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Background: Approximately 15% of couples are infertile with the male factor explaining approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletions within the proximal long arm of the Y chromosome (Yq11), named the azoospermia factor (AZF) region. Recent studies have shown there is a potential connection between deletions of the AZF region and recurrent pregnancy loss (RPL). The aim of this study is to examine this association by characterizing AZF microdeletions in two infertile groups: in men with non-obstructive infertility and in men with wives displaying RPL. Materials and Methods: In this is a case-control study, genomic DNA was extracted from 80 male samples including 40 non-obstructive infertile men, 20 males from couples with RPL and 20 fertile males as controls. Multiplex polymerase chain reaction was used to amplify 19 sequence tagged sites (STS) to detect AZF microdeletions. Differences between the case and control groups were evaluated by two-tailed unpaired t test. P<0.05 were considered statistically significant. Results: Only one subject was detected to have Y chromosome microdeletions in SY254, SY157 and SY255 among the 40 men with non-obstructive infertility. No microdeletion was detected in the males with wives displaying RPL and in 20 control males. Y chromosome microdeletion was neither significantly associated with non-obstructive infertility (P=0.48) nor with recurrent pregnancy loss. Conclusion: Performing Testing for Y chromosome microdeletions in men with non-obstructive infertility and couples with RPL remains inconclusive in this study. [ABSTRACT FROM AUTHOR]

Among the factors postulated to play a role in MS susceptibility, the role of vitamin D is outstanding. Since the function of vitamin D receptor (VDR) represents the effect of vitamin D on the body and genetic variations in VDR gene may affect its function, we aim to highlight the association of two VDR gene polymorphisms with MS susceptibility. In current study, we recruited 113 MS patients and 122 healthy controls. TaqI (rs731236) and ApaI (rs7975232) genetic variations in these two groups were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. All genotype and allele frequencies in both variations showed association with the disease status. However, to find the definite connection between genetic variations in VDR gene and MS disease in a population of South East of Iran, more researches on gene structure and its function with regard to patients’ conditions are required. [ABSTRACT FROM AUTHOR]

The article focuses on a study related to the verification of the association of p15 and p16 gene methylation with clinicopathological features of the oral cavity by checking the methylation status of these genes in oral squamous cell carcinoma (OSCC) patients. The polymerase chain reaction for promoter methylation was performed during the study. The gene expression assay showed no significant difference but higher ratios of methylation for p15 and p16 genes was observed in the OSCC patients.

Abstract: Vesicoureteral reflux (VUR) is a common childhood problem, causing renal wounds and escalating the risk of renal deficiency and hypertension. A vast literature exists suggesting that genetic variations play a significant role in the pathogenesis of VUR. The aim of the present study was to estimate whether genetic polymorphisms of IL-19 (GC rs2243158, AT rs2243158) and IL-20 (AG rs2981573, TG rs2981572) genes are involved in the development of VUR. Materials and methods: The tetra amplification mutation refractory system-polymerase chain reaction (Tetra-ARMS PCR) was applied for analyzing four polymorphic sites of IL-19 (GC rs2243158, AT rs2243158) and IL-20 (AG rs2981573, TG rs2981572) genes in 110 healthy controls and 124 VUR children. Results: A significant association was found between the combined genotypes of IL19GC + CC and IL20TG + GG and increased risk of VUR (OR=1.90, 95% CL, 1.06–3.41; OR=1.87, 95% CL, 1.06–3.29, respectively). The frequency of allele G in both sites of IL-20 (IL20AG rs2981573 and IL20TG, rs2981572) showed a statistically significant difference (p =0.01) between cases and controls in comparison with the wild type. The combined haplotype analysis of IL-19 and IL-20 polymorphic sites revealed that HT2, HT3 and HT5 haplotypes marginally increased the risk of VUR, but not statistically significantly. Gene–gene interaction data of IL-19 (GC rs2243158, AT rs2243158) and IL-20 (AG rs2981573, TG rs2981572) in various genotype patterns highlighted the fact that most of the genotype combinations increased the risk of disease insignificantly. Conclusion: This is the first evidence regarding IL-19 and IL-20 cytokine genes polymorphism and risk of VUR, suggesting the need for further study with large sample size and in different populations to confirm the presented data. [Copyright &y& Elsevier]