TY - JOUR
T1 - Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B
AU - Pacheco-Rivera, R. A.
AU - Hernández-Zamora, E.
AU - González-Yebra, B.
AU - Beattie, K.
AU - Maldonado-Rodríguez, R.
AU - Santiago-Hernández, J. C.
AU - De ZáRate Medrano-Ortiz, M. E.
AU - Salcedo, M.
PY - 2011/12
Y1 - 2011/12
N2 - 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 doublestranded 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.
AB - 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 doublestranded 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.
KW - MEN 2B
KW - Mutation
KW - Oligoarray
KW - RET
UR - http://www.scopus.com/inward/record.url?scp=84855704613&partnerID=8YFLogxK
U2 - 10.1007/s10238-010-0128-z
DO - 10.1007/s10238-010-0128-z
M3 - Artículo
C2 - 21253810
SN - 1591-8890
VL - 11
SP - 227
EP - 234
JO - Clinical and Experimental Medicine
JF - Clinical and Experimental Medicine
IS - 4
ER -