Direct detection of the AR-E211 G > A gene polymorphism from blood and tissue samples without DNA isolation

Pathol Oncol Res. 2014 Apr;20(2):223-7. doi: 10.1007/s12253-013-9671-8. Epub 2014 Feb 1.

Abstract

The pathogenesis of prostate cancer (CaP) involves alterations in a gene structure of the androgen receptor (AR). The single nucleotide polymorphism AR-E211 G > A localized in exon 1 of the AR gene (G1733A) was detected using direct polymerase chain reaction and restriction digestion (PCR-RFLP) method on blood and tissue samples without prior DNA isolation. We used blood samples of patients with a diagnosis of benign prostatic hyperplasia (BPH) or CaP. From monitored group of CaP patients were selected specimen in formalin-fixed paraffin-embedded tissue blocks with morphology of BPH and CaP. The main objective of our study was to develop a method based the direct PCR-RFLP analysis from blood and tissue without prior DNA isolation for faster genotyping analysis of a large number of samples. We found no statistically significant differences in allelic % of the AR-E211 G > A polymorphism between BPH and CaP patients (p ≤ 0.8462). Genotyping of the AR-E211 G > A variant in blood was not identical with tumor tissue genotyping analysis. Significant agreement between blood and tissue AR-E211 G > A polymorphism only in non-tumor tissue focus was confirmed. Although we analyzed a limited number of the tissue samples, we suppose that a presence of the minor allele A may be associated with cancer transformation-induced changes of the modified AR gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Blood
  • Blood Chemical Analysis / methods*
  • DNA / analysis
  • DNA / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Prostatic Hyperplasia / blood
  • Prostatic Hyperplasia / diet therapy
  • Prostatic Hyperplasia / genetics
  • Prostatic Hyperplasia / metabolism
  • Prostatic Neoplasms / blood
  • Prostatic Neoplasms / diagnosis
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / metabolism
  • Receptors, Androgen / blood
  • Receptors, Androgen / genetics*
  • Receptors, Androgen / metabolism

Substances

  • AR protein, human
  • Receptors, Androgen
  • DNA