Development of a Molecular Diagnosis Service for Human Diseases: Servicio Tecnologico de Alto Nivel (STAN)-CONICET.

SR LAURITO; M ROQUÉ

SAN LUIS

Congreso; XXVII Reunión Científica Anual de la Sociedad de Biología de Cuyo; 2009

SOCIEDAD DE BIOLOGIA DE CUYO

In March 2009 our group started the conformation of a Molecular Genetic Diagnosis Service for Human Diseases as a Servicio Tecnologico de Alto Nivel (STAN) from a CONICET institute. The objective was to offer a service to the community, by taking benefit from the different molecular strategies which were already setup and running in our research lab. Based on the techniques PCR, Restriction Fragments Polymorphisms, Multiplex Ligation dependent Probe Amplification (MLPA) and direct sequencing, we were able to setup the following diagnosis: -by PCR and automatic sequencing: the detection of point mutations in the ret gene related to Multiple Endocrine Neoplasias and in the K-Ras gene related to sporadic colon cancer; -by MLPA: the detection of deletions and duplications in the DMD gene related to Muscular Dystrophy and the msh2 and mlh1 genes related to Hereditary Colorectal Cancer. Samples from different provinces of Argentina have been analyzed since March. We are convinced that taking benefit from the equipments, the setting up processes and the entrained human resources of basic research labs, an important and useful service can be offered to the community, generating the transference of biotechnological progress to the society.