Application of real-time polymerase chain reaction in the clinical genetic practice

Article type: Review Article

Authors: Nagy, Bálint^;

Affiliations: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary

Note: [] Address for correspondence: Bálint Nagy, 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Baross u. 27, Hungary. Tel.: +36 1 459 1500; Fax: +36 1 317 6174; E-mail: [email protected].

Abstract: The development of polymerase chain reaction revolutionized the molecular genetics and diagnostics. Technical improvements helped to make more specific and sensitive target determinations. Introduction of real-time polymerase chain reaction makes possible several applications in clinical genetics like detection of gene mutations, single nucleotide polymorphisms, deletions, measurement of gene expressions, micro ribonucleic acids, free nucleic acids and microbial genomes. Here I discuss a few examples for specific applications in prenatal clinical genetic practice. These are the detection of microbial genomes, deletions, trisomies, mutations, single nucleotide polymorphisms and free nucleic acids.

Keywords: Real-time PCR, microbial genome, cystic fibrosis, free nucleic acids

DOI: 10.3233/PGE-13042

Journal: Journal of Pediatric Genetics, vol. 2, no. 1, pp. 1-8, 2013