نتایج جستجو برای: deletion
تعداد نتایج: 79449 فیلتر نتایج به سال:
Abstract Background Thalassemia is common in the Iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. The molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. Α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly loc...
Background: Spinal muscular atrophy includes a group of neuromuscular disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness. NAIP is one of the genes that inhibits motor neuron apoptosis. Deletion of this gene is usually observed in type I SMI. The aim of this study was to investigate the frequency and pathogenicity of NAIP...
Background and purpose: Spontaneous abortion (SA) is pregnancy termination prior to 20 weeks gestation or with a fetus born weighing less than 500 grams. The etiology of spontaneous abortion (SA) remains unclear, but it may be related to a possible genetic predisposition. The glutathione Stransferases (GSTs) are a family of enzymes involved in the detoxification of a wide range of chemicals....
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
میزان شیوع ناباروری مردان در بین زوجهای جوان 15- 10درصد تخمین زده می شود و در این بین عوامل ژنتیکی در حدود 10 درصد علل ناباروری در مردان را سبب می شوند. به همین جهت در مطالعه حاضر بر اساس مطالعات گذشته در جمعیت مردان نابارور ژاپنی، فراوانی چهار پلی مورفیسم و دو جهش در پروتامینها شامل c321t در ژن prm1 و c248t در ژن prm2 و g deletion at 1036 and 1046، g1272c و t1019g در ژن tnp2 برای اولین بار در ...
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. sma is clinically classified into three sub-groups based on the age of onset and severity. the majority of patients with sma have homozygous deletions of exons 7 and 8 of the survival motor neuron (smn) gene. the purpose of ...
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
Abstract Phytopathogens develop specialized infection-related structures to penetrate plant cells during infection. Different from phytopathogens that form appressoria or haustoria, the soil-borne root-infecting fungal pathogen Verticillium dahliae forms hyphopodia infection, which further differentiate into penetration pegs promote The molecular mechanisms underlying regulation of hyphopodium ...
Introduction & Objective: Male factor is the major cause of infertility in 20% of cases (WHO). There are known etiologies for 70% of cases .However, 30% of infertility cases are of idiopathic origin. The Y chromosome and micro deletion of the long arm of the Y chromosome (Yq) in three regions (AZFa, AZFb ,AZFc ) are associated with spermatogenic failure and is a major etiology for oligo and a...
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