Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

In northern provinces of Iran high rates of incidence of glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency have been reported and most of these patients carry one of the three common G6PD gene mutations: Mediterranean, Chatham or Cosenza. The aim of this study was to investigate prevalence of each of these mutations among neonates in Mazandaran, a northern province of Iran. Four hundre...

beta thalassemia is the  most common autosomal recessive disorder. the present study reports a rare β globin gene mutation, hbb: c.180g>a: codon 59 (aag/aaa), in a patient from gilan province, northern iran. nucleotide sequencing of amplified dna belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a g>a conversion at the third position of codon 59 o...

objective: colorectal cancer (crc) is one of the most common and aggressive cancers worldwide. the majority of crc cases are sporadic that caused by somatic mutations. the adenomatous polyposis coli (apc; omim 611731) is a tumor suppressor gene of wnt pathway and is frequently mutated in crc cases. this study was designed to investigate the spectrum of apc gene mutations in iranian patients wit...

background: ghezel sheep are highly prolific and one of the local sheep breeds in iran and turkey. growth differentiation factor-9 (gdf9) gene has been found to be essential for growth and differentiation of early ovarian follicles. novel mutations in gdf9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. therefore, fecundity gene for gdf9 (fecg...

background gastrointestinal stromal tumors (gists) are potentially malignant tumors; however their behavior and response to treatment is dependent on the type of mutation and immunohistochemical expression of antigens. it is recommended to perform routine molecular and immunohistochemical tests in kit and platelet derived growth factor receptor alpha (pdgfra) molecules for making decision regar...

There are very few studies about K-ras mutations in colorectal cancer (CRC) from developing countries such as Iran. It is therefore essential to conduct studies to learn about the molecular signature of such tumors, allowing the determination of an appropriate management plan. In the present study, we aimed to determine the frequency and types of K-ras mutations among patients with CRC in Iran....

BACKGROUND Hepatitis B virus (HBV) infection is an important health concern worldwide, with critical outcomes. Hepatitis B e antigen (HBeAg) negative chronic hepatitis B is frequently caused by a mutation (G1896A) in the hepatitis B virus (HBV) precore (PC) reading frame, which creates a stop codon, causing premature termination of the HBe protein. OBJECTIVES This study aimed to investigate t...