DNA Typing and Testing
DNA typing and testing are techniques that use the characteristics and variations of DNA molecules to identify and distinguish individuals or groups. The principle of DNA typing and testing is based on the structure, replication, recombination, mutation, and other features of DNA molecules, using methods such as PCR, electrophoresis, hybridization, sequencing, etc. to amplify, separate, detect, and analyze specific regions of DNA. The application fields of DNA typing and testing include forensic science, paternity testing, genetic disease diagnosis, personalized medicine, population genetics, evolutionary biology, and so on. DNA typing and testing is a highly sensitive, specific, informative, and widely applicable genetic analysis technique, but it also has problems such as technical complexity, high cost, uncertain results, and ethical controversy. This article will introduce the principles, steps, application, characteristics, advantages, and disadvantages of DNA typing and testing in detail.
Principles and Steps of DNA Typing and Testing
The principle of DNA typing and testing is to use the polymorphic loci in DNA molecules, such as single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), long tandem repeats (LTRs), microsatellites, variable number tandem repeats (VNTRs), etc., to distinguish the genetic characteristics of different individuals or groups. These polymorphic loci are caused by variations in DNA molecules during replication, recombination, mutation and other processes, reflecting the genetic differences and kinship between individuals or groups.
The steps of DNA typing and testing generally include the following:
- Sample collection: According to different purposes and methods, select suitable sample sources, such as blood, saliva, hair, bone, tissue, etc., for collection, preservation and extraction of DNA.
- DNA amplification: Using PCR technology, the target regions in the DNA sample are exponentially amplified to increase the number and signal strength of DNA molecules.
- DNA separation: Using gel electrophoresis technology, according to the size and charge of DNA molecules, the amplified DNA fragments are separated and displayed in the gel.
- DNA detection: Using probe hybridization or sequencing technology, the separated DNA fragments are subjected to specific or comprehensive detection and analysis to determine their base sequence or polymorphism type.
- DNA comparison: Using databases or standard samples, compare and identify the detected DNA results to determine their individual or group identity or relationship.
Applications of DNA Typing and Testing
Forensic science and paternity testing: DNA typing and testing can analyze biological samples left by criminals or victims at crime scenes to determine the identity of suspects or victims, or analyze biological samples between parents and children to determine their kinship. These applications can provide important clues and evidence for case investigation, paternity identification, inheritance, immigration applications, and so on.
Genetic disease diagnosis and personalized medicine: DNA typing and testing can analyze biological samples of patients or family members to discover gene mutations or chromosomal abnormalities related to genetic diseases, or analyze biological samples of patients or normal people to understand their genetic characteristics, drug reactions, disease risks, and so on. These applications can provide guidance and the basis for the diagnosis, prevention, and treatment of genetic diseases or for personalized medical plans and interventions.
Population genetics and evolutionary biology: DNA typing and testing can analyze biological samples of different populations or species, reveal their genetic diversity, kinship, evolutionary history, and so on, or analyze biological samples of ancient or modern organisms, reconstruct the evolutionary tree of life, trace the origin and migration of humans, and so on. These applications can provide data and evidence for biodiversity conservation and evolutionary biology research.
Advantages and Disadvantages of DNA Typing and Testing
The advantages of DNA typing and testing are that they have high sensitivity, strong specificity, a large information content, and a wide application range. It can perform effective and accurate genetic analysis on any source and type of sample, revealing various characteristics and relationships of organisms and meeting the needs of different fields and purposes. For example, DNA typing and testing can help identify criminals or victims in forensic cases, determine kinship in paternity cases, diagnose genetic diseases in medical cases, and study genetic diversity and evolution in biological cases.
The disadvantages of DNA typing and testing are that it is technically complex, costly, uncertain and ethically controversial. It requires professional instruments, reagents, methods and personnel to complete, consuming a lot of time, money and resources. It may produce errors or biases due to various factors such as sample quality, amplification efficiency, hybridization specificity, sequencing accuracy and so on. It involves the privacy, rights, interests and other issues of individuals or groups, which may cause disputes and conflicts in ethical, legal, social and other aspects. For example, DNA typing and testing may reveal unwanted or unexpected information about health, family relationships or ancestry, which may be stressful or upsetting. It may also expose personal or group genetic data to unauthorized use or theft. It may also affect the ability to obtain life, disability or long-term care insurance.
References
- Butler JM. Forensic DNA typing: biology, technology, and genetics of STR markers. 2nd ed. Amsterdam: Elsevier Academic Press; 2005.
- Butler JM. Advanced topics in forensic DNA typing: interpretation. Amsterdam: Elsevier Academic Press; 2015.
- Jobling MA, et al. Human evolutionary genetics: origins, peoples & disease. 2nd ed. New York: Garland Science; 2014.
- Jordan D, et al. Past, present, and future of DNA typing for analyzing human and non-human forensic samples. Front Ecol Evol. 2021;9:646130.
- McCord B, et al. An overview of DNA typing methods for human identification: past, present, and future. Methods Mol Biol. 2019;1874:1-17.
- National Research Council (US) Committee on DNA Technology in Forensic Science. DNA technology in forensic science. Washington (DC): National Academies Press (US); 1992.
- Wang L, et al. Development and application of a PCR-RFLP method for rapid identification of Fusarium oxysporum f.sp cubense race 4 based on the SNPs in the IGS region of rDNA. J Phytopathol. 2019;167(11-12):667-674.