Genotüpimine

Genotüpimine is the process of determining the genetic makeup of an organism by identifying genetic variants at specific loci or across the genome. The term combines genotype, the genetic constitution of an organism, with the suffix that denotes a process. Genotyping focuses on known variants rather than revealing the entire DNA sequence, unlike full sequencing which provides a complete readout of base pairs.

Common genotyping methods include targeted assays such as allele-specific PCR and TaqMan assays for single nucleotide variants, and SNP genotyping arrays that survey thousands to millions of variants simultaneously. More comprehensive approaches use next-generation sequencing to infer genotypes across the genome, either from targeted regions (exome) or whole genomes. Historically, techniques like restriction fragment length polymorphism (RFLP) and microsatellite analysis paved the development of modern genotyping.

Genotyping is essential in clinical genetics for diagnosing hereditary diseases, pharmacogenomics to tailor drug therapy, and risk assessment. In research, it supports genome-wide association studies, population genetics, and family linkage analyses. In agriculture, it informs marker-assisted selection in breeding; in forensics, it underpins DNA profiling; in ancestry testing, it estimates genealogical relationships.

Limitations include that genotyping detects predefined variants and may miss novel or rare variants. Accuracy depends on sample quality and assay design, and data interpretation requires bioinformatics. Ethical, legal, and privacy considerations apply to genetic information.

See also: genomics, sequencing, SNP, microarray, pharmacogenomics.