J Pediatr Genet 2013; 02(01): 001-008
DOI: 10.3233/PGE-13042
Review Article
Georg Thieme Verlag KG Stuttgart – New York

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

Bálint Nagy
a   1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary
› Institutsangaben

Verantwortlicher Herausgeber dieser Rubrik:
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Publikationsverlauf

05. Dezember 2012

07. März 2013

Publikationsdatum:
27. Juli 2015 (online)

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.