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...

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 ...