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Genetic Analyses in Health Laboratories: Current Status and Expectations

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Detection of Non-Amplified Genomic DNA

Part of the book series: Soft and Biological Matter ((SOBIMA))

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Abstract

Genetic analyses performed in health laboratories involve adult patients, newborns, embryos/fetuses, pre-implanted pre-embryos, pre-fertilized oocytes and should meet the major medical needs of hospitals and pharmaceutical companies. Recent data support the concept that, in addition to diagnosis and prognosis, genetic analyses might lead to development of personalized therapy. Novel frontiers in genetic testing involve the development of single cell analyses and non-invasive assays, including those able to predict outcome of cancer pathologies by looking at circulating tumor cells, DNA, mRNA and microRNAs. In this respect, PCR-free diagnostics appears to be one of the most interesting and appealing approaches.

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Abbreviations

ASO:

allele-specific oligonucleotide

EPO:

erythropoietin

ErPC:

erythroid precursor cells

HbA:

adult hemoglobin

HbF:

fetal hemoglobin

HPLC:

high performance liquid chromatography

IVF:

in vitro fertilization

miRNA:

microRNA

ODN:

oligodeoxyribonucleotide

PCR:

polymerase-chain reaction

RT-PCR :

reverse transcription PCR

SCA:

sickle-cell anemia

TOP:

termination of pregnancy

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Acknowledgments

R.G. is granted by Fondazione Cariparo (Cassa di Risparmio di Padova e Rovigo), CIB, by UE ITHANET Project (Infrastructure for the Thalassaemia Research Network), by Telethon (contract GGP07257) and by COFIN-2007. This research is also supported by Associazione Veneta per la Lotta alla Talassemia (AVLT), Rovigo, and by FIRB (The impact of biotechnological innovations on fundamental rights: an interdisciplinary and comparative survey).

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  1. Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassemia, Biotechnology Center, Ferrara University, Via Fossato di Mortara 64/b, 44121, Ferrara, Italy

    Alessia Finotti, Giulia Breveglieri, Monica Borgatti & Roberto Gambari

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  1. Alessia Finotti
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  2. Giulia Breveglieri
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  3. Monica Borgatti
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  4. Roberto Gambari
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Correspondence to Roberto Gambari .

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  1. , Department of Chemical Science, University of Catania, Viale Andrea Doria 6, Catania, 95125, Italy

    Giuseppe Spoto

  2. , Faculty of Science, University of Parma, Parma, 43100, Italy

    Roberto Corradini

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Finotti, A., Breveglieri, G., Borgatti, M., Gambari, R. (2012). Genetic Analyses in Health Laboratories: Current Status and Expectations. In: Spoto, G., Corradini, R. (eds) Detection of Non-Amplified Genomic DNA. Soft and Biological Matter. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-1226-3_1

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