نشریه دانش زیستی ایران
سال پانزدهم شماره 4 (زمستان 1399)

Neurofibromatosis is a skin-neurological disease characterized by tumours around the nerves. The NF1 gene has 350kb long and contains 60 exons and encodes a protein called neurofibromin. Due to the large size of the NF1 gene and the diversity of mutations, identifying mutations in this gene is a major challenge. In this study, 10 patients with Type 1 neurofibromatosis were taken and genomic DNA was purified using salting out method. Following the design of the primers, sequencing was performed after amplification of the 15 exon fragments using PCR. Finally, sequenced fragments were compared with reference exons using the Pairwise Sequence Alignment software, and mutations were identified by considering the polymorphism and variants. The results showed that small-scale mutations such as deletion, insertion, replacement in exons of NF1 gene were present, as well as exons 40 (c.5811-5811 delT), exon 35 (c.4537 C>T) and exone 41-42 ( c.6259-6260 insA .( In conclusion, these results help to better understand the molecular mechanisms of the disease, as well as genetics counseling of NF1.

Infertility and its problems are considered as one of the most important issues that affect 10-15% of couples. About half of all infertility is related to men. Human spermatogenesis depends on the activity of thousands of genes, and defects in repair mechanisms can stop spermatogenesis. One of the proteins involved in the repair system is the MLH1 protein. The aim of this study was to investigate the association of rs1800734 and rs4647269 polymorphisms in the MLH1 gene with male azoospermic infertility.

In this case-control study, blood samples were collected from 113 men with azoospermia infertility as a patient and 101 healthy men as a control. After DNA extraction, the genotypes of rs4647269 and rs1800734 polymorphisms were determined by RFLP-PCR method using HPYCH4IV and PVUII enzymes, respectively, and confirmed by sequencing.

In rs1800734 polymorphism, no significant difference (p <0.05) was observed between the genotypic frequency of the patient and control groups. There was a significant difference between genotypic frequencies between the two groups (P = 0.024), P = 0.021, P = 0.036) Also in this polymorphism in terms of sperm volume in traits (P = 0.000).

There is a significant relationship between rs4647269 rs polymorphism of MLH1 gene and azoospermia infertility in the study population of Iranian men and it can probably be effective in it.

Identification, species diversity and abundance of Nemacheilidae were carried out in the rivers of Tehran province from autumn 2018 to autumn 2019 for twelve months. For this purpose, 10 sampling stations were selected. The samples were catching by electroshock, then fixed with alcohol and transferred to laboratory for biometry. The results of this study showed that three species belonging to the Nemacheilidae live in Jajrood, Hablehrood and Lar Rivers in Tehran province. Oxynoemacheilus bergiana with 77.27% highest and Paracobitis iranian with 15% and Oxynoemacheilus angorae with 7.73% lowest species diversity at selected stations. Also in Saeedabad station, the frequency of Oxynoemacheilus bergiana was 77.27% and Paracobitis Iranian was 3.18%. At Khojir station, the frequency of Paracobitis iranian was 3.63%. In Zarrin Dasht and Simin Dasht stations, the frequency of Paracobitis iranian is equal to 4.1%. At Lar dam and Delicha stations, the abundance of Oxynoemacheilus angorae was 5.45% and 2.27%, respectively. Also, the highest density of fish caught in the season belonged to summer, autumn, spring and winter, respectively. The frequency of Oxynoemacheilus bergiana was 34.1% in summer, 20% in autumn, 11.8% in winter and 11.336 in spring. Paracobitis iranian was 8.63% in summer and 6.37% in spring. Oxynoemacheilus angorae was 5.45% in summer and 2.28% in autumn.

In the present study, effect of Equisetum arvense aerial part hydro-alcoholic extracts on calcium oxalate crystallization was studied in male rats. At first, hydro-alcoholic extract of Equisetum arvense at doses of 25, 50 and 100 mg/kg were prepared. Crystallization of calcium oxalate was induced by adding ammonium chloride and ethylene glycol in drinking water for 3 and 38 days, respectively. Control group was treated by drinking water. Experimental groups were treated by extract at doses 25, 50 and 100 mg/kg for 38 days. After 38 days, animals were anesthetized by ether and left kidneys removed and put them in buffered formaldehyde. Specimens were prepared for histological studies and stained by H&E. Results showed that treatment of extract decreased number of crystals in kidney sections of experimental animals in comparison with control group. Also, administration of plant extract decreased tubule-interstitial damages in treated animals. Also, the extract decreased tubule-interstitial damages of tissue in treated animals. So, the treatment of plant could be confirmed by this research.

In the present study, effect of Coriandrum sativum L. seeds hydro-alcoholic extract on calcium oxalate crystallization was studied in male rats. At first, hydro-alcoholic extract of plant at doses of 100, 150, 200 and 300 mg/kg were prepared. Crystallization of calcium oxalate was induced by adding ammonium chloride and ethylene glycol in drinking water for 3 and 35 days, respectively. Control group was treated by drinking water. Experimental groups were treated by extract at doses 100, 150, 200 and 300 mg/kg interperitoneally for 38 days. After 38 days, animals were anesthetized by ether and left kidneys removed and put them in buffered formaldehyde. Specimens were prepared for histological studies and stained by H&E. Results showed that treatment of extract decreased number of crystals in kidney sections of experimental animals in comparison with control group. Also, administration of plant extract decreased tubule-interstitial damages in treated animals. So, the plant could prevent formation of primary nucleus of kidney stones.

Behcet's disease is a chronic autoimmune disease that can affect many body systems. Various reasons have been known for Behcet's disease, including genetic and environmental factors. However, approximately of Behcet disease have still unknown causes. Gene polymorphisms may effect on the incidence of Behcet disease. present study was aimed to the association of two SNPs in RORA genes in patients with Behcet disease.In this study, 100 people with Behcet disease were selected as patients Also 100 normal people were chosen as controls. Genomic DNA was extracted . The polymorphism of rs11639084 and rs4774388 of RORA gene were studied by using 4ARMS-PCR technique. Differences between allele and genotype frequency in two grouped were calculated by chi square test with p value>0.05. Logistic regression test were used for estimating odd ration and 95% CI by using SPSS ver.16 software.The frequency of three genotypes of CC, CT, and TT polymorphism rs11639084 in the patient group was 67, 30 and 3, respectively, and in the control group, 61, 28 and 11, respectively. The frequency of three genotypes of CC, CT and TT polymorphism rs4774388 in the patient group was 7, 40 and 53 and in the control group 21, 60 and 19. Finally, statistical analysis showed that there is a significant difference between the allele frequency of rs11639084 and rs4774388001 in patient samples and control samples.It was concluded that there is a significant relationship between some polymorphisms in RORA gene and Behcet's disease, which requires further studies in this regard.