These polymorphic sequences act as DNA markers and act as constant landmarks in the genome.
They have profound applications:
By studying DNA polymorphism, one can identify the chromosomal location of mutated genes. This helps in understanding the molecular basis of certain hereditary disorders. For example, mutation in the gene, BRCA1 is responsible for causing breast cancer in women. Thus, with the help of these markers, likelihood of a particular disease can be determined.
DNA polymorphism is also studied to identify its location in the genome. This is done via genome mapping. This is important as those markers that lie close to the diseased genes will be inherited together. Thus, by identifying the DNA marker, the chromosomal location of the diseased gene can be identified, which can be further pinpointed by different methods.
Genetic factors influence the response of the drug, and this study of the response of genetic factors on drugs is known as pharmacogenetics. This helps in preventing certain conditions such as adverse drug reactions, drug toxicity, and therapeutic failure and thus improves therapeutic efficiency. It also helps in understanding the underlying molecular mechanisms of the disease.
Thus, SNP variation studies help us in evaluating the study population phenotype and provide a better knowledge of drug metabolism.
Apart from the above-mentioned applications, DNA polymorphism studies cover a wide range of objectives. It is used to resolve paternity issues by identifying genotypes, helps in forensic studies, evolutionary comparisons and chromosome organization between related species, and many more.
Applications of polymorphism are numerous. Genetic studies have shifted their mainstay from monomorphic to polymorphic studies, especially in the population who have not undergone population bottlenecks in recent history.
Polymorphism can be detected by different methods, which are classified into two classes on the basis of method of detection.
Hybridization-based methods such as RFLP.
PCR-based methods such as RAPD, AFLP (sequence nonspecific techniques), and sequence-specific techniques.
Other methods involve genome sequencing and statistical analysis.
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