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Genomic and Molecular Diagnostics

The genome of a living organism contains the instructions which regulate its development and function. These instructions are locked up in DNA, a long molecule composed of a sequence of four different chemical elements, called nucleotide bases. The sequence of these bases comprise the genetic information or instructions.

The structural and organizational analysis of the genome represent the first step necessary to gather the information in constructing a physical map of a species and is a fundamental prerequisite for the sequencing of a whole genome. With advances in molecular biology and the concomitant increase in the precision and accuracy of diagnostics, the analysis and understanding of the “genome” has become the focal point in determining the chromosomal regions responsible for qualitative characteristics of an organism.

Furthermore in the last decade, the analysis of DNA has been confirmed as the method of use in clinical work and in the diagnosis of more and more genetic maladies. One sector even more promising for the application in medicine is molecular genetic diagnostics of common pathologies, which usually involve multiple genes, using single nucleotide polymorphism mutations.
Current developed activities are:

· Synthesis, managing and analysis of DNA libraries including:
  • Libraries of high molecular weight in Bacterial Artificial Chromosome
  • Expression libraries
  • Microsatellite libraries
·  Nucleic Acid sequencing;
· Preparation and screening of macroarrays on nylon filter;
·  Microarray analysis;
·  Molecular Diagnostics.
In the field of agrarian genetics Metapontum Agrobios is developing a series of products based on integrated molecular technology, to support work in the genetic improvement of plants, the indentification of new plant varieties and the isolation of genes useful for durum wheat, tomato and grapevines.

In the field of human genetics, Metapontum Agrobios, in collaboration with other structures, including the Basilicata Region Health Board, have initiated a line of research for human diagnostics in order to identify SNPs.
The applied and optimized methods for genetic sequence analysis of PCR products have been shown to be specific and reliable.
As part of this work a Diagnostic Center brochure between the Metapontum Agrobios and the Local Health Board No. 4 (Azienda Sanitaria Locale 4, ASL 4) has been created.
This highly specialized genomic diagnostic centre is responsible for:
· Aiding preventive and predictive medicine;
· Supplying Diagnostic Services ;
· Develop research in the field of genetics for preventative and predictive medicine;
· Offer consultation to third parties in the field of genomics;
· Elaborate research projects for applications to public funding.

Instruments available in the genomics laboratory of Metapontum Agrobios:
· ABI377 automatic sequencer;
· ABI3130 automatic sequencer;
· ABI373 automatic sequencer;
· Beckman workstation robot model Biomek 2000;
· Two 96 well GeneAmp 9700 (Applera) PCR thermocyclers;
· BioRad PFGE apparatus for pulse field electrophoresis;
· Picker Workstation G3 (Genomics Solutions – Perkin Elmer) for colony picking, colony replication, library management;
· Laser Scan Station for microarray glass slides, ScanArray Express (Perkin Elmer).

For more information please contact: Dr. Rosa Anna Cifarelli