Single nucleotide polymorphisms (SNPs)

Single nucleotide polymorphisms (SNPs) and its sequencing

Single nucleotide polymorphisms (SNPs) refers to variations between one individual and another in their whole genome. SNPs is pronounced as ‘snips’. The human genome is made up DNA that contains DNA bases whose composition is nucleotides such as A, G, C and T. 99% of the human genome is similar but there arises a 1% difference amongst individuals which contributes to the differences between individuals that we see and that is what is known as polymorphism. An example of SNP is when within the same locations of the human genome, one individual may have the nucleotide Adenine (A) while another has Guanine (G).

SNPs occur all through within the human genome. Experts have alluded to the fact there are about 4 to 5 million SNPs within an individual but have documented over 100 million SNPs globally. As SNPs occur within the genes of people or at regulatory regions of genes, they may impact the role of the gene in a disease process by altering the function of the gene. As such, SNPs act as biological markers whereby scientist can use them to denote genes that play a role in disease processes.

Significance of SNPs

We entrust the use of SNPS in various capacities in our dispensing of medical services and use the technology to document your SNP sequence which is of importance. Majority of the documented SNPs have no impact on development and health. Scientists have however pointed out SNP sequencing as pivotal in the study of human health. Researchers have found that SNP sequencing can predict individuals’ response to drugs regarding their efficacy and the side effects they may induce. Moreover, it can predict risk factors that guide a particular disease development in an individual and their susceptibility to environmental factors such as toxins. Lastly, SNP sequencing is key in tracking disease-causing genes that are passed along generational lines. Current studies of SNPs and how they affect sophisticated diseases such as diabetes, cancer and heart disease are ongoing.

Reference

What are single nucleotide polymorphisms (SNPs)?: MedlinePlus genetics. (n.d.). MedlinePlus – Health Information from the National Library of Medicine. https://medlineplus.gov/genetics/understanding/genomicresearch/snp/

Single nucleotide polymorphism. (n.d.). SNPedia. https://www.snpedia.com/index.php/Single_Nucleotide_Polymorphism