Background: In prostate cancer, mutated p53 alleles typically contain missense single-base substitution in codon 72 that resides within exons 5-8. Stable p53 proteins in tumor cell nuclei have been associated with malignancy. A role of p53 is the regulation of drug transporters like ABCC1 (MRP1) by an effect on promoter region.Objectives: The objective of this study was to identify association of mutations of p53 at codon 72 and 282 and promoter region of ABCC1 with increased risks of prostate cancer.Materials and Methods: Formalin fixed, paraffin-embedded malignant tissues of 45 patients and 45 control samples were evaluated. PCR-RFLP using BstUI for codon 72 and HpaII restriction enzyme for codon 282 p53 gene, and G-1666A promoter region of ABCC1 gene was performed. To assess the frequency of these mutations and to detect new mutations in cancerous samples, PCR-SSCP analysis was performed.Results: The frequencies of CC, GC and GG genotypes of codon 72 of p53 were 33.33%, 46.67% and 20.00% in patients with cancer and 15.56%, 48.89% and 35.55% in controls, respectively. The relative allele frequencies of ABCC1 promoter polymorphism were 60.00% A and 40.00% G in patients as opposed to 37.78% for A and 62.22% for G in controls.Genotypic frequencies of p53 codon 72 and G1666A of ABCC1 in patients vs. Controls were statistically significant (p<0.05). The study of these samples with PCR-SSCP displayed some new banding patterns.Conclusions: The present findings suggest that CC homozygosity in codon 72 of p53 gene and AA genotype in G-1666A of ABCC1 gene may play a role in combination in prostate cancer and increased susceptibility for this malignancy in the Iranian Kurdish population.

The aim of this study was to use site directed mutagenesis technique to construct a vector in which serine363 and serine375 residues of the COOH-terminal portion of the m-opioid receptor (MOR) were substituted by alanine. These constructs are essential in studying G-protein coupled receptor kinase-mediated MOR desensitization. The nested PCR carried out for conversion of serine363 and serine375 to alanine resulted in the production of a band comparable to the expected size of 1400 bp. Restriction analysis of these bands confirmed the integrity of the PCR products. Ligation of the mutated PCR product into pcDNA3 and its digestion with appropriate restriction enzymes further confirmed the integrity of the PCR product and its orientation into the vector.

Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders. Objective: Here, we describe the hidden layer of computational biology information of rare Codons in ATP8B1, which can help us for drug design. Methods: Some rare Codons in different locations of ATP8b1 gene were identified using several web servers and by in-silico modelling of ATP8b1 in Phyre2 and I-TASSER server, some rare Codons were evaluated. Results: Some of these rare Codons were located at special positions which seem to have a critical role in proper folding of ATP8b1 protein. Structural analysis showed that some of rare Codons are related to mutations in ATP8B1 that are responsible for PFIC1 disease, which may have a critical role in ensuring the correct folding. Conclusion: Investigation of such hidden information can enhance our understanding of ATP8b1 folding. Moreover, studies of these rare Codons help us to clarify their role in rational design of new and effective drugs.

Luciferase enzymes are involved in the bioluminescence reaction (light emission by living organisms), The bioluminescence process is a widespread phenomenon in the Nature, These enzymes are identified in some domains of life, but the luciferases from lampyrid genus are considered of for biological applications, The molecular cloning of a new type of firefly luciferase from Luciola lateralis was reported, previously, Here, we study its substrate binding site and rare codon with molecular docking and bioinformatics studies, By molecular modelling, some rare Codons were identified that may have a critical role in structure and function of this luciferase, AutoDock Vina was used in the molecular docking that recognizes some residues that yield closely related with luciferin and AMP binding site, These types of studies help in the discovery of the light production reaction, Evaluation of these hidden information’ s can improve the knowledge of luciferases folding and protein expression challenges and help in design of new drugs,

Objectives: Congenital prothrombin (factor II) deficiency is an inherited rare bleeding disorder with an autosomal recessive manner. The prevalence of this disorder is about one in 2 000 000 people in general population, but it is more common in areas with a high rate of consanguinity. To date, there is no report on the absence of prothrombin, which is a life-threating disorder. Considering the importance of factor II in body homeostasis, this study aimed to find any possible mutation of coagulation factor II Codons in patients with inherited factor II deficiency in southeastern Iran. Materials and Methods: This study was conducted on 12 patients with inherited deficiency of prothrombin. Early diagnosis was based on clinical symptoms, laboratory evaluation, and family history. Then, the function level of prothrombin was measured, the initial diagnosis of disease was confirmed, and polymerase chain reaction (PCR) analysis was performed. Finally, gene sequencing and genotyping of factor II was done. Results: Molecular analysis indicated a point mutation in exon 7 in three patients and a frameshift mutation in exon 14 due to addition of a thymine base at position 1760-1761 in one patient, both of which have been reported for the first time. Conclusions: Molecular methods performed on patients from Southeastern Iranian population in terms of coagulation factor II deficiency revealed a substitution mutation in exon 7 in three patients and a frameshift mutation in exon 14 in one patient, both of which were reported for the first time. Considering the significant difference between the clinical symptoms of the present study and previous studies, probably the type of mutations reported in this study (for the first time) caused these clinical symptoms, but statistical studies did not show any relationship between the type of mutation and the occurrence of clinical symptoms. And it needs more investigations on more patients, with a larger population.

Introduction: Endometriosis is a prevalent gynecological disorder among women which is diagnosed by the growth of endometrial tissue outside of uterus and is mainly accompanied by severe pelvic pain and infertility. P53 also known as cellular tumor antigen P53 inside Codons 11, 72 and 248 are contained with single nucleotide changes in which tends to be nearly rampant. This will probably be increasing the chances of endometriosis infection to some great extent. Our aim was to evaluate the connection between endometriosis and polymorphism inside the Codons 11, 72 and 248 of P53 gene.Methods: In this study, single nucleotide changes in Codons 11, 72 and 284 of TP53 gene among 44 persons infected with endometriosis and the same studying population for noninfected group have been examined. After primer design and amplification of polymorphic sequences by PCR, the polymorphisms of related Codons have been evaluated by the digestion method (RFLP).Results: In this study on the codon 72, there were seen differences in the distribution of genotype frequencies of normal polymorphic subjects and control subjects with endometriosis. At Codons 11 and 248, there were observed no significant correlations between polymorphic and normal genotypes of endometriosis and non-endometriosis groups.Conclusion: According to the results, we can say that probably polymorphism.