title: Mutation analysis of TNP1 gene in infertile men with varicocele.
abstract: BACKGROUND
  Varicocele is associated with the failure of ipsilateral testicular growth and development, and the symptoms of pain and reduced fertility. The highly condensed structure of the sperm nuclear chromatin is provided by proper expression of Transition Nuclear Protein (TNP) genes, so any dysregulational expression of these genes results in abnormal spermatogenesis and infertility.
  
  
  OBJECTIVE
  The aim of present study was to assess the association between TNP1 mutations and varicocele in Iranian infertile men.
  
  
  METHODS
  Analysis of association between TNP1 gene mutation and varicocele phenotype was performed using PCR and Single-Stranded Conformational Polymorphism technique and DNA sequencing in 82 varicocele infertile men and 80 control subjects.
  
  
  RESULTS
  Sequence analysis was identified one variant in this gene that found in 15 infertile men and was absent in control group. This variant was a single nucleotide polymorphism that were identified in the intron region of this gene at position g.IVS1+75T>C.
  
  
  CONCLUSIONS
  The effect of this nucleotide substitution in intronic region of the TNP1 gene and their role on expression remains to be determined.
authors: Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran.
authors: Mohammad Mehdi
authors: MM
authors: Heidari
authors: Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran.
authors: Mehri
authors: M
authors: Khatami
authors: Department of Anatomy, Research and Clinical Center for Infertility, Shahid Sadughi University of Medical Sciences, Yazd, Iran.
authors: Ali Reza
authors: AR
authors: Talebi
authors: Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran.
authors: Fahime
authors: F
authors: Moezzi
keywords: Infertility; Single-Stranded Conformational Polymorphism; TNP1 gene; Varicocele