DOI: https://doi.org/10.36719/2663-4619/113/249-252
Madina Rustamzadeh
Bakı State University
https://orcid.org/0009-0004-9713-292X
medine.rustemzade021@gmail.com
Influence of Single Nucleotide Polymorphisms on Expression
of Human Genes
Abstract
The article is devoted to the study of the influence of single nucleotide polymorphisms on gene expression in humans using two families (alpha and beta) of globin genes as an example. The presence of numerous SNPs and indel in potential promoter elements in the 4 studied globin genes shows that some genetic causes of clinical complications are associated with mutations in non-coding regions of the genes, which suggest that some results obtained in this work can be used to assess the functional role of some SNP. Currently, the widespread development of high-performance techniques makes it possible to measure the parameters of the whole genome, transcriptome, and proteome in one experiment. Highly organized DNA chip and transcriptome technologies allow simultaneous study of the dynamics of expression of tens of thousands of genes.
Keywords: gene expression, single nucleotide polymorphisms, DNA, transversions, RNA