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Editor-in-chief
Maria Stella Graziani
Deputy Director
Martina Zaninotto
Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali
EIC Assistant
Francesco Busardò
International Advisory Board
Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada
Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano
Responsible Editor
Giuseppe Agosta
Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091
BC: Articoli scritti da F. Borrillo
Glossario di biologia molecolare e biologia molecolare clinica Parte III: diagnostica molecolare
Glossary of molecular biology and clinical molecular biology. Part III: molecular diagnostics
<p>This document is the third and last section of a glossary on molecular biology. In particular, the main categories of the currently available molecular diagnostic procedures, and the related terminology, will be described herein. Based on the availability of more and more sensitive and standardized technologies for the study of DNA/RNA alterations, molecular diagnostic tests are now widely diffused in clinical laboratories, and commonly offered to patients and their families.<br />Aiming to support less experienced readers, the terms related to the main molecular diagnostic procedures and tests are included in this third part of the glossary. For each term the corresponding English version is reported (see also the complete list, both in Italian and in English alphabetical order, reported in the Appendix). In addition, for some of the terms, a link to articles already published in Biochimica Clinica, where they have been used, is reported.</p>
<p>Over 15% of couples worldwide suffer from infertility and in 50% of cases a male factor is found. According to the World Health Organization, sperm analysis is the most appropriate test to assess male infertility. Since quite often, the conventional semen parameters are related to sperm DNA damage, the integration of this evaluation with sperm DNA fragmentation (SDF) could independently predict the sperm reproductive potential. Unfortunately, this analysis has not entered into routine clinical practice. The aim of this review is to discuss the importance of the SDF analysis and its clinical implication and to evaluate the extrinsic and intrinsic factors that affect the DNA fragmentation. In addition, principles and protocols of different methods used to evaluate and quantify the SDF are reviewed; advantages and disadvantages of different methods are reported.</p>
<p>This document represents the second part of a glossary on molecular biology. In particular, the main laboratory techniques for molecular biology are be described. Indeed, recent technological advances made available a number of technologies featured by higher accuracy and sensitivity that are becoming commonly used in routine molecular diagnostics. Aiming to support less experienced readers, the terms related to the main molecular biology techniques are listed herein. For each term the corresponding English version is reported (see also the complete list, both in Italian and in English alphabetical order, reported in the Appendix). In addition, for some of the terms, a link to articles published in Biochimica Clinica, where they have been used, is reported.</p>
<p>This glossary has beenconceived to help readers, who are less experienced with molecular biology, to approach this field of laboratorymedicine, which is gaining increasing importance in the analytical and diagnostic processes. The glossary isorganized into two separate sections: general terms of molecular biology and clinical molecular biology (molecularbiology techniques, and molecular diagnostic testing). For some of the terms, a link to articles published in BiochimicaClinica, where these terms are employed is included. For each term the corresponding English version is reported;in addition, all the entries of the glossary are listed in the Appendix both in Italian and in English alphabetical order.</p>
<p>The preimplantation genetic diagnosis allows to identify genetic disease and chromosomal alterations in early stages of embryonic development, giving the opportunity to overcome the risk of transmitting an inherited disease and to improve the efficiency of in vitro fertilization techniques. In this paper, we provide an overview of indications and of the advantages and limits of techniques used to perform the preimplantation genetic diagnosis. We describe the multiplex-polymerase chain reaction (PCR) and the karyomapping for the genetic diagnosis of inherited disease as well as the comparative genomic hybridization array, the qualitative real-time PCR and the next generation sequencing for the screening of chromosomal aneuploidy.</p>
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