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.

Keywords:

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

Notes

*The authors are listed alphabetically and contributed equally to this work.