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

Research output: Contribution to journalArticle

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalJournal of Pediatric Genetics
Issue number1
Publication statusPublished - 2013


  • Cystic fibrosis
  • Free nucleic acids
  • Microbial genome
  • Real-time PCR

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health

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