background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

background : we conducted the present study to investigate the frequency of prothrombin g20210a mutation among acute lymphoblastic leukemia patients and healthy individuals from western iran and to detect the possible association between this mutation and the risk of acute lymphoblastic leukemia in our population. methods : the studied groups consisted of 92 children with acute lymphoblastic le...

glucose-6-phosphate dehydrogenase (g6pd) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. it is also characterized by remarkable molecular and biochemical heterogeneity. according to previous investigations, g6pd cosenza (g1376c) is a common g6pd mutation in some parts of iran. therefore in the present...

background and objectives: jak2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. jak2v617f mutation is characterized by a g to t transverse at nucleotide 1849 in exon 12 of the jak2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the jak2 protein. in this study we compared two molecular methods ...

background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequ...

The present study is an attempt to propose a mutation-based real-coded genetic algorithm (MBRCGA) for sizing and layout optimization of planar and spatial truss structures. The Gaussian mutation operator is used to create the reproduction operators. An adaptive tournament selection mechanism in combination with adaptive Gaussian mutation operators are proposed to achieve an effective search in ...

background: trichomonas vaginalis causes trichomoniasis and metronidazole is its chosen drug for treatment. ferredoxin has role in electron transport and carbohydrate metabolism and the conversion of an inactive form of metronidazole (co) to its active form (cpr). ferredoxin gene mutations reduce gene expression and increase its resistance to metronidazole. in this study, the frequency of ferre...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...