An overview of current microarray-based human globin gene mutation detection methods

Laura Cremonesi, Maurizio Ferrari, Piero C. Giordano, Cornelis L. Harteveld, Marina Kleanthous, Thessalia Papasavva, George P. Patrinos, Joanne Traeger-Synodinos

Research output: Contribution to journalArticlepeer-review


□ The panoply of human globin gene mutation detection methods could become significantly enriched with the advent of microarray-based genotyping platforms. The aim of this article is to provide an overview of the current medium and high-throughput microarray-based globin gene mutation detection platforms, namely the microelectronic array, the "thalassochip" arrayed primer extension (APEX) technology and the single base extension methods. This article also outlines an emerging method based on multiple ligation probe amplification (MLPA) and discusses the implications of customized solutions for resequencing of genomic loci in relation to molecular genetic testing of hemoglobinopathies.

Original languageEnglish
Pages (from-to)289-311
Number of pages23
Issue number3
Publication statusPublished - Jul 2007


  • Arrayed primer extension (APEX)
  • Globin genes
  • Microarray
  • Microelectronic microchip
  • Multiple ligation probe amplification (MLPA)
  • Mutation detection
  • Resequencing
  • Thalassochip

ASJC Scopus subject areas

  • Hematology
  • Biochemistry


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