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Search Results: 1 - 10 of 2251 matches for " genetics "
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Analogies for Teaching Mutant Allele Dominance Concepts  [PDF]
Rebecca L. Seipelt-Thiemann
Creative Education (CE) , 2012, DOI: 10.4236/ce.2012.326133
Abstract: Analogies connect new and familiar concepts and ideas by providing a comfortable and known framework within which students can integrate new concepts. Use of analogies to aid understanding of abstract and/or complex ideas is commonly used in molecular sciences, such as genetics, molecular biology, and biochemistry. Five analogies for different mechanisms of mutant allele dominance, a seemingly counter-intuitive idea in genetics, were designed and assessed in an upper division undergraduate/masters level course. Each of the five mechanisms, haploinsufficiency, acquired function, poison product, increased activity, and inappropriate expression, was described in the context of a human disease and molecular mechanism and followed by a descriptive analogy which mirrored the molecular mechanism using real world items or a video clip. The majority of students reported increased interest, understanding, and engagement following the analogies, as well as decreased confusion.
Obesity: Nutrition and Genetics—A Short Narrative Review  [PDF]
José M. Tallon, Janine Narciso, Ana Barros, Ana Pereira, Aldo M. Costa, António J. Silva
Health (Health) , 2018, DOI: 10.4236/health.2018.1012134
Abstract: Obesity has become a major global health challenge and it is a risk factor for the development of several comorbid conditions. Additionally, obesity has considerable economic consequences. Obesity is a multifactorial condition that arises from independent influences of genetic and social-environmental factors on food intake and physical activity. It has been difficult to establish clear associations between weight status and the intake of single foods or food groups. In most people, the predisposition to obesity has a polygenic basis, which means that obesity will develop if an individual has several polygenic variants that increase body weight. The FTO gene was the first GWAS-identified obesity-susceptibility gene and since then other polygenic variants that are associated with BMI and dietary intake have also been identified. However, this is still an active area of research as more polygenetic variants await discovery.
Heredity of psoriasis
Beli? Dobrila,Risti?-Nikoli? Sonja,Damjan Saveta,Ratkov Iljana
Medicinski Pregled , 2004, DOI: 10.2298/mpns0404171b
Abstract: INTRODUCTION Epidemiological studies of twins show that there is a genetic predisposition to psoriasis. Researches conducted so far show that psoriasis is a multifactorial polygenetic disease with reduced gene penetration. They also show that heredity is more significant than the "trigger" factor whose influence is limited to the exchange of phenotypes. Researches in USA, Canada and Europe identified four most important loci (psoriasis susceptibility - 1-4). At least one is in MHC (major histocompatibility complex) due to the connection between psoriasis and alleles of human leukocyte antigen (HLA). OBJECTIVE Our study included 117 patients and examined the indicators of genetic predisposition to psoriasis: frequency of psoriasis among relatives of psoriatic probands; frequency of psoriasis among relatives (I and II degree) of psoriatic patients; age of probands and other relatives at the onset of illness. Material and methods We have used a structured questionnaire for collection of data about existence of psoriasis in relatives of I and II degree of psoriatic probands and about the age of probands and relatives at the time of onset. Results and discussion Twenty six (21.85%) probands have at least one ill relative. The examined patients who have diseased relatives get ill much earlier than those who do not. Probands with two or more diseased relatives get ill much earlier than those who have just one diseased relative. Analysis of our sample shows a significant statistical difference regarding the onset of illness of diseased parents and their children. Children get ill earlier. CONCLUSIONS We have concluded that in our sample there is a hereditary component which is related to frequency and onset of psoriasis.
Genetic variability of the Saudi Arabian Uromastyx aegyptia microlepis using protein and isoenzymes electrophoreses  [PDF]
Sayed Amin Mohamed Amer
Advances in Bioscience and Biotechnology (ABB) , 2011, DOI: 10.4236/abb.2011.21005
Abstract: Electrophoresis for SDS-proteins and isoenzymes were conducted to investigate the genetic variations within the agamid lizard Uromastyx aegyptia microlepis inhabiting the desert of Saudi Arabia. Samples were collected from four localities: a) Ushayrah near the town of Taif, b) Al Gwaih near Riyadh, c) Nairyah near Dammam and d) Mouileh near Tabok. A range of 7 to 14 protein bands were recorded in the patterns of the studied samples as measured by SDS-polyacrylamide gel electrophoresis. Among them, only one fraction was recorded in all samples as a common protein band. Six arbitrary chosen enzymes were examined by native-polyacrylamide gel electrophoresis. They were α and β esterase (Est), acid phosphatase (Acph), Alcohol dehydrogenase (Adh), Aldehyde oxidase (Ao) and peroxidase (Px). Seventeen heterogeneous alleles have been recorded; seven of them were fixed in all populations and 10 were polymorphic. Nearly all recorded alleles were monomeric in all samples. α-Est2, β-Est2, Acph2 and Px1 were restricted to Tabok samples and were not recorded in other localities. β-Est3, Acph3, Adh1, Adh1and Px2 were not recorded in Taif samples and the latter one was not recorded in the Dammam samples. The similarity coefficient that has been calculated according to the number of sharing bands indicated the clustering of Tabok and Dammam populations together. The constructed tree based on the sharing protein bands and isozyme alleles revealed similar results regarding the kinship of both populations. The present results indicated that the populations of this subspecies exhibits high genetic variability among its populations.
Proteinuria in Hypertensive Nephropathy: A Review  [PDF]
Rishi Sharma, Surineni Kamalakar, Ellen McCarthy, Timothy A. Fields, Kamal Gupta, Rajat Barua, Virginia Savin
Open Journal of Nephrology (OJNeph) , 2014, DOI: 10.4236/ojneph.2014.42013

Hypertension defined as a systolic blood pressure of ≥140 and a diastolic blood pressure ≥90 is anextremely prevalent condition; and it is responsible for significant mortality and morbidity. NHANESdata from 2005-2006 found that nearly 30% of adult US population has HTN; and nearly 8% of the population has undiagnosed HTN. HBP mortality in 2008 was 61,005. Any mentioned mortality in 2008 was 347,689 (NHLBI tabulation of NCHS mortality data). More than 20% of patients with systemic hypertension have chronic renal insufficiency (NHANES). Hypertensive nephropathy is a leading cause of end-stage renal disease (ESRD) requiring dialysis or transplantation or leading to death. The incidence of hypertension is high but only a subset of hypertensive patients progress to frank renal failure. A subset of hypertensive patients develop proteinuria during the course of disease and manifest nephrotic syndrome. This syndrome includes marked proteinuria, edema, and low serum albumin. Neither the incidence nor the clinical significance of proteinuria in hypertension without diabetes is known. Progression to chronic renal failure in some patients is preceded by proteinuria as indicated on “dip-stick” analyses of random urine samples. It appears that proteinuria is likely to increase both prior to and during evident loss of glomerular filtration, but this clinical observation has never been formally confirmed. There is a need for large studies to answer these questions. We also need to focus on the roles that genetic and environmental factors play in development and progression of renal disease in the setting of hypertension and proteinuria.

Thermodynamics of Aging and Heredity  [PDF]
Georgi P. Gladyshev
Natural Science (NS) , 2015, DOI: 10.4236/ns.2015.75031
Abstract: A brief review of the author’s works in the sphere of thermodynamic theory of aging is presented. Particular attention is given to justification of the methods of classical and near-equilibrium “dynamic” thermodynamics used to assess the direction and extent of ontogenesis. It is noted that discovery of the law of temporal hierarchies and the substance stability principle made it possible to use quasi-equilibrium thermodynamics to describe aging of organisms and evolution of the living world. The review contains certain examples confirming thermodynamic direction of the origin of life and its development. The author states that supramolecular thermodynamics is the foundation of modern epigenetics. The review shows that the environment affects the composition and structure of the genetic apparatus as well as gene expression through the mechanisms of hierarchical thermodynamics. The author discusses the influence of “nutritive molecules” and other biological substances on tissue composition. It is noted that “nutritive molecules” can have an epigenetic influence on DNA and genetic apparatus as a whole. The author gives recommendations regarding nutrition and use of medicines from the perspective of the thermodynamic theory of aging. Though the author used simplifications and approximations when developing the thermodynamic theory of living beings’ aging, the theory is in agreement with the detected correlation between changes in the specific Gibbs free energy of supramolecular structure formation and changes in the chemical composition of body tissues during aging. The author believes that hierarchical thermodynamics is the foundation of Darwinian natural selection.
Evolutionary Genetics of Invasive Mammal Species Introduced in Argentina  [PDF]
Marta S. Lizarralde, Mariana Fasanella, Sebastián Poljak, Magali Gabrielli, Julieta Sanchez
Natural Science (NS) , 2018, DOI: 10.4236/ns.2018.107024
Abstract: Evolutionary genetics of invasive species has been unexplored in Argentina. Invasive alien species (IAS) have a wide geographical distribution, characteristic life cycles and great ability to adapt, establish and spread in a new environment. Recent advances in novel molecular technologies, the use of higher resolution genetic markers, and the research development on genetic variation of invasive species consolidated the importance of genetic aspects in the invasion process. Undoubtedly, the growing concern for the disturbances generated by invasive species on biodiversity and functioning of ecosystems was also determinant for the inclusion of the Invasion Biology within the broad field of Evolutionary Biology including relevant examples that address the evolutionary genetic aspects of biological invasions. Recent studies suggest that the invasion success of many species depends on their ability to respond to natural selection. Although the number of invasive species registered in Argentina far exceeds 600, little research has been done on invasive mammal species and only five of them were hitherto genetically analyzed. Presuming that invasion genetics is incorporated into the agenda of control and management organizations, it would allow integrating the ecological, genetic, and evolutionary biology aspects for knowledge of invasive species widely distributed in Argentina. The objective of this article is to highlight the importance of evaluating the genetic structure of invasive species for their management and to inform about the invasive species of mammals that were introduced in Argentina and have been or are being analyzed genetically.
Catechol-O-Methyl Transferase (COMT) Enzyme Gene Variations in Patients with Idiopathic Scoliosis: A Clinical Chart Review  [PDF]
Mark W. Morningstar, Megan N. Strauchman, Clayton J. Stitzel, Brian Dovorany, Aatif Siddiqui
Open Journal of Genetics (OJGen) , 2018, DOI: 10.4236/ojgen.2018.83004
Abstract: The effects of genomic variations and their associations with idiopathic scoliosis have been the discussion of many research trials. Previous investigations into catechol-o-methyl transferase (COMT) have identified its importance in dopamine and estrogen metabolism. While many genetic influences on idiopathic scoliosis have been observed, there has been no report of any relationship between COMT mutations and idiopathic scoliosis. The present study compared two groups of patients who received COMT genetic testing. The first group had a history of idiopathic scoliosis, while the other served as a non-scoliotic control group. The scoliosis group showed a positive COMT mutation in 33 out of 58 patients, while the control group showed 22/58 (P < 0.05). The homozygous genotype Met/Met occurred significantly more frequently in the scoliosis group. The increased incidence of COMT defects in the current scoliosis patient group warrants further study into how COMT variations may relate to the development or progression of idiopathic scoliosis.
Genética comunitária e hemofilia em uma popula??o brasileira
Caio, Vania Maria;Silva, Roberto Benedito de Paiva e;Magna, Luís Alberto;Ramalho, Antonio Sérgio;
Cadernos de Saúde Pública , 2001, DOI: 10.1590/S0102-311X2001000300014
Abstract: hemophilia is an important hemorrhagic disease in brazil, affecting about 1 out of every 10,000 males. patient's self-perception of hemophilia and interaction with the community are relevant to the clinical management of this disease. we investigated several social, psychological, and community aspects of hemophilia in a brazilian population (campinas, s?o paulo state), interviewing 30 hemophiliac males, a control sample comprised of 73 non-hemophiliac brothers, and 641 individuals from the community. according to our results, more severe social disability in the hemophiliac patient was related to economic factors, mainly unemployment; however, no difference was found in relation to marital status, reproduction, or education. self-perception of changes in health and lifestyle by individuals with hemophilia showed frequent self-stigmatization, along with depression, anxiety, and insecurity. the community showed a widespread lack of familiarity with hemophilia (49%), viewing people with hemophilia with the kinds of prejudices often observed in relation to people with infectious diseases, like aids. the paper concludes by recommending that a community-based program be implemented to improve the social adjustment status of individuals with hemophilia.
Uso de tríos caso-padres en estudios epidemiológicos de asociación entre polimorfismos genéticos y enfermedades complejas
Santos,José Luis; Pérez,Francisco; Carrasco,Elena; Albala,Cecilia;
Revista médica de Chile , 2002, DOI: 10.4067/S0034-98872002001100016
Abstract: in case-control studies, spurious associations between allelic variants in candidate genes and disease may arise as a result of population stratification by ethnicity. in epidemiological terms, the ethnic group would act as a confounding factor if both the genotype frequency and the incidence/prevalence of a given chronic disease vary across ethnic groups. population stratification is a key element in the study of population dynamics and the knowledge of the disparity in health-related conditions among strata has important social and public health implications. however, it would not be scientifically correct to conclude a causal gene-disease association in situations in which the association arises as a consequence of a particular population structure. although the relevance and magnitude of the bias derived from this confounding, effect would be different depending on the population considered, there has been an increased use of study designs such as the case-parent study, that avoids the effect of population stratification by ethnicity. in this article, we review the analysis of case-parent trios using unrelated affected cases as an epidemiological study design for testing association between genetic polymorphisms and disease (rev méd chile 2002; 130: 1307-15).
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