Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness

Abstract

Arrayed primer extension (APEX) is a microarray-based genotyping method that enables to simultaneously analyze hundreds of known mutations in the genome. APEX-based microarrays are successfully used for molecular diagnostics of various genetic disorders. Congenital stationary night blindness (CSNB) is a rare retinal disease caused by mutations in genes involved in phototransduction cascade and signaling from photoreceptors to adjacent neurons in the retina. As CSNB is clinically and genetically heterogeneous, the identi fication of the underlying cause of the disease can be challenging. In this chapter, we describe an APEX-based method for the analysis of genes associated with CSNB.