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dc.contributor.authorJamali, S
dc.contributor.authorKarimian, M
dc.contributor.authorNikzad, H
dc.contributor.authorAftabi, Y
dc.date.accessioned2018-08-26T09:38:06Z
dc.date.available2018-08-26T09:38:06Z
dc.date.issued2016
dc.identifier.urihttp://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/58172
dc.description.abstractThe genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the protamine 1 (PRM1) and/or 2 (PRM2) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.-190 C>A and g.298 G>C transversions that respectively occur in PRM1 and PRM2 genes with idiopathic oligozoospermia. In a case-control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.-190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR-RFLP methods respectively. An in silico analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in PRM2 was not associated with oligozoospermia (P > 0.05). Whereas, -190CA and -190AA genotypes in PRM1 gene were associated significantly with increased risk of oligozoospermia (P = 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for PRM1 c.-190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 % CI 1.8060-5.8270, P = 0.0001). Further, in silico analysis revealed that c.-190 C>A transversion may alter transcription factor interactions with the promoter region of PRM1. The results revealed that the c.-190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia.
dc.language.isoEnglish
dc.relation.ispartofMolecular Biology Reports
dc.subjectadenine
dc.subjectcytosine
dc.subjectguanine
dc.subjectPRM1 protein, human
dc.subjectprotamine
dc.subjectadult
dc.subjectArticle
dc.subjectblood sampling
dc.subjectcase control study
dc.subjectcomputer model
dc.subjectcontrolled study
dc.subjectgene
dc.subjectgene sequence
dc.subjectgenetic association
dc.subjectgenetic risk
dc.subjecthuman
dc.subjectidiopathic disease
dc.subjectidiopathic oligozoospermia
dc.subjectIranian people
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectoligospermia
dc.subjectpathogenesis
dc.subjectPRM1 gene
dc.subjectPRM2 gene
dc.subjectpromoter region
dc.subjectsingle nucleotide polymorphism
dc.subjectDNA sequence
dc.subjectgene frequency
dc.subjectgenetic association study
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectmale
dc.subjectoligospermia
dc.subjectpromoter region
dc.subjectrisk factor
dc.subjectAdult
dc.subjectCase-Control Studies
dc.subjectGene Frequency
dc.subjectGenetic Association Studies
dc.subjectGenetic Predisposition to Disease
dc.subjectHumans
dc.subjectMale
dc.subjectOligospermia
dc.subjectPolymorphism, Single Nucleotide
dc.subjectPromoter Regions, Genetic
dc.subjectProtamines
dc.subjectRisk Factors
dc.subjectSequence Analysis, DNA
dc.titleThe c.-190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia
dc.typeArticle
dc.citation.volume43
dc.citation.issue8
dc.citation.spage795
dc.citation.epage802
dc.citation.indexScopus
dc.identifier.DOIhttps://doi.org/10.1007/s11033-016-4017-8


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