background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

background and objective: molecular epidemiological studies have shown that certain genotypes of mycobacterium tuberculosis (mtb) are over-represented in limited geographical regions, suggesting of evolution of certain genotypes with increasing virulence and pathogenicity. beijing strain of mtb was initially described by its potential to cause outbreaks worldwide and its association with drug r...

severe  congenital  neutropenia  (scn)  is  a  rare  primary  immunodeficiency   disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr  and  g6pc3.  the  aim  of  this  study  was  to  find  different  gene  mutations responsible for scn in iranian patients. twenty-seven   patients   with   scn  referred   to  immunology,   asthma   and  allergy r...

background: alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. the aim of this study was to investigate the spectrum of α-thal mutations among premarital baluch couples in southeastern iran. subjects and methods: we assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-pcr) and amplification refractory mutation system (arms-pcr). results: of t...

conclusions the mutation ratio difference between genotypes b and c in children was higher than that of adults and several combined mutations were exclusively detected in children with chronic hbv genotype c infection associated with higher viral load. objectives the aim of this study was to assess the mutation profiles of bcp and precore regions in different hbv genotypes in chronically infect...

abstract background: investigators were suspicious of tyrosine-methionine-aspartate-aspartate (ymdd) mutations occurred only in patients who were treated by lamivudine. however, ymdd mutations of hepatitis b virus gene (hbv dna) in patients with chronic hepatitis b (chb) untreated with antiviral medicines was reported in some studies. the aim of this study was to evaluate ymdd mutations in iran...

black forest horses are typically chestnut colored with flaxen mane and tail. however, as their coat color can get very dark, they are sometimes also indicated as silver, a color depending on a black base color. to analyse if the silver allele is present in the black forest horse population, we genotyped 250 horses of this breed for formerly reported coat color mutations within mc1r and silv. a...

background congenital factor xiii (fxiii) deficiency is a rare severs autosomal recessive bleeding disorder. objectives the aim of the study was to determine the c559t > c fxiiia genotype frequency in patients with fxiii hemophilia who lived in sistan and balouchestan province in southeast of iran. patients and methods we determined the genotype of 180 patients with factor xiii hemophilia by te...

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...