Use of Single Nucleotide Polymorphism–Based Mapping Arrays to Detect Copy Number Changes and Loss of Heterozygosity in Multiple Myeloma

The genetics of multiple myeloma is a vastly studied field in which techniques such as classical cytogenetics, fluorescence in situ hybridization, and comparative genomic hybridization have been used. More recently, single nucleotide polymorphism (SNP)–based mapping arrays have become available that allow the identification of regions of gain or loss as small as 2.5 kb. In addition to the increased resolution of SNP-based arrays, the detection of loss of heterozygosity is also possible. This allows the identification of loss of heterozygosity regions that arise through monosomy and recombination, resulting in uniparental disomy, which cannot be detected by conventional genetic methods. In this review, we discuss the benefits of SNP-based arrays along with some of the drawbacks and how that data can be used in conjunction with expression data to identify genes with altered expression in regions of interest.