Clinical Chemistry Link to Randox Laboratories Web Site
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 48: 2051-2054, 2002;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Supplemental Data
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (23)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Gemignani, F.
Right arrow Articles by Romeo, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gemignani, F.
Right arrow Articles by Romeo, G.
(Clinical Chemistry. 2002;48:2051-2054.)
© 2002 American Association for Clinical Chemistry, Inc.

Technical Briefs

Reliable Detection of ß-Thalassemia and G6PD Mutations by a DNA Microarray

Federica Gemignani1,1, Chiara Perra3,1, Stefano Landi1,2,1, Federico Canzian1, Ants Kurg4, Neeme Tõnisson4,6, Renzo Galanello3, Antonio Cao3, Andres Metspalu4 and Giovanni Romeo1,5a

1 IARC, International Agency for Research on Cancer, 150, Cours Albert Thomas, Lyon 69372, France

2 University of Pisa, Dipartimento di Scienze dell’Uomo e dell’Ambiente, Via S. Giuseppe 22, 56100 Pisa, Italy

3 Dipartimento di Scienze Biomediche e Biotecnologie, Universita’ di Cagliari, Ospedale Regionale Microcitemie, Via Jenner, 09121 Cagliari, Italy

4 Institute of Molecular and Cell Biology, Estonian Biocentre, University of Tartu, 23 Riia Street, 51010 Tartu, Estonia

5 Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Università di Bologna, Policlinico S. Orsola-Malpighi, via Massarenti 9, 40125 Bologna, Italy

6 Asper Biotech, Ltd., 3 Oru St., 51014 Tartu, Estonia

aaddress correspondence to this author at: Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Università di Bologna, Policlinico S. Orsola-Malpighi, via Massarenti 9, 40125 Bologna, Italy; fax 39-051-30-61-71, e-mail romeo@iarc.fr

The first 300 words of the full text of this article appear below.

ß-Thalassemia is an autosomal recessive disorder caused by the absence or reduction of ß-globin chain synthesis. There are >400 million ß-thalassemia carriers worldwide, and >160 ß-thalassemia mutations have been described (1). Different populations exhibit a specific subset of mutations, as in Sardinia, where carriers are ~11% of the population and 95% of them present the ß0 39 mutation (1)(2)(3). In those populations, glucose 6-phosphate dehydrogenase (G6PD) deficiency is also common (4)(5)(6). For the G6PD gene, ~130 mutations or combinations of mutations have been described (7), and early detection might reduce the risk of hemolytic crisis in childhood. A program of screening newborns would be desirable in those populations. The molecular diagnosis of ß-globin and G6PD mutations currently involves a combination of classic methodologies such as restriction fragment length polymorphism analysis, allele-specific oligonucleotide (ASO) hybridization, reverse dot blots, amplification refractory mutation system (ARMS), and direct sequencing (2)(8)(9)(10)(11). These methods are laborious for large-scale screening.

We set up a microarray-based assay for parallel one-shot detection of 17 mutations commonly found in the Mediterranean population: ß+ -101(C->T); ß+ -87(C->G); ß0 codon 6 (-A); ß0 codon 39 (C->T); ß0-IVSI-1 (G->A); ß+-IVSI-6 (T->C); ß+-IVSI-110 (G->A); ß0-IVSII-1 (G->A); ß+-IVSII-745 (C->G); ß+-IVSII-844 (C->G); G6PD A- variant (202G->A; 376A->G); Mediterranean variant (563C->T); Seattle variant (844G->C); Montalbano variant (854G->A); S. Antioco variant (1342A->G); and Maewo (1360C->T). We called this microarray "Thalassochip".

Thalassochip is based on the arrayed primer extension (APEX) technology (12) implemented with allele-specific primed extension (ASPEX) (13). APEX consists of a sequencing reaction primed by an oligonucleotide anchored to . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 CarcinogenesisHome page
S. Zienolddiny, D. Campa, H. Lind, D. Ryberg, V. Skaug, L. B. Stangeland, F. Canzian, and A. Haugen
A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers
Carcinogenesis, June 1, 2008; 29(6): 1164 - 1169.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
D. Campa, A. Tavanti, F. Gemignani, C. S. Mogavero, I. Bellini, F. Bottari, R. Barale, S. Landi, and S. Senesi
DNA Microarray Based on Arrayed-Primer Extension Technique for Identification of Pathogenic Fungi Responsible for Invasive and Superficial Mycoses
J. Clin. Microbiol., March 1, 2008; 46(3): 909 - 915.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
I. Schrijver, M. Kulm, P. I. Gardner, E. P. Pergament, and M. B. Fiddler
Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population
J. Mol. Diagn., April 1, 2007; 9(2): 228 - 236.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
P. Gardner, E. Oitmaa, A. Messner, L. Hoefsloot, A. Metspalu, and I. Schrijver
Simultaneous Multigene Mutation Detection in Patients With Sensorineural Hearing Loss Through a Novel Diagnostic Microarray: A New Approach for Newborn Screening Follow-up
Pediatrics, September 1, 2006; 118(3): 985 - 994.
[Abstract] [Full Text] [PDF]

Home page
 BioinformaticsHome page
D. C. Walley, B. W. Tripp, Y. C. Song, K. R. Walley, and S. J. Tebbutt
MACGT: multi-dimensional automated clustering genotyping tool for analysis of microarray-based mini-sequencing data
Bioinformatics, May 1, 2006; 22(9): 1147 - 1149.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
I. Schrijver, E. Oitmaa, A. Metspalu, and P. Gardner
Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations
J. Mol. Diagn., August 1, 2005; 7(3): 375 - 387.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
F. Gemignani, S. Landi, V. Moreno, L. Gioia-Patricola, A. Chabrier, E. Guino, M. Navarro, M. Cambray, G. Capella, F. Canzian, et al.
Polymorphisms of the Dopamine Receptor Gene DRD2 and Colorectal Cancer Risk
Cancer Epidemiol. Biomarkers Prev., July 1, 2005; 14(7): 1633 - 1638.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
G. Wu, W.-H. Liang, J. Zhu, H. Ouyang, P. Pearson, R. Cai, C. Liao, Q.-H. Mo, D.-L. Zhu, and X.-M. Xu
Rapid, Simultaneous Genotyping of 10 Southeast Asian Glucose-6-Phosphate Dehydrogenase Deficiency-Causing Mutations and a Silent Polymorphism by Multiplex Primer Extension/Denaturing HPLC Assay
Clin. Chem., July 1, 2005; 51(7): 1288 - 1291.
[Full Text] [PDF]

Home page
 BioinformaticsHome page
S. J. Tebbutt, I. V. Opushnyev, B. W. Tripp, A. M. Kassamali, W. L. Alexander, and M. I. Andersen
SNP Chart: an integrated platform for visualization and interpretation of microarray genotyping data
Bioinformatics, January 1, 2005; 21(1): 124 - 127.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by the American Association for Clinical Chemistry.