PMID: 18209889Jan 23, 2008Paper

Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE)

Arquivos brasileiros de endocrinologia e metabologia
Marcelo A C G dos SantosSergio Pereira de A Toledo

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (approximately 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized.

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Citations

Jan 19, 2010·The Journal of Clinical Endocrinology and Metabolism·Rodrigo A ToledoSergio P A Toledo
Oct 24, 2019·Arquivos Brasileiros De Cirurgia Digestiva : ABCD = Brazilian Archives of Digestive Surgery·Abdolhamid AmooeeHossein Neamatzadeh

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