ABSTRACT
Background: Asthenozoospermia is one of the etiologies for male factor infertility. It was shown that any abnormality in protamines genes, reduction of protamines transcript and protamines deficiency may play a key role in asthenozoospermia
Objective: The aim of the current study was the evaluation of protamine-1 and 2 genes [PRM1 and PRM2] polymorphisms in asthenozoospermic men
Materials and Methods: In this case-control study, the samples were corresponded to asthenozoospermic specimens of infertile men. The normozoospermic samples were considered as the control group. DNA sequence amplification was performed using four PRM1 and PRM2 primers, designed from 5' to 3' flank regions. The human PRM1 and PRM2 gene sequences were screened in search of potential mutations in highly prevalent polymorphism regions in asthenozoospermia versus normozoospermia
Results: Totally, nine highly prevalent polymorphism regions between the forward and reverse primers were screened. Three of them corresponded to PRM1 and six to PRM2. The most prevalent polymorphism regions in PRM1 were related to 102G>T [rs35576928], 49C>T [rs140477029] and 139C>A [rs737008]. In the PRM2, 6 highly prevalent polymorphisms regions were screened, including 248C>T [rs779337774], 401G>A [rs545828790], 288C>T [rs115686767], 288G>C [rs201933708], 373C>A [rs2070923], and 298G>C [rs1646022]. The allele frequencies of three upper mentioned single nucleotide polymorphisms in asthenozoospermic men including 373C>A, 298G>C and 139C>A was higher than the control group
Conclusion: Our findings indicated that the frequency of some altered genotypes in asthenozospermia was slightly higher than control group. We proposed more extensive studies to be sure that; these genotypes can precisely be related to diagnosis of asthenozoospermia, as the molecular markers
ABSTRACT
Background: tumor protein p53 [TP53] is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 [MDM2], which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and MDM2 in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility
Objective: this study was designed to examine associations of TP53 72 Arg>Pro [rs1042522], and MDM2 309 T>G [rs937283] polymorphisms with spermatogenetic failure in Iranian population
Materials and Methods: a case-control study was conducted with 150 nonobstructive azoospermia or severe oligozoospermia and 150 fertile controls. The two polymorphisms, 72 Arg>Pro in TP53 and 309 T>G in MDM2, were genotyped using PCR-RFLP and ARMS-PCR respectively
Results: our analyses revealed that the allele and genotype frequencies of the TP53 R72P polymorphism were not significantly different between the cases and controls [p=0.41, p=0.40 respectively]. Also, no significant differences were found in the allelic [p=0.46] and genotypic [p=0.78] distribution of MDM2 309 T>G polymorphism between patients and controls
Conclusion: the results of this study indicate that polymorphisms of TP53 and MDM2 genes are unlikely to contribute to the pathogenesis of male infertility with spermatogenetic failure
ABSTRACT
Background: the study of microRNA expression can be effective in the diagnosing and treating different diseases. miR-135a is one of the most important micro-ribonucleic acids involved in endometriosis. Among the genes that become the target of the miR-135a and are subjected to changes in the endometrium of patients with endometriosis is HOXA10 gene which is expressed in the endometrium in response to steroid hormones
Objective: the aim of this study was to evaluate the expression of miR-135a and its relationship with the level of HOXA10 gene expression in both endometrial ectopic and eutopic tissues in patients with endometriosis compared to the control samples
Materials and Methods: in this prospective case-control study, both case-eutopic and case-ectopic tissue samples were obtained from 17 women with endometriosis and the eutopic endometrial tissue was sampled from 17 women with normal endometrium as the control group. The gene's expression of miR-135a and HOXA10 were investigated using quantitative reverse transcription PCR [q-RT PCR]
Results: a significant decrease in the expression of HOXA10 gene was detected in case-eutopic during the luteal phase compared to the control samples [p=0.001], while in the case-ectopic, the expression of this gene was increased [p=0.681] compared to the control samples. In addition, the expression miR-135a in the luteal phase showed a remarkable increase in the case-eutopic endometrial tissue [p=0.026] as well as a significant decrease in the case-ectopic endometrial tissue compared to the control samples [p=0.008]
Conclusion: considering the inverse relations between the over-expression of miR-135a and the reduction of HOXA10, it seems that miR-135a may be applied as an endometrial diagnostic and therapeutic biomarker
ABSTRACT
Background: Recurrent miscarriage, as the occurrence of two or more of pregnancy loss before the 20[th] wk, can occur for multiple causes. One of the causes of miscarriage may be a defect in the process of angiogenesis because the delivery of nutrients to the fetus is decreased and it may lead to miscarriage. Also, micro ribonucleic acids play an important role in the development of diseases. The microRNAs 16 and 21 are the most well-known angiogenesis-related miRNAs, which their gene targets are vascular endothelial growth factor-A and phosphatase and tensin homolog, respectively
Objective: To evaluate the changes in expression of microRNAs 16 and 21 and their association with the gene targets in women with unexplained RM
Materials and Methods: In this case-control study, blood samples were taken from 25 women with unexplained RM and 25 controls. After extraction of RNA, the relative expression of microRNAs and their gene targets was measured using real-time quantitative reverse transcription-PCR method
Results: Our findings showed that miR-21 expression was significantly decreased in both plasma and peripheral mononuclear cells [p=0.04 and p=0.02, respectively] and could be associated with the PTEN expression [p=0.03], however, there is no significant correlation between miR-16 and VEGF-A
Conclusion: One of the most remarkable results of this study is that miR-21 showed significant changes in both plasma and peripheral mononuclear cells, which can be related to the etiology and progression of RM
ABSTRACT
Background: genetic factors are believed to play an important role in the etiology of polycystic ovarian syndrome [PCOS] which is the most common endocrinological disorder of women in their reproductive age. Androgen metabolism is impaired in PCOS and, thus, CYP19 gene which is involved in this pathway can be a candidate gene. Previous studies have shown a relationship between single nucleotide polymorphism [SNP] of CYP19 in hyperandrogenism and PCOS in some racial groups
Objective: this study was designed to elucidate the role of CYP19 gene in PCOS in Iran
Materials and Methods: in this case-control study, 70 PCOS women and 70 non-PCOS women as normal control were selected. Following the informed consent, 5 ml blood was taken from individuals and subsequently, genomic DNA was extracted by salting out method. Furthermore, a set of polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP] was carried out using specific primers for SNP rs.2414096 followed by enzyme digestion, with HSP92II
Results: genotype frequencies of SNP rs. 2414096 in PCOS women were as follows: AA [14.4%], AG [44.3%], and GG [41.4%] while in normal group, genotypes were 24.3%, 52.8%, and 22.9%, respectively. Allele frequencies in PCOS group were 49.3% for A and 50.7% for G, whereas normal group had a different percentage of A [36.4%] and G [63.6%]. The calculations for both genotypic and allelic frequencies showed statistical significance difference
Conclusion: variants of SNP rs. 2414096 in CYP19 could play a role in the development of PCOS in Iranian women
ABSTRACT
Background: Selection of the best embryo for transfer is very important in assisted reproductive technology [ART]. Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART
Objective: The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection
Materials and Methods: A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21
Results: There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes [62.9% vs. 24.7%, p=0.000]. The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13
Conclusion: There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities
ABSTRACT
Background: meiotic genes are very important candidates for genes contributing to female and male infertility. Mammalian MutL homologues have dual roles in DNA mismatch repair [MMR] after replication errors and meiotic reciprocal recombination. The MutL homologs, MLH1 and MLH3, are crucial for meiotic reciprocal recombination and human fertility. In this study the functional polymorphisms of MLH3C2531T was investigated in Iranian women with unexplained infertility
Objective: investigating the association between a common SNP [single nucleotide polymorphism] C2531T in the MLH3 gene and female infertility
Materials and Methods: in total, 105 women with unexplained infertility as case group and 100 women with at least one child and no history of infertility or abortion as controls were recruited for this association study. The MLH3 C2531T polymorphism was tested by tetra-amplification refractory mutation system-PCR [4P-ARMS-PCR] method
Results: the MLH3 2531C and T alleles frequencies were 43.33% and 56.67% among infertile patients, and 61.5% and 38.5% among normal controls, respectively. In the patient and control subjects the CC [Pro 844 Pro] genotype frequency ofMLH3 C2531T was 4.76% and 25%, the CT [Pro 844 Leu] genotype was 77.15% and 73%, and the TT [Leu 844 Leu] genotype was 19% and 2%, respectively [p=0.0001]
Conclusion: the presence of the polymorphic allele T leads to an increased risk of 2.09 times [OR=2.09, 95% CI=1.38-3.16; p=0.0001] for developing infertility in relation to the control group. Therefore, our data suggest that the MLH3 C2531T polymorphism can be associated with the risk of unexplained infertility in Iranian women
ABSTRACT
Background: recurrent pregnancy loss [RPL] caused by various genetic and non-genetic factors. After chromosome abnormality, thrombophilia is one of the most important genetic factors that could cause RPL. Factor V Leiden and factor II G20210A mutation were the most common mutations cause thrombophilia in the world
Objective: the purpose of this study was to determine the frequency of factor V Leiden and prothrombin gene mutations in women with RPL compared with women who had uneventful pregnancies
Materials and Methods: this case control study evaluates the frequency of factor V-Leiden and factor II G20210 genotypes in 80 women with two or more pregnancy losses, compared with 80 women without adverse pregnancy outcome. The mutations were assessed by PCR-RFLP
Results: frequency of the factor V Leiden among cases was 2.5%, which was higher than controls [1.25%], but the difference was not significant. No factor II G20210 mutation was found among cases and controls
Conclusion: these data did not confirm that factor V Leiden and factor II G20210 mutation might play a role in recurrent pregnancy loss in Iranian women