
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions โ written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Genotyping
Introduction
Genotyping refers to the process of determining the genotype of an individual with a biological assay. Current methods of doing this include PCR, DNA sequencing, and hybridization to DNA microarrays or beads. The technology is intrinsic for test on father/motherhood and in clinical research for the investigation of disease-associated genes.
Due to current technological limitations, almost all genotyping is partial. That is, only a small fraction of an individualโs genotype is determined. New innovations, like the Human-1 BeadChip developed by Illumina promise to provide whole-genome genotyping in the future.
When testing for father-/motherhood, scientists typically only need to look at 10 or 20 genomic regions (like Single nucleotide polymorphism (SNPs) to determine relationship or lack thereof. That is a tiny fraction of the human genome, which consists of three billion or so nucleotides.
When genotyping transgenic organisms, a single genomic region may be all that scientists need to look at to determine the genotype. The mouse is the mammalian model of choice for much of medical research today. A single PCR assay is typically enough to genotype a transgenic mouse. Companies that provide mouse genotyping services include GeneTyper,TransnetYX and Mouse Genotype LLC.
