Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...

Background: Hemoglobin D Iran is frequently misdiagnosed as Hb E or Punjab if only one method of screening used. The objective our study was to highlight the importance using two different techniques in diagnosis a hemoglobin variant, case. Hematological parameters heterozygous and compound β/Hb were also compared. Methods: A descriptive carried out on results 52,379 subjects which part thalass...

objectives and background: mutation directed inactivation of the tumor suppressor gene p53 have been found incountries with high frequency for hepatocellular carcinomas (hccs). our goal in the present study was screening of the p53 gene in tumor tissues from hcc affected individuals in southwest iran for putative mutations in exons 7 and 8 that are known as hot spot regions. materials & met...

Background: Sulfur mustard was the most widely applied chemical warfare agent by the Iraqi army in Iran–Iraq war (1983-1988). Considering the role of sulfur mustard toxicity in hematopoietic neoplasms and also new role of JAK2 mutation in these neoplasms, we assessed this mutation and delayed hematologic complications in veterans exposed to sulfur mustard. Methods: This case control st...

autosomal recessive and sporadic non-syndromic hearing loss (arsnshl) is the major form of hereditary deafness.mutations in the gjb2 gene encoding the gap-junction protein connexin 26 have been identified to be highly associated with arsnshl. in this study we have analyzed 196 deaf subjects from 179 families having one or more deaf children in 3 proviences of iran, including kordestan, khuzesta...

abstract background von willebrand disease (vwd) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. the disease phenotype is due to quantitative and structural/functional defects in von willebrand factor (vwf) which is a glycoprotein with essential role as a carrier of fviii in circulation and also it serves the function as hemostasis regulator....

Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...