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Mohammad Mehdi Heidari, Mehri Khatami, Ali Reza Talebi, Fahime Moezzi,
Volume 12, Issue 4 (5-2014)
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.
Materials and 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.
Conclusion:  The effect of this nucleotide substitution in intronic region of the TNP1 gene and their role on expression remains to be determined.
Mohammad Mehdi Heidari , Amirhossein Danafar, Fahime Moezzi, Mehri Khatami, Ali Reza Talebi,
Volume 17, Issue 8 (August 2019)
Abstract

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage.
Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele.
Materials and Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men.
Results: The results of sequencing showed three variants at positions c.301C>T (p.R101C), c.391C>T (p.R131W), and g.IVS1-26G>C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G>C SNP is higher than those who donchr('39')t have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR = 3.278, p = 0.000 and OR = 9.304, p = 0.038, respectively).
Conclusion: Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G>C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.

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