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Showing 50 results for Polymorphism

Sayee Rajangam, Preetha Tilak, Aruna N, Rema Devi,
Volume 5, Issue 2 (7-2007)

Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility.
Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and still born and 73 infertile male partners have been referred for chromosomal analysis.
Results: The chromosomal abnormality was found in 4.4% (83) of the sample studied. Chromosomal abnormality was seen in 56 couples (3.4%), 15 female (11.5%) and 12 male (16.4%) partners. The numerical chromosomal abnormality were seen in 34 (41%) and the structural abnormalities in 49 (59%) cases. The numerical chromosomal abnormalities were associated with sex chromosomes as follows (the number of cases are shown in parenthesis): 47, XXY (9); 46, XY/ 47, XXY (2); 46, XY/ 48, XXXY (1); 46, XY/ 47, XYY (2) and X mosaicism; 45, X/ 46, XX (14); 46, XX/ 47, XXX (6). The structural anomalies were 40 translocations and 9 duplication/ deletion/ marker/ iso chromosome for the X chromosome; Male: 46,XY/ 47,XY+ mar (1); Female: 45,X/ 47,XX+mar (1); 46,XX/ 47,XX+mar (1); 47,XX+frag (1); 46,X,Xq- (2); 46,X,Xp- (1); 46,X,Xp+ (1); 45,X/46,X,i(Xq)(1). The frequently involved chromosomes in the translocations were 4, 11, 15 and X. There were three X; autosomal translocations and a unique combination of translocation 1; 15 in the parents of a female carrier and 13; 14 in a non- consanguineous couple. On the whole, 57.5% of the females (23/ 40) were translocation carriers. Non-significant chromosome polymorphisms were observed in 79 cases (4.2%).
Conclusion: The current study has demonstrated the presence of the chromosomal abnormality and its influence in reproductive failure. On an average, in this study one in 56 couple and one in 12 males with infertility or one in 15 females with BOH has had a chromosomal abnormality as the genetic cause. The identification of chromosomal abnormality as the etiology has facilitated the counseling and appropriate management.
Seyed Morteza Seifati, Kazem Parivar, Abbas Aflatoonian, Razieh Dehghani Firouzabadi, Mohammad Hasan Sheikhha,
Volume 10, Issue 1 (7-2012)

Background: Endometriosis is one of the most common gynecologic disorders. It is a complex trait and both genetic and environmental factors have been implicated in its pathogenesis. There is growing evidence indicating that exposure to environmental contaminants is a risk factor for endometriosis. Glutathione-S-Transferase M1 (GSTM1) is one of the genes involved in detoxification of endogenous and exogenous compounds.
Objective: Several studies have indicated an association between GSTM1 null mutation and endometriosis. In this study, the possible association between the GSTM1 gene null genotype and susceptibility to endometriosis in woman from central and southern Iran was investigated.
Materials and Methods: One hundred and one unrelated premenopausal women with endometriosis and 142 unrelated healthy premenopausal women without endometriosis were enrolled in the study. Genomic DNA was extracted from Peripheral blood in all subjects. GSTM1 null genotyping was performed by polymerase chain reaction (PCR).
Results: There was no significant difference between frequencies of GSTM1 null genotype in case and control groups (50.5% Vs. 52.1%, p=0.804). Furthermore, this genotype was not associated with severity of endometriosis in our sample (p=0.77).
Conclusion: further studies involving gene-environment and gene-gene interactions, particularly combination of GSTM1 and other GST gene family polymorphisms are needed.
Elham Siasi, Ahmad Aleyasin, Javad Mowla, Hamid Sahebkashaf,
Volume 10, Issue 4 (8-2012)

Background: Histones are replaced by protamines to condensate and package DNA into the sperm head during mammalian spermatogenesis. Protamine genes defects have been reported to cause sperm DNA damage and male infertility.
Objective: In this study relationship among some protamines genes family SNPs include PRM1 (C321A), PRM2 (C248T) and TNP2 (T1019C), (G1272C), (G del in 1036 and 1046 bp) were studied in 96 idiopathic infertile men with azoospermia or oligospermia and 100 normal control men.
Materials and Methods: Analysis of SNPs was performed using restriction fragment length polymorphism (PCR-RFLP), single strand conformational polymorphism (PCR-SSCP) and PCR sequencing.
Results: No polymorphisms were found for tested SNPs except for PRM1 (C321A) and TNP2 (G1272C) in which frequency of altered AA and GG genotypes were slightly higher in infertile case group. Statistical analysis showed no significant association related to PRM1 (C321A) p=0.805 and TNP2 (G1272C) loci p=0.654.
Conclusion: These results are consistent with previous studies and indicating that all tested SNPs was not associated with oligospermia and azospermia and idiopatic male infertility in Iranian population.
Hossein Pashaiefar, Mohammad Hasan Sheikhha, Seyyed Mehdi Kalantar, Tahereh Jahaninejad, Mohammad Ali Zaimy, Nasrin Ghasemi,
Volume 11, Issue 1 (4-2013)

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 MLH3 C2531T 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 of MLH3 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.
Fahimeh Ramezani Tehrani, Maryam Daneshpour, Somayeh Hashemi, Maryam Zarkesh, Feridoun Azizi,
Volume 11, Issue 3 (5-2013)

Background: Polycystic ovary syndrome (PCOS) is a complex disease having both genetic and environmental components and candidate genes on obesity and insulin metabolism have been hypothesized to be involved in its etiology.
Objective: We examined the possible association of adiponectin and insulin receptor gene polymorphisms with PCOS.
Materials and Methods: A total of 186 women with PCOS using NIH criteria and 156 healthy women were recruited. Their samples were genotyped for the polymorphism in exon 17 and 8 of the insulin receptor gene or exon and intron 2 of the adiponectin gene.
Results: The distributions of genotypes and alleles of both polymorphisms were not different in women with PCOS and controls. There was no significant differences on the anthropometric and hormonal profiles of various adiponectin and insulin receptor genes polymorphisms among both groups.
Conclusion: Adiponectin and insulin receptor gene polymorphisms are not associated with PCOS in a sample of Iranian population.
Mehdi Nikbakht Dastjerdi, Roshanak Aboutorabi, Bahram Eslami Farsani,
Volume 11, Issue 6 (9-2013)

Background: Endometriosis is a female health disorder that occurs when cells from the lining of the uterus grow in other areas of the body. The cause of endometriosis is unknown.
Objective: The purpose of this study was to investigate TP53 gene codon 72 polymorphism in women with endometriosis and compared it with healthy samples in Isfahan.
Materials and Methods: We undertook a case-control study to examine the possible association of the TP53 gene codon 72 polymorphism with the risk of endometriosis in Isfahan. Ninety whole blood specimens from normal people as controls and ninety endometriosis specimens were analyzed. p53 codon 72 genotypes were identified using allele-specific polymerase chain reaction.
Results: Frequency of genotype Arg/Arg (Arginine/Arginine) in the samples of endometriosis was 28.9% and in healthy samples 42.2%. Frequency of genotype Pro/Pro (Proline/Proline) in the samples of endometriosis was 15.6% and in healthy ones. Frequency of heterozygote's Arg/Pro was 55.6% in endometriosis samples and 54.45% in healthy ones 3.3%. By comparing statistical genotype Pro/Pro with two other genotypes in both groups there was a statistical meaningful difference between control group and endometriosis group. [p=0.009, CI=95%, OR=5.34 (1047-19.29)].
Conclusion: Recent research shows that genotype Pro/Pro codon72 exon4 TP53 gene may be one predisposing genetic factor for endometriosis in Isfahan.
Farnaz Shapouri, Shaghayegh Saeidi, Sara Ashrafi Kakhki, Omid Pouyan, Elham Amirchaghmaghi, Reza Aflatoonian,
Volume 11, Issue 11 (12-2013)

Background: It has been suggested that malfunction of immune system may cause testicular cancer. Recently, our understanding of innate immune system has been expanded, by discovery of “Toll- like receptors” (TLRs). Some studies have shown that polymorphisms of TLR2 and 4 can effect on the risk of cancer. Also, the role of TLRs 3and 9 have been shown in apoptosis of cancer cells and metastasis in animal models.
Objective: Little information is available about the influence of innate immunity on testicular malignancy. Therefore, expression of TLRs 2, 3, 4 and 9 as main components of innate immunity has been investigated in this study.
Materials and Methods: In this case control study, TLRs gene expression was examined by RT-PCR in normal testis and testicular cancer tissues. Real time quantitative PCR (Q-PCR) analysis was used to compare the relative expression of TLRs between the samples.
Results: mRNAs of TLR 2, 3, 4 and 9 were expressed in all normal and cancer samples. Q-PCR reveals that cancer samples had stronger expression of these genes in compared with normal ones.
Conclusion: It seems that the different TLRs expression in testicular cancer cells may contribute to extensive signaling pathways involved in carcinogenesis.
Nasim Borhani, Marefat Ghaffari Novin, Mehdi Manoochehri, Mohsen Rouzrokh, Bahram Kazemi, Ameneh Koochaki, Ahmad Hosseini, Reza Masteri Farahani, Mir Davood Omrani,
Volume 12, Issue 3 (4-2014)

Background: Hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. Androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects.
Objective: In present study, we looked for new variations in androgen receptor promoter and screened its exon 1 for five single nucleotide polymorphisms (SNP) in healthy and hypospadias Iranian men.
Materials and Methods: In our study, at first DNA was extracted from patients (n=100) and controls (n=100) blood samples. Desired fragments of promoter and exon 1 were amplified using polymerase chain reaction. The promoter region was sequenced for the new variation and exone 1 screened for five SNPs (rs139767835, rs78686797, rs62636528, rs62636529, rs145326748) using restriction fragment length polymorphism technique.
Results: The results showed a new single nucleotide variation (C→T) at -480 of two patients’ promoter region (2%). None of the mentioned SNPs were detected in patients and controls groups (0%).
Conclusion: This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly.
Mohammad Mehdi Heidari, Mehri Khatami, Ali Reza Talebi, Fahime Moezzi,
Volume 12, Issue 4 (5-2014)

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.
Fatemeh Baghbani, Salmeh Mirzaee, Mohammad Hassanzadeh-Nazarabadi,
Volume 12, Issue 5 (6-2014)

Background: Chromosomal disorders are the most common cause of first trimester spontaneous abortion. Among the human chromosomes, chromosome no.9 was the most common structural chromosomal variant and it is not thought to be of any functional importance, which often considers as a normal variation in structural polymorphisms, nevertheless there are some studies which claim that there is an association between heteromorphism of chromosome no.9 and some pregnancy complication.
Case: To postulate any correlation between chromosome no. 9 heteromorphism and recurrent abortion, chromosomal analysis was performed on the basis of G-banding technique at high resolution for a couple with the history of 4 ultrasound diagnosed blighted ovum and Chromosome constitution appeared with chromosome no.9 heteromorphism in all 30 metaphases screened for both partners (9p11-q13).
Conclusion: Observation of reproductive failure in couples with heteromorohic pattern of chromosome no.9 suggests that, although the heteromorphism of chromosome no.9 is not a rare condition which often consider as a normal variation with no evidence of any phenotypic effect of patient, nevertheless it seems as if the location of heteromorphic region maybe interfere with meiotic events like the phenomenon of crossing over or miotic segregation of fertilized egg that eventually lead to the development of fertilized eggs with chromosomal abnormalities leading to the possibility of anemberyonic pregnancy, therefore chromosomal analysis for detecting of chromosome no.9 heteromorphism for couples with the history of ultrasound diagnosed blighted ovum will be strongly suggested.
Marzieh Mahdavipour, Farah Idali, Saeed Zarei, Saeed Talebi, Ramina Fatemi, Mahmood Jeddi-Tehrani, Somayeh Pahlavan, Farzad Rajaei,
Volume 12, Issue 6 (8-2014)

Background: Recurrent pregnancy loss (RPL) is a multifactorial disorder. Environmental factors and genetics can affect pregnancy outcomes.
Objective: Conflicting data suggest an association between estrogen receptor alpha (ESR1) gene polymorphisms and RPL. In this study, such association was investigated in Iranian women with RPL.
Materials and Methods: In this case control study, blood samples were collected from 244 women with a history of three or more consecutive pregnancy losses and 104 healthy women with at least two live births. Using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), we studied -397C/T and -351A/G polymorphisms on ESR1 gene in case and control subjects.
Results: The genotypic frequencies of -397C/T and -351A/G polymorphisms on ESR1were not significantly different between RPL and control groups (p=0.20 and p=0.09, respectively). A significantly negative correlation was observed between -397C/T and -351A/G (r=-0.852, p<0.001) in RPL women and complete linkage disequilibrium between the investigated polymorphisms was found (D’: 0.959; r-square= 0.758, p<0.001).
Conclusion: This investigation suggests that the analyzed polymorphisms on ESR1gene are not associated with an increased risk of RPL in the studied population.
Manal T Mutib, Farqad B Hamdan, Anam R Al-Salihi,
Volume 12, Issue 7 (8-2014)

Background: Polycystic ovarian syndrome (PCOS) is a complex, heterogeneous disorder of uncertain etiology with strong genetic background. Insulin resistance is present in the majority of PCOS cases with linkage and association between single nucleotide polymorphisms of insulin receptor (INSR) gene and PCOS.
Objective: To examine whether the exon 17 of INSR gene contributes to genetic susceptibility to PCOS in Iraqi women and its effects on glucose tolerance test and lipid profile.
Materials and Methods: Sixty-five healthy Iraqi women and eighty-four infertile women with PCOS, divided into two subgroups depending on the BMI were studied. Restriction fragment length polymorphism (RFLP-PCR) analysis was performed to determine the genotypes for the His 1058 C/T polymorphism at the tyrosine kinase domain in the INSR gene. Clinical, anthropometric and biochemical parameters were also estimated.
Results: The C/T polymorphism at His 1058 in exon 17 of INSR was associated with PCOS (obese and non-obese). CC genotype frequency was higher in PCOS patients whereas TT genotype was higher in control women. Those with CC genotype had higher BMI, GTT and lipid profile than those with TT genotype.
Conclusion: An association of C/T polymorphism at His1058 of INSR with PCOS in Iraqi women was observed. Its association with indices of insulin resistance and dyslipidemia were also noticed.
Mahbubeh Enghelabifar, Somaiieh Allafan, Jina Khayatzadeh, Khadijeh Shahrokh Abadi, Mohammad Hasanzadeh Nazarabadi, Fahimeh Moradi, Nozhat Musavifar, Mohsen Jalali, Majid Mojarrad,
Volume 12, Issue 9 (10-2014)

Background: Implantation failure of blastocyst is one of the main reasons of failure to become pregnancy following use of Assisted Reproductive Techniques. HLA-G, one of the non-classic HLA subtypes, seems to have a vital role in neutralizing of mother immune system. According to importance of ins/del polymorphism of HLA-G in regulation of HLA-G expression, it seems that this polymorphism has an important effect in immune response against embryo, and so success of embryo implantation.
Objective: In this experiment we try to evaluate association of HLA-G ins/del polymorphism with risk of occurrence of RIF in ART treated infertile women.
Materials and Methods: To evaluating insertion/deletion polymorphism association with RIF we design a case-control study. We select 40 women with history of recurrent failure to become pregnant following IVF as RIF case group. Forty women with pregnancy following IVF were selected as control. Members of both groups were assessed to rule out of anatomical, immunological and known genetical cause of infertility. Presence of 14 bp insertion/deletion alleles was assessed using PCR-PAGE technique. The data were analyzed by means of SPSS software using Chi-Square tests at the significant level of p<0.05.
Results: Our data shows that frequency of heterozygote genotype (ins/del) was significantly higher in case group. Furthermore presence of HLA-G insertion/deletion genotype shows association with increase of implantation failure risk by 3.85 fold.
Conclusion: According our results, Heterozygote genotype of ins/del leads to increase of RIF risk. It seems that by genotyping of HLA-G polymorphism, we can predict risk of implantation failure in infertile women after use of ART.
Camil L Bohiltea, Viorica E Radoi,
Volume 12, Issue 9 (10-2014)

Background: Approximately 10-14% of the clinically acknowledged pregnancies end with spontaneous abortion at Caucasian population. Possible immunologic causes of recurrent miscarriages have been extensively researched. The change in the cytokines balance synthesis in favor of those synthesized by Th2 cells with an increase of interleukin 6 (IL6) and interleukin10 (IL10) secretion is considered essential for maintaining a normal pregnancy.
Objective: The study objective was to establish an association between interleukin 6 and 10 genes polymorphisms and etiology of recurrent pregnancy loss.
Materials and Methods: The genetic polymorphism of interleukin 6 and 10 genes were studied by PCR-RFLP in the DNA of 69 women with recurrent pregnancy loss and 64 control women with at least one successful pregnancy and without known pregnancy loss. Statistical analysis was performed using Fisher test and differences were considered statistically significant with a p<0.05.
Results: Our results demonstrated a role for -819 C/T but not for -592 C/A IL10, -1082 A/G IL10 and -174G/C IL6 polymorphisms in idiopathic recurrent spontaneous abortion (RSA) in Romanian population. Frequency of genotype -592 CC/-819 CC was higher in the control group than in experimental group (p=0.005). In contrast, genotype -592 AC/-819 CT was more frequent in the experimental group (p=0.05). In this study we have not detected genotype -174 C/C in IL6 gene in patients with spontaneous abortions, nor in the control group.
Conclusion: This study demonstrated a possible association between IL-10 -819 C/T promoter polymorphism and idiopathic RSA among Romanian patients.
Robab Davar, Nasim Tabibnejad, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha,
Volume 12, Issue 10 (11-2014)

Background: Despite extensive progress in IVF techniques, one of the most difficult problems is the variability in the response to controlled ovarian hyperstimulation (COH). Recent studies show the effects of individual genetic variability on COH outcome.
Objective: To evaluate the correlation between LHβ G1502A polymorphisms in exon 3 of the LH gene and ovarian response to COH.
Materials and Methods: A total of 220 women treated with a long protocol for ovarian stimulation were studied. Three genotypes of GG, GA and AA were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
Results: In total, 34 (17%) patients were poor responders, 154 (77%) were normal responders and 12 (6%) were hyper responders. The most frequent genotype was GA (55.5%) whereas 44.5% of patients showed GG genotype and there was no patient with AA genotype. In total 54.5% of normal responders, 61.8% of poor responders and 50% of hyper responders showed GA genotype.
Conclusion: Our results did not establish a significant relationship between this polymorphism and the ovarian response. Therefore it is still very difficult to use the genotype of patients for prediction of the ovarian response to stimulation.
Dandan Li, Junjie Cheng, Wanghong Li, Wei Ma, Xu Zhou, Lianwen Zheng, Chunjin Li,
Volume 13, Issue 1 (1-2015)

Background: Progesterone has been suggested to contribute to the regulation of spermatogenesis and to facilitate the production of viable sperm. Investigations have showed that polymorphism of progesterone receptor (PGR) is associated with some diseases.
Objective: To analyze the potential relationship between male infertility and the +331G/A and progins polymorphisms of PGR gene.
Materials and Methods: The cross-sectional study was carried out at the Department of Male Reproduction, Reproductive Medical Center, the Second Hospital of Jilin University. The restriction fragment length polymorphism (RFLP) technique was used to detect gene point mutations. Of the 145 semen samples analyzed, 35 were asthenozoospermic, 50 were oligoasthenozoospermic, 21 were azoospermic, 11 were teratozoospermic and 28 were from fertile male subjects.
Results: Statistical analyses revealed that the genotypes of the +331G/A polymorphisms were in Hardy-Weinberg equilibrium in both the fertile (χ2=0, p=0.534) and oligospermic groups (χ2=0.021, p=0.537). Similarly, the genotypes of the progins polymorphisms were also in Hardy–Weinberg equilibrium in both the fertile (χ2=0, p=1) and oligospermic groups (χ2=0.005, p=1).
Conclusion: Our results indicated that polymorphisms of the +331G/A and progins of the PGR gene are unrelated to male infertility, at least in a Chinese population.
Mesut Yıldız, Mehmet Vural, Mehmet Emin Erdal, Özlem Izci Ay, Şenay Görücü Yılmaz, Ibrahim Fatih Karababa, Salih Selek,
Volume 13, Issue 4 (5-2015)

Background: Premenstrual dysphoric disorder (PMDD) is a mood disorder characterized with physical and affective symptoms during the luteal phase of susceptible women.
Objective: The aim of this study was to investigate the association of Dopamine D3 receptor ( DRD3 ) polymorphism, and Cannabinoid receptor Type 1 ( CNR1 ) polymorphism with PMDD.
Materials and Methods: Fifty one participants with documented PMDD according to the DSM IV criteria and 51 healthy controls were included in this cross sectional study. Symptom severity was measured with daily self-rating, monthly premenstrual assessment forms and psychiatric interviews. The genotyping of DRD3 receptor and Cannabinoid type 1 receptors were performed using Taqmanfluorogenic assay method.
Results: Distribution of DRD3 and CNR1 polymorphism was not different between patients and controls.
Conclusion: These findings do not support a major role of DRD3 , and CNR1 polymorphisms in contributing to susceptibility to premenstrual dysphoric disorder.
Zeinab Nematollahi, Hossein Hadinedoushan, Abbas Aflatoonian, Gilda Eslami, Nasrin Ghasemi,
Volume 13, Issue 4 (5-2015)

Background: Recurrent pregnancy loss (RPL) has been defined as two or more miscarriages before 20 th week of gestation. It seems that IL-27 may reduce inflammatory responses and affect the survival of the embryo during human pregnancy. IL-27 polymorphisms may influence RPL by altering the levels or the activity of gene product.
Objective: We studied for the first time the association of IL-27 -964 A>G single nucleotide polymorphism (SNP) with RPL in Iranian women.
Materials and Methods: A case-controlled study was performed on two groups consisting of 150 healthy women with at least one delivery (control group) and 150 women with two or more primary RPLs history (RPL group). The -964 A>G SNP in IL-27 gene was determined by PCR-RFLP technique. Genotype and allele frequencies were compared using c 2 tests between two groups.
Results: There was no difference between the two groups regarding age of women (29±4.4 [control] vs. 30.84±5.2 years [case]). In the RPL group, the genotype frequencies of -964 A>G polymorphism were AG (49.3%), AA (40%), and GG (10.7%), and in the control group, they were AG (43.3%), AA (48.7%), and GG (8%). There was no significant difference between the genotypes of AA, AG, and GG in two groups (p=0.23). As the frequency of allele A was 64.7% in the RPL group and 70.3% in the control group, the difference in frequency of allele A in -964 A>G between two groups was not significant (p=0.19).
Conclusion: Our findings indicate that SNP of -964 A>G in IL-27 gene is not a risk factor for RPL in Iranian women.
Eskandar Taghizadeh, Seyed Mehdi Kalantar, Reza Mahdian, Mohammad Hasan Sheikhha, Ehsan Farashahi-Yazd, Saeed Ghasemi-Esmailabad, Zahra Shahbazi,
Volume 13, Issue 4 (5-2015)

Background: Sulfatase 1 ( SULF1 ) function is to remove the 6-O-sulphate group from heparan sulfate. This action changes the binding sites of extracellular growth factors. SULF1 expression has been reported to be changed in angiogenesis. We hypothesized that single nucleotide polymorphisms (SNPs) of SULF1 would impact clinicopathologic characteristics.
Objective: Study of SULF1 gene polymorphism with fetus failure in in vitro fertilization (IVF) technique.
Materials and Methods: We studied one common (minor allele frequency >0.05) regulatory SNP, rs6990375, with polymerase chain reaction and restriction fragment length polymorphism method, in 53 infertile women with fetus failure in IVF technique and 53 women with at least one healthy child as controls.
Results: We found that rs6990375 is significantly associated with an early failure in IVF and frequency of G allele is high in women with fetus failure in IVF technique (p<0.001).
Conclusion: These findings suggest that SULF1 genetic variations may play a role in IVF technique fetus failure. Further studies with large sample sizes on SULF1 SNPs may be useful in support of this claim.
Mohamad Moghadam, Saied Reza Khatami, Hamid Galehdari,
Volume 13, Issue 5 (7-2015)

Background: Androgens play critical role in secondary sexual and male gonads differentiations such as spermatogenesis, via androgen receptor. The human androgen receptor (AR) encoding gene contains two regions with three nucleotide polymorphic repeats (CAG and GGN) in the first exon. Unlike the CAG repeats, the GGN has been less studied because of technical difficulties, so the functional role of these polymorphic repeats is still unclear.
Objective: The goal of this study was to investigate any relationship between GGN repeat length in the first exon of AR gene and idiopathic male infertility in southwest of Iran.
Materials and Methods: This is the first study on GGN repeat of AR gene in infertile male in Khuzestan, Iran. We used polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis to categorize GGN repeat lengths in 72 infertile and 72 fertile men. Afterwards we sequenced the PCR products to determine the exact length of GGN repeat in each category. Our samples included 36 azoospermic and 36 oligozoospermic men as cases and 72 fertile men as control group.
Results: We found that the numbers of repeats in the cases range from 18 to 25, while in the controls this range is from 20 to 28. The results showed a significant relation between the length of GGN repeat and fertility (p=0.015). The most frequent alleles were alleles with 24 and 25 repeats respectively in case and control groups. On the other hand no significant differences were found between Arab and non-Arab cases by considering GGN repeat lengths (p=0.234).
Conclusion: Due to our results, there is a significant association between the presence of allele with 24 repeats and susceptibility to male infertility. Therefore this polymorphism should be considered in future studies to clarify etiology of disorders related to androgen receptor activity.

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