نتایج جستجو برای: genetic mutation

تعداد نتایج: 825720  

2014
Suvarna Patil Manisha Bhende

Genetic algorithm (GA), as an important intelligence computing tool, is a wide research content in the application domain and the academic circle now. This paper elaborates the improvement of premature convergence in GA used for optimizing multimodal numerical problems. Mutation is the principle operation in Genetic Algorithm (GA) for enhancing the degree of population diversity, but it is prov...

Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...

ژورنال: پژوهش در پزشکی 2005
, Rakhshan M, اسماعیل حاجی نصرالله, , علی خوشکار, , محمد رخشان, , میر محسن شریفی, ,

Neurofibromatosis (Von Recklinghausen syndrome) is an autosomal dominant genetic disease caused by a mutation in the gene expressing neurofibromin. It is characterized by café-au-lait macules, axillary or inguinal freckling, multiple neurofibromas, and developmental delay. Malignant transformation or sarcomatosis may occur in as many as 1.5-15% of patients. Case report: We present a patient wi...

A. GHAEMI, B. SADEGHIAN, M. A. ALIPOUR, M. ABADI,

In this paper, we propose a genetic algorithm, called GenSPN, for finding highly probable differential characteristics of substitution permutation networks (SPNs). A special fitness function and a heuristic mutation operator have been used to improve the overall performance of the algorithm. We report our results of applying GenSPN for finding highly probable differential characteristics of Ser...

Journal: :Bone 2021

Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene...

Journal: :BioCosmos 2023

Abstract Synonymous mutations in a protein coding gene lead to remarkably similar average “collateral” mutation effect size across alternative reading frames (1). Here we quantify the rarity of this feature among possible block structure codes as 0.77%. Then develop simple model evolutionary search with two types mutation. Across different step sizes and ratios types, fitness-maximizing region ...

Journal: :iranian journal of public health 0
abdelbasset amara unit of molecular endocrinology, sousse faculty of medicine, university of sousse, sousse, tunisia ; laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia. ilhem ben charfeddine laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia. houda ghédir laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia. ons mamaï laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia. saloua jemni-yacoub regional center of blood transfusion of sousse, sousse, tunisia. larbi chaieb dept. of endocrinology and diabetology, farhat hached university hospital, sousse, tunisia.

hnf4a-p.i463vvariant, reported previously in two distinct families suspected of mody-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 tunisian healthy people were screened for the presence of hnf4a-p.i463v variant, using rflp-pcr technique and sequencing. then, the frequency of this variant was estimated in the tunisian population and com...

Journal: :iranian journal of public health 0
samira asgharzade somayeh reiisi mohammad amin tabatabaiefar morteza hashemzadeh chaleshtori

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...

Molly Madan, Salman Khan, Sunil Kumar Virmani,

Background: Genetic changeability of hepatitis B virus (HBV) signifies a challenge for the sensitivity of immunologic and molecular diagnostics. Therefore, knowing the spread of HBV genotypes (GENs) and mutation has considerable impacts on treatment strategies, vaccination program, diagnosis, and prevention. The present study aimed to detect HBV GENs and mutants in HBsAg-positive patients. Meth...

Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...

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