Heidari Mohammad Mehdi, Khatami Mehri, Talebi Ali Reza, Moezzi Fahime
Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran.
Department of Anatomy, Research and Clinical Center for Infertility, Shahid Sadughi University of Medical Sciences, Yazd, Iran.
Iran J Reprod Med. 2014 Apr;12(4):257-62.
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.
The aim of present study was to assess the association between TNP1 mutations and varicocele in Iranian infertile men.
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.
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.
The effect of this nucleotide substitution in intronic region of the TNP1 gene and their role on expression remains to be determined.
精索静脉曲张与同侧睾丸生长发育不良、疼痛症状以及生育能力下降有关。精子核染色质的高度浓缩结构由过渡核蛋白（TNP）基因的适当表达提供，因此这些基因的任何表达失调都会导致精子发生异常和不育。
本研究旨在评估伊朗不育男性中TNP1突变与精索静脉曲张之间的关联。
采用聚合酶链反应（PCR）、单链构象多态性技术及DNA测序，对82例精索静脉曲张不育男性和80例对照者进行TNP1基因突变与精索静脉曲张表型的关联分析。
序列分析在该基因中鉴定出一个变异体，在15例不育男性中发现，对照组未发现。该变异体是一个单核苷酸多态性，在该基因内含子区域第g.IVS1+75T>C位置被鉴定出来。
TNP1基因内含子区域这种核苷酸替代的作用及其对表达的影响仍有待确定。
