title: An overview of current microarray-based human globin gene mutation detection methods.
abstract: 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.
authors.affiliation: Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
authors.forename: Thessalia
authors.initials: T
authors.lastname: Papasavva
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
mesh_terms: D004252:DNA Mutational Analysis / Q000191:economics / Q000295:instrumentation / Q000379:methods*; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis / Q000191:economics / Q000295:instrumentation / Q000379:methods*
chemical_list: D005914:Globins