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The laboratory of epigenetics and genotyping of the Central Unit for Research in Medicine of the University of Valencia was created in December 2007. The Epigenetics and Genotyping platform, by the combination of the biochemistry extension of oligonucleotides and the technique Maldi-Tof of mass spectrometry, allows the development of different studies in the fields of genetics, molecular biology and pharmacogenetics.

With the use of MassARRAY Compact platform of the AGENA firm, this laboratory is responsible for the study with research purposes, of samples of biological type from the area of biomedicine through the mapping of DNA sequences, as well as the analysis of methylation phenomena.

The analysis of simple mutations of DNA (SNP) has become in recent years an essential tool for the diagnosis of diseases and disorders with a hereditary component. The predisposition to suffer certain diseases is strongly influenced by the genetic profile of the individual. Therefore, recently it have been made large-scale studies of the SNP pattern in the study of cancer, the viability of organ transplants, Alzheimer, etc.

On the other hand, the degree of DNA methylation is an essential part of the recently famous epigenetics. Epigenetics refers to the reversible changes in DNA that causes that certain genes are expressed or not depending on external conditions. The epigenetic layer of information in the DNA is crucial for development, growth, aging and cancer. It doesn’t alter the DNA sequence, although it influences in its expression and, certainly can affect to health. The “epimutations” are, according to some theories, the origin of some diseases such as schizophrenia, whereas the epigenetic changes explain, for example, the discordances between identical tweens that have identical DNA sequences.

Similarly, this laboratory is responsible for the determination of somatic mutations present in samples of carcinogenic origin. The Oncofocus © technology offers a panel that allows the analysis of more than 250 mutations present in most tumors with special attention to lung, breast, colon and melanoma cancer. Its high precision and sensitivity allows knowing the genetic profile of the tumor sample even when the mutation has a presence below 1%.


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