نتایج جستجو برای: genetic mutation
تعداد نتایج: 825720 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 ...
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
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 ...
Background and purpose: 5-Flourouracil (5-FU) is one of the most common chemical drugs used in chemotherapy of patients with cancers. Dihydropyrimidine dehydrogenase (DPD) is a critical enzyme in the catabolism of 5-FU. More than 80% of the administered 5-FU is catabolized by DPD. c.1905+1G>A mutation on DPD gene is the most important mutation associated with DPD enzymatic deficiency which lead...
background: sulfur mustard was the most widely applied chemical warfare agent by the iraqi army in iran–iraq war (1983-1988). considering the role of sulfur mustard toxicity in hematopoietic neoplasms and also new role of jak2 mutation in these neoplasms, we assessed this mutation and delayed hematologic complications in veterans exposed to sulfur mustard. methods: this case control study was p...
this is the first description of the polymorphisms of arylalkylamine-n-acetyltransferase (aa-nat) gene in indian goats with different reproductive traits (twinning percentage and age of sexual maturity). based on the important role of aa-nat in reproduction, it is considered as a possible candidate gene for this trait. two novel synonymous snps, c825t (exon2) and c1249t (exon3) were identified....
Objective: About 50% of severe to profound intellectual disabilities (ID) are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had...
Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death. Genetic factors play an important role in the development of breast cancer. Among these genetic factors, CHEk2 (checkpoint kinase 2) gene, as a tumor suppressor gene, plays a critical role in DNA repair. Germline mutations in CEHK2 result in the loss of this feature. On...
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...
dystonia is a movement disorder that causes sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs. inherited dystonias can be classified as primary dystonia, dystonia-plus, heredo-degenerative dystonia, and paroxysmal dyskinesias with dystonia. the primary dystonias are those with no other neurologic abnormalities. primary...
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