. Servico de Endocrinologia, Hospital de Oncologia, CMN SXXI IMSS, México city, México aut NATIONALLICENCE 700 1- Salcedo M. Laboratorio de Oncología Genómica, UIMEO-CMN SXXI, IMSS, México city, México aut NATIONALLICENCE 773 0- Clinical and Experimental Medicine Springer Milan 11/4(2011-12-01), 227-234 1591-8890 11:4<227 2011 11 10238 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer