Disease-associated variations of autosomal STR loci: minireview

Abstract

The human genome is constantly undergoing various types of mutations. Some of them seem to be inherited, while others occur spontaneously under the influence of external environmental factors. Some diseases are caused by mutations that are inherited from the parents. Currently, the investigation of new reliable markers for the prediagnosis of hereditary diseases is one of the urgent issues. Several of these markers are identified by genome-wide association studies (GWAS), others by candidate gene approach (CGA), as well as by individual experimental studies. The current article provides a summary of research related to the study of the association of STR markers that are included in human identification kits with various diseases. The key idea of this article was to highlight the alleles as well as several trisomies that are associated with Down's and Edwards' syndromes located in the coding region, mainly variants of loci (CSF1PO, TPOX, THO1, vWA, FGA, etc.) inside the genes, which are associated with diseases. Based on the experimentally obtained results these markers can serve as additional diagnostic tools. Moreover, these markers can be used in family planning policy.