INTRODUCTION Osteoprotegerin (OPG), a soluble decoy receptor secreted by osteoblasts, binds RANK-L, preventing stimulation of osteoclastogenesis. In the present study we aimed to investigate the impact of OPG variants and susceptibility to childhood acute lymphocytic leukemia (ALL) in a sample of Iranian population. METHODS This case-control study was done on 98 ALL and 124 healthy children. ...

Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). ...

jak2 is a tyrosine kinase that plays an important role in the signaling pathways of many hematopoietic growth factor receptors. a single acquired point mutation – v617f – in jak2 occurs in the great majority of patients with polycythemia vera (pv) and approximately half of the patients with idiopathic myelofibrosis (imf) or essential thrombocythemia (et). in contrast, the jak2-v617f mutation is...

introduction: osteoprotegerin (opg), a soluble decoy receptor secreted by osteoblasts, binds rank-l, preventing stimulation of osteoclastogenesis. in the present study we aimed to investigate the impact of opg variants and susceptibility to childhood acute lymphocytic leukemia (all) in a sample of iranian population. methods: this case-control study was done on 98 all and 124 healthy children. ...

results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...

schizophrenia is a severe neuropsychiatric disorder with symptoms such as hallucination, delusion and mental disorder. it is a complex disorder, in which genetic components play a crucial role in its pathogenesis. among candidate genes for schizophrenia, neuregulin 1 (nrg1) gene is the most important gene,  association of which with the illness has been confirmed in several studies. single nucl...

We describe a method for producing specific PCR primers directly from PCR product, bypassing the usual need to know the primer sequence. Lack of abundance of primers derived from a PCR product is compensated for by the incorporation of an arbitrary 5'TAG sequence which acts as a surrogate template target for the bulk amplification phase. We use the technique to amplify clonospecific rearranged ...

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 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 ...