Genotyping and Real-Time PCR (qPCR) Information

Scientists employing genotyping analysis are looking to untangle the complex relationships between genotype and phenotype in studies focusing on single nucleotide polymorphisms (SNPs), insertion or deletion polymorphisms (indels), and copy number variants (CNVs).

SNPs are heritable single base pair variations that occur throughout an organism’s genome and are the most common form of genetic variation in humans. SNPs underlie traits such as height, response to drugs, and risk of developing diseases. SNP genotyping can help us understand the mechanisms of disease, predict an individual's risk of developing certain diseases, and even help in the design of personalized therapies.

Indels are defined as the insertion or deletion of a small number of bases in a genome and are the second most common class of mutation in the human genome. Indels can have significant effects on gene expression, causing a frameshift mutation (unless the indel length is a multiple of three), and have been implicated in genetic diseases.  

CNVs are variations in the number of copies of a specific gene between individuals and are found in all humans as well as other animals and plants. CNVs affect a significant portion of the genome (approximately 12% of the human genome) and include deletions, duplications, and other complex genotyping patterns. These CNVs can influence gene expression and be associated with specific phenotypes and diseases, as observed in microdeletion and microduplication syndromes.