Quantitation of DEFA1A3 gene copy number polymorphism by allele specific amplification and real-time PCR

Balázs Csaba Németh, Ádám Horváth, Márta Szekeres, Yvette Mándi, Ferenc Somogyvári

Research output: Contribution to journalArticle


Some of the PCR based genotyping methods are faster and less expensive than sequencing in population-wide studies. One of the cost effective solutions is the allele specific amplification (ASA). We applied this method for quantitative analysis of defensin α1 (DEFA1) and defensin α3 (DEFA3) genes which are known to have copy number polymorphism in the human genome. The proteins encoded by these genes are human alpha defensins / human neutrophil peptides 1 and 3. Their antimicrobial mechanisms have an important role in the function of innate immune system. Our aim was to improve the reproducibility of ASA using 14 different mastermixes (MMX). Unfortunately, not all MMX-s are suitable for ASA investigations due to their different characteristics of polymerase activity. Here we investigated 14 commercial MMX-s whether they are capable for ASA test.

Original languageEnglish
Pages (from-to)47-50
Number of pages4
JournalActa Biologica Szegediensis
Issue number1
Publication statusPublished - Dec 1 2013



  • ASA
  • Defensin
  • Mastermix
  • Real-time PCR
  • SNP

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

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