The common CFTR mutations were detected in 9/53(17%) infertile men with non-CAVD obstructive azoospermia. Pre-treatment CFTR mutation analysis remains critical to distinguish cystic fibrosis (CF) genotypes for men with non CAVD obstructive azoospermia.

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Background & aims: Down syndrome is the most common chromosomal abnormalities in chromosome number. Children with Down syndrome are often identified by symptoms such as severe growth and mental retardation and specific facial characteristics. The human glutathione S-transferases (GSTs) are a family of enzymes known to act in the body as the defense systems for neutralize free radicals. These super family of enzymes, are components of metabolic phase II enzymes and play an important role in the immune system of body. The aim of this study was to examine whether an association exists between glutathione S-transferase GSTM1 and GSTT1 genes polymorphism and Down syndrome. Material and methods:This case-control study conducted between the years 2013 to 2014 in whole of Iran. The study group consisted of 51 patients with Down syndrome and 51 healthy subjects as the control. DNA was extracted by salting out method from peripheral blood and multiplex polymerase chain reaction was performed following agarose gel electrophoresis to detect gstt1 and gstm1 null genotypes. Data were analyzed with SPSS v16 software. Results:Our findings showed the deletion of both genes and for both groups, is equal to %1/96 or frequency of the presence and absence of these genes in populations of patients and controls group were similar. Conclusion:It seems that there is no correlation between these two genes and Down syndrome.Keywords: down syndrome, polymorphism, glutathione-s-transferase-T1 and M1 MOJ Women's Health Research ArticleOpen Access A total of 100 ng of genomic DNA was used for PCR amplification, in 30μL of reaction mixture that contained 2mM MgCl 2 (Sigmaaldrich-USA) and 12.5pM each of the forward and reverse primers (Genfanavaran-Iran) and 0.5UTaq DNA polymerase (Kawsar-Iran) ( Table 2). The PCR condition was one cycle of 94°C for 5minutes followed by 35 cycles of 94°C, 59°C, and 72°C for 1min each (FlexCycler-Germany) ( Table 3). The PCR products were visualized using 1/5% agarose gel electrophoresis (Merck-Germany) in the electric current is 100volts and amps 1 MA for 55minute. DNA bands for gstm1, gstt1, and β globin alleles were 219bp, 480bp, and 268bp, respectively. The absence of bands for gstm1 or gstt1 in the presence of β globin PCR product indicates null genotype for each (Figure 1). In order to determine the optimum temperature connection, the online software Tm Calculator was used. The color used for detection of bands was GelRed (Sinacolon-Iran) that the staining was performed Pre-cast. Samples positive for all three PCR products were considered wild-type. The data were analyzed by SPSS v.16 software and ChiSquare test. Study of glutathione-S-transferase (gstm1 and gstt1) gene polymorphisms in Down syndrome patients ResultsFrom 51 Down syndrome patients and 51 healthy children as control group that involved in this study, the gstt1 and gstm1 gene deletion in the patients group and controls was identical. DNA fragments amplification GSTM1 and GSTT1 gene sequence of 480 and 215 base pairs in length, and DNA...

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Male infertility due to very severe oligozoospermia has been associated with a number of genetic risk factors.This association in patients with sperm concentration lower than 1× 106 ml are not yet fully studied.The present study aims to investigate the distribution of the mutations in the CFTR gene, the CAG repeat expansion of the AR gene as well as Y chromosome microdeletions and karyotyping abnormalities in very severe oligozoospermia patients from the Iranian population. In the present case-control study 200 severe oligozoospermia and 200 fertile males were enrolled. All patients karyotyped for diagnosis of the chromosomal abnormalities using routine. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG repeat expansion in the AR gene was evaluated for the number of repeats in each patient using sequencing. Overall, 4% of cases have a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation, G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG repeat in the AR gene in patients and controls were statistically significant (P = 0.04). Our study shows that ICSI in couples with very severe oligozoospermia can lead to an increase in children who are at risk of unbalanced chromosomal complement, male infertility due to transmission of Y-chromosomal microdeletion , AR- CAG repeat and cystic fibrosis if both partners carry the CFTR gene mutation. Genetic testing and counseling before considering ICSI is suggested for these couples.