Jump to ContentJump to Main Navigation
Show Summary Details

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 increased in 2015: 3.017
Rank 5 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982
Impact per Publication (IPP) 2015: 2.238

Online
ISSN
1437-4331
See all formats and pricing
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
/ Thessalia Papasavva
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
/ Xenia Felekis
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
/ Christos Christophorou
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
/ Hanno Roomere
  • Asper Biotech Ltd., Tartu, Estonia
/ Jan Traeger Synodinos
  • Department of Medical Genetics, Athens University Medical School, Athens, Greece
/ Emmanuel Kanavakis
  • Department of Medical Genetics, Athens University Medical School, Athens, Greece
/ Mohammed El-Khateeb
  • National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman, Jordan
/ Hanan Hamamy
  • National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman, Jordan
/ Tamara Mahmoud
  • National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman, Jordan
/ Mohammad Shboul
  • National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman, Jordan
/ Amal El Beshlawy
  • Hematology Department of the Pediatric Hospital, Cairo University, Cairo, Egypt
/ Dvora Filon
  • Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
/ Ibtessam R. Hussein
  • Center of Excellence for Genome Research in Medicine, King AbdulAziz University, Jeddah, Saudi Arabia
/ Renzo Galanello
  • Department of Science, Biomedicine and Biotechnology, University of Cagliari, Cagliari, Italy
/ Giovanni Romeo
  • European Genetic Foundation, Bologna, Italy
/ Marina Kleanthous
  • Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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. Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Adekunle D. Adekile, Asma F. Azab, Sondus I. Al-Sharida, Bahia A. Al-Nafisi, Nagihan Akbulut, Rajaa A. Marouf, and Nada Y. Mustafa
Hemoglobin, 2015, Page 1
[2]
Lisa Hui and Diana W. Bianchi
Trends in Genetics, 2013, Volume 29, Number 2, Page 84
[3]
Wakako Suzuki, Takashi Osaka, Akihiko Sekizawa, Michihiro Kitagawa, and Ikuo Honma
International Journal of Hematology, 2012, Volume 96, Number 3, Page 301

Comments (0)

Please log in or register to comment.
Log in