نتایج جستجو برای: mutation analysis
تعداد نتایج: 3045422 فیلتر نتایج به سال:
The main objective for plant breeding is to increase genetic diversity. Mutation induction is a method to increase genetic diversity associated with selection, recombination, or a combination of these approaches in plant breeding. The present research was aimed to compare efficacy of different doses of Gamma rays (150, 200, 250, 300 and 350 Gy and zero dose control) on the sesame morphological ...
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
background: ghezel sheep are highly prolific and one of the local sheep breeds in iran and turkey. growth differentiation factor-9 (gdf9) gene has been found to be essential for growth and differentiation of early ovarian follicles. novel mutations in gdf9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. therefore, fecundity gene for gdf9 (fecg...
cockayne syndrom: reporting a cases from iran confirmed by dna-repair and direct sequencing analysis
cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging,...
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...
Introduction: Mutations in the BRCA1 gene are major risk factors for breast and ovarian cancers. However, the relationship between some BRCA1 mutations and cancer risk remains largely unknown. Cancer risk predictions could be improved by evaluation of the impairment degree in the BRCA1 functions due to a specific mutation. This study aimed to assess the functional effect of a novel variant (Glu...
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
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