نتایج جستجو برای: amplified refractory mutation system
تعداد نتایج: 2553865 فیلتر نتایج به سال:
background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...
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: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of this study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population. Materials and Methods: This is a descriptive study and Blood samples were ...
this study was conducted in order to investigate the association between the single nucleotide polymorphism (snp) rs2305957 g/a and recurrent pregnancy loss (rpl) in a group of palestinian women residing in gaza strip. a retrospective case-control study was carried out during the period of may to august 2015. a total of 380 females including 190 recurrent pregnancy loss (rpl) patients and 190 c...
immunodeficiency and autoimmune disease may occur concomitantly in the same individual. some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. persistent antigen stimulation due to an inherent defect in the ability of the immune syst...
background: the pathogenesis of migraine involves immune-mediated mechanisms in the vascular endothelium. toll like receptor 4 (tlr-4) is a signaling receptor of innate immunity which plays a role in various neuropathologies related to neuron inflammation. objective: this case/control study is aimed to investigate whether tlr- 4 896a/g variation is related to migraine headaches in an iranian po...
BACKGROUND Clarithromycin is one of the most important antibiotics for Helicobacter pylori eradication. However, 5-10% of strains are reported to be resistant. It has been shown that one point mutation in the 23S rRNA gene is associated with resistance to clarithromycin. AIMS To establish a polymerase chain reaction (PCR) system which amplifies a segment of the 23S rRNA gene containing the mu...
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs). The multiplex system comprises two snapback versus limiting primer sets for JAK2 and MPL mutation enrichment and detection, respectively. Linear-After exponential (LATE) PCR strategy was employed f...
Background: Acute myelocytic leukemia (AML) is a clonal malignancy resulting from the accumulation of genetic abnormalities in the cells. Human baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5), encodes survivin, is one of only a handful of genes that is differentially over-expressed in numerous malignant diseases including AML. Methods: The BIRC5 was silenced permanently in two AM...
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