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...

background: the kiss peptins and its receptor g protein coupled receptor (gpr54) or kiss1 receptor system are being described as key signaling molecules for reproductive function in animal models and humans. they play essential roles in regulation of the hypothalamic- pituitary- gonadal (hpg) axis and the onset of puberty and fertility. objective: this study was performed to delineate the assoc...

the aim of this study was to analyze the polymorphisms existing in the 5´ flanking region, exonic, and some parts of the intronic regions as well as methylation analysis of the ednrb gene in cattle and goat. these regions were sequenced in three different breeds of cattle including sistani, golpayegani, and holstein and were compared with that of marghoz goat. the results identified that this g...

background the x-linked cyclin-dependent kinase like 5 (cdkl5/stk9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. cdkl5 mutations have been shown to be more frequent among female patients. results here we report a 6- month male patient, second child of a healthy non consanguineous in the irani...

objective(s):phenylketonuria (pku) is a genetic inborn error of phenylalanine (phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (pah), which leads to elevated levels of phe in the blood. the present study was carried out for mutation analysis of the pah gene in west azerbaijan province of iran. materials and methods:a total of 218 alleles from 40 pku...

Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...