[I. Single nucleotide polymorphism in human genetic analyses].

Abstract

The new era of human genetic analyses has been began by finishing of The Human Genome Project. Discovery of the almost complete sequence of human DNA showed surprisingly small differences between the genetic materials of randomly chosen people. Genetists pay intensive attention to the very small part of nucleotide sequence - 0.1% - which contains polymorphic changes. The most frequent type of these changes is polymorphism of a single nucleotide (SNP). It makes up about 90% of all molecular differences in human DNA sequence. There are about 3 mln positions in DNA sequence containing SNPs. Polymorphic changes serve as genetic markers and they enable to map genes or to follow their inheritance. Changes of this kind seem also to be the possible cause of the remarkable variety of susceptibility to many common diseases e.g.: diabetes, cancer and cardiovascular disorders. SNPs are also the object of interest of intensively developing scientific domain - pharmacogenetics. Scientists working on this interdisciplinary field - connecting pharmacology and genetics - try to find out the reason of great variety of response to medicines and their side effects in case of patients belonging to the same therapeutical groups. Progress in this kind of research in near future will enable a significant improvement of pharmacological therapy, which will be based on matching the drug to genetically determined traits of patients.