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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year


IMPACT FACTOR 2016: 3.432

CiteScore 2016: 2.21

SCImago Journal Rank (SJR) 2016: 1.000
Source Normalized Impact per Paper (SNIP) 2016: 1.112

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1437-4331
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Volume 48, Issue 12 (Dec 2010)

Issues

ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia

Christos Shammas
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Thessalia Papasavva
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xenia Felekis
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Christos Christophorou
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Hanno Roomere / Jan Traeger Synodinos / Emmanuel Kanavakis / Mohammed El-Khateeb / Hanan Hamamy / Tamara Mahmoud / Mohammad Shboul / Amal El Beshlawy / Dvora Filon / Ibtessam R. Hussein
  • Center of Excellence for Genome Research in Medicine, King AbdulAziz University, Jeddah, Saudi Arabia
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  • De Gruyter OnlineGoogle Scholar
/ Renzo Galanello / Giovanni Romeo / Marina Kleanthous
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Published Online: 2010-08-13 | DOI: https://doi.org/10.1515/CCLM.2010.331

Abstract

Background: The detection and diagnosis of β-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that can deliver large scale genetic detection. We report on the update and validation of the ThalassoChip, a β-thalassaemia genetic diagnostic tool which is based on arrayed primer extension (APEX) technology.

Methods: ThalassoChip slides with new and redesigned probes were prepared for testing the microarray. Six hundred and sixty DNA samples collected from eight Mediterranean countries were used for standardisation, optimisation and validation of the ThalassoChip. The β-globin gene region was amplified by PCR, the products were hybridised to the probes after fragmentation and the APEX reaction followed.

Results: The ThalassoChip was updated with new probes and now has the ability to detect 57 β-globin gene mutations and three single nucleotide polymorphisms (SNPs) in a single test. The ThalassoChip as well as the PCR and APEX reactions were standardised and optimised using 500 DNA samples that were previously genotyped using conventional diagnostic techniques. Some probes were redesigned in order to improve the specificity and sensitivity of the test. Validation of the ThalassoChip performed using 160 samples analysed in blinded fashion showed no error.

Conclusions: The updated version of the ThalassoChip is versatile, robust, cost-effective and easily adaptable, but most notably can provide comprehensive genetic diagnosis for β-thalassaemia and other haemoglobinopathies.

Clin Chem Lab Med 2010;48:1713–8.

Keywords: arrayed primer extension technology; diagnostic test; microarrays; thalassaemia

About the article

Corresponding author: Marina Kleanthous, PhD, Head, Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., Ag. Dhometios, P.O. Box 23462, Nicosia, Cyprus Phone: +357 22392652, Fax: +357 22392615,


Received: 2010-03-02

Accepted: 2010-05-09

Published Online: 2010-08-13

Published in Print: 2010-12-01


Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2010.331.

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©2010 by Walter de Gruyter Berlin New York. Copyright Clearance Center

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