Intronic SNPs and Genetic Diseases: A Review

Abstract

Introns qualify as Noncoding nucleotide sequences. In splicing, some segments of the RNA transcript (introns) are eliminated, the other segments (exons) are joining together in the formation of the coding RNAs (mRNA, rRNA and tRNA). Also, Non-coding RNA genes are parts of the intronic. On average, there are 7.8 introns and 8.8 exons per human gene. Single nucleotide polymorphisms (SNPs) are existed in the various positions through the human gene, promoters, alternating regions of exons and introns, terminator, in addition to UTRs, untranslated regions (5'- and 3'-).Therefore, many diseases have been associated with SNPs through different mechanisms. In the current review, we will discuss the several genetic and epigenetic regulations included in identifying disease susceptibility linked to numerous SNPs existing in the intronic region.