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Sample records for carcinus maenas genetic

  1. Development and application of microsatellites in Carcinus maenas: genetic differentiation between Northern and Central Portuguese populations.

    Directory of Open Access Journals (Sweden)

    Sónia Pascoal

    Full Text Available Carcinus maenas, the common shore crab of European coastal waters, has recently gained notoriety due to its globally invasive nature associated with drastic ecological and economic effects. The native ubiquity and worldwide importance of C. maenas has resulted in it becoming one of the best-studied estuarine crustacean species globally. Accordingly, there is significant interest in investigating the population genetic structure of this broadly distributed crab along European and invaded coastlines. Here, we developed polymerase chain reaction (PCR primers for one dinucleotide and two trinucleotide microsatellite loci, resulting from an enrichment process based on Portuguese populations. Combining these three new markers with six existing markers, we examined levels of genetic diversity and population structure of C. maenas in two coastal regions from Northern and Central Portugal. Genotypes showed that locus polymorphism ranged from 10 to 42 alleles (N = 135 and observed heterozygosity per locus ranged from 0.745 to 0.987 with expected heterozygosity ranging from 0.711 to 0.960; values typical of marine decapods. The markers revealed weak, but significant structuring among populations (global F(ST = 0.004 across a 450 km (over-water distance spatial scale. Combinations of these and existing markers will be useful for studying population genetic parameters at a range of spatial scales of C. maenas throughout its expanding species range.

  2. CHARACTERIZATION OF MICROSATELLITE LOCI IN THE EUROPEAN GREEN CRAB (CARCINUS MAENAS)

    Science.gov (United States)

    Carcinus maenas (Decapoda: Portunidae) has proven a highly successful invasive marine species whose potential economic and ecological impacts are of great concern worldwide. Here, we characterize fourteen polymorphic microsatellite loci in C. maenas and its sister species C. Ae...

  3. More than one way to invade: lessons from genetic studies of Carcinus shore crabs

    Science.gov (United States)

    The European green crab Carcinus maenas is one of the world's most widely recognized marine invaders. The success of this species has provided opportunities to explore genetic patterns associated with establishment and population expansion following independent introduction event...

  4. Crabs in Labs: The Shore Crab (Carcinus maenas) as Teaching Material.

    Science.gov (United States)

    Hogarth, P. J.

    1983-01-01

    The shore crab (Carcinus maenas) is an excellent subject for school study, both in the field and the laboratory. It is easily collected and maintained and can be used for a wide range of investigations. Some background details are given and possible areas of investigation suggested. (Author)

  5. Integrated assessment of biochemical responses in Mediterranean crab (Carcinus maenas) collected from Monastir Bay, Tunisia

    Institute of Scientific and Technical Information of China (English)

    Jamel Jebali; Sana Ben-Khedher; Jihene Ghedira; Nawel Kamel; Hamadi Boussetta

    2011-01-01

    The biochemical response of Mediteranean Crab (Carcinus maenas) collected at five stations of Monastir Bay and from Kuriat station as control was studied using a set of complementary biomarkers.The catalase,glutathione S-transferase,lactate dehydrogenase,acetycholinesterase activities; and metallothionein and malonediladehyde levels in gills were evaluated.Results revealed differences among sites in relation to each specific biomarker.Hence,a suite of biomarkers can be used to discriminate sampling sites according to types of pollution,reflecting differing conditions of anthropogenic impact.Based on Integrated Biomarker Response,the highest values and critical biochemical alteration were observed at Khniss and Ksibat in response to urban and industrial discharges and the lowest IBR value was found at reference site.The current study has shown dearly that a biomarker-based index is usefulness tool in the monitoring Tunisian coast using C.maenas as sentinel specie.Further studies in progress to investigate the seasonal variations of IBR levels and its relationship to pollutants concentrations in the sediment,gills and digestive gland of Carcinus maenas from Monastir Bay.

  6. Purification and characterization of a cadmium-induced metallothionein from the shore crab Carcinus maenas (L.)

    DEFF Research Database (Denmark)

    Pedersen, K L; Pedersen, S N; Højrup, P;

    1994-01-01

    Two metallothionein variants were purified from the midgut gland of crabs (Carcinus maenas) exposed to a high cadmium concentration (2 p.p.m.). One of the variants was purified from crabs exposed to a low cadmium concentration (0.5 p.p.m.). The purification method involved acetone precipitation...... from crabs exposed to the high cadmium concentration differed only by a single residue of methionine at the N-terminus. The single variant isolated from crabs exposed to the low cadmium concentration was the one without the N-terminal methionine, indicating that high cadmium concentrations either...

  7. The crab Carcinus maenas as a suitable experimental model in ecotoxicology.

    Science.gov (United States)

    Rodrigues, Elsa Teresa; Pardal, Miguel Ângelo

    2014-09-01

    Aquatic ecotoxicology broadly focuses on how aquatic organisms interact with pollutants in their environment in order to determine environmental hazard and potential risks to humans. Research has produced increasing evidence on the pivotal role of aquatic invertebrates in the assessment of the impact of pollutants on the environment. Its potential use to replace fish bioassays, which offers ethical advantages, has already been widely studied. Nevertheless, the selection of adequate invertebrate experimental models, appropriate experimental designs and bioassays, as well as the control of potential confounding factors in toxicity testing are of major importance to obtain scientifically valid results. Therefore, the present study reviews more than four decades of published research papers in which the Green crab Carcinus maenas was used as an experimental test organism. In general, the surveyed literature indicates that C. maenas is sensitive to a wide range of aquatic pollutants and that its biological responses are linked to exposure concentrations or doses. Current scientific knowledge regarding the biology and ecology of C. maenas and the extensive studies on toxicology found for the present review recognise the Green crab as a reliable estuarine/marine model for routine testing in ecotoxicology research and environmental quality assessment, especially in what concerns the application of the biomarker approach. Data gathered provide valuable information for the selection of adequate and trustworthy bioassays to be used in C. maenas toxicity testing. Since the final expression of high quality testing is a reliable outcome, the present review recommends gender, size and morphotype separation in C. maenas experimental designs and data evaluation. Moreover, the organisms' nutritional status should be taken into account, especially in long-term studies. Studies should also consider the crabs' resilience when facing historical and concurrent contamination. Finally

  8. Physiological responses to digestion in low salinity in the crabs Carcinus maenas and Cancer irroratus.

    Science.gov (United States)

    Penney, Chantelle M; Patton, Richard L; Whiteley, Nia M; Driedzic, William R; McGaw, Iain J

    2016-01-01

    Osmoregulation and digestion are energetically demanding, and crabs that move into low salinity environments to feed must be able to balance the demands of both processes. Achieving this balance may pose greater challenges for weak than for efficient osmoregulators. This study examined the rate of oxygen consumption (MO2) of Carcinus maenas (efficient osmoregulator) and Cancer irroratus (weak osmoregulator) as a function of feeding and hyposaline stress. The MO2 increased 2-fold in both species following feeding. The MO2 increased and remained elevated in fasted crabs during acute hyposaline exposure. When hyposaline stress occurred after feeding, C. maenas responded with an immediate summation of the MO2 associated with feeding and hyposaline stress, whereas C. irroratus reacted with a partial summation of responses in a salinity of 24‰, but were unable to sum responses in 16‰. C. irroratus exhibited longer gut transit times. This may be due to an inability to regulate osmotic water onload as efficiently as C. maenas. Mechanical digestion in crabs can account for a significant portion of SDA, and a short term interruption led to the delay in summation of metabolic demands. Although protein synthesis is reported to account for the majority of SDA, this did not appear to be the case here. Protein synthesis rates were higher in C. irroratus but neither feeding or salinity affected protein synthesis rates of either species which suggests that protein synthesis can continue in low salinity as long as substrates are available.

  9. Joint effects of salinity and the antidepressant sertraline on the estuarine decapod Carcinus maenas.

    Science.gov (United States)

    Rodrigues, Aurélie P; Santos, Lúcia H M L M; Oliva-Teles, Maria Teresa; Delerue-Matos, Cristina; Guimarães, Laura

    2014-11-01

    Concurrent exposure of estuarine organisms to man-made and natural stressors has become a common occurrence. Numerous interactions of multiple stressors causing synergistic or antagonistic effects have been described. However, limited information is available on combined effects of emerging pharmaceuticals and natural stressors. This study investigated the joint effects of the antidepressant sertraline and salinity on Carcinus maenas. To improve knowledge about interactive effects and potential vulnerability, experiments were performed with organisms from two estuaries with differing histories of exposure to environmental contamination. Biomarkers related to mode of action of sertraline were employed to assess effects of environmentally realistic concentrations of sertraline at two salinity levels. Synergism and antagonism were identified for biomarkers of cholinergic neurotransmission, energy production, anti-oxidant defences and oxidative damage. Different interactions were found for the two study sites highlighting the need to account for differences in tolerance of local ecological receptors in risk evaluations.

  10. Mechanosensory properties of the mouthpart setae of the European shore crab Carcinus maenas

    DEFF Research Database (Denmark)

    Garm, Anders Lydik

    2005-01-01

    In decapod crustaceans, the largest density and diversity of sensilla, referred to as setae, is in general found on the mouthparts, but little is known about their sensory properties and thereby their functions. Here data are presented from mechanoreceptors from the two largest mouthparts......, maxilliped 2 and 3, of the European shore crab Carcinus maenas. The mechanoreceptors were found to respond to either displacements of the entire seta or bending of the setal shaft. The displacement-sensitive cells encode both the amplitude and the velocity of the displacement and about half were found...... supporting that the external morphology of setae is more closely connected to their non-sensory functions, e.g., mechanical manipulation of the food items. The details of the sensory properties together with the high setal density, especially on maxilliped 3, suggest that a large amount of tactile...

  11. Contaminant effects in shore crabs (Carcinus maenas) from Ria Formosa Lagoon.

    Science.gov (United States)

    Maria, V L; Santos, M A; Bebianno, M J

    2009-08-01

    Defence and damage biomarkers signals were studied in female and male shore crabs Carcinus maenas transplanted between two sites at Ria Formosa Lagoon (South of Portugal). The cross transplantation occurred during 6 days at a hypothetical reference site (Ramalhete), and a contaminated site (Olhão). DNA unwinding technique was used for DNA integrity measurement. General enzymatic antioxidant responses in gills and hepatopancreas (catalase and gills glutathione peroxidase activities increase) showed that cross transplanted crabs (female and male) are suffering from pro-oxidant challenges at the Olhão site. Gills and hepatopancreas glutathione-S-transferase were reduced in both gender crabs transplanted from Ramalhete to Olhão. Metallothioneins induction occurred in crabs transplanted from Ramalhete to Olhão (contaminated by metals and polycyclic aromatic hydrocarbons (PAHs)). However metallothionein differences were also observed towards gender and organ specificities. High gills lipid peroxidation exist in male crabs transplanted from Ramalhete to Olhão, while in females it was the opposite. In both gender crabs from the Olhão site, gills DNA integrity decreased compared to the Ramalhete feral crabs. Moreover, hepatopancreas DNA integrity decreased in male crabs transplanted from Olhão to Ramalhete site which may be related to the environmental conditions (lower contamination levels) revealing the difficulty of selection of reference sites in field studies. Data demonstrated that female and male C. maenas antioxidant defences and damage biomarkers were sensitive to the mixture of contaminants present in these sites as well as good indicators of general stress.

  12. A novel bacterial disease of the European shore crab, Carcinus maenas molecular pathology and epidemiology.

    Science.gov (United States)

    Eddy, Fiona; Powell, Adam; Gregory, Simon; Nunan, Linda M; Lightner, Donald V; Dyson, Paul J; Rowley, Andrew F; Shields, Robin J

    2007-09-01

    Several rickettsia-like diseases have been reported in arthropods (insects and crustaceans), some of which result in significant losses of economically important species such as shrimp and crabs. This study reports on the molecular pathology of a recently emerged disease of the European shore crab, Carcinus maenas, termed milky disease - named as a result of the unusual milky appearance of the haemolymph (blood). This disease was more prevalent (>26 %) during summer months when the water temperature in a pilot crab farm was approximately 19 degrees C. The putative causative agent of the disease was a Gram-negative bacterium that could not be cultured on a range of agar-based growth media. Diseased crabs showed significant reductions in free blood cell numbers and total serum protein. Such animals also displayed raised levels of glucose and ammonium in blood. Ultrastructural and in situ hybridization studies revealed that the causative agent associated with milky disease multiplied in the fixed phagocytes of the hepatopancreas (digestive gland), ultimately to be released into the haemolymph, where the circulating blood cells showed little response to the presence of these agents. Attempts to induce the infection by short-term temperature stress failed, as did transmission experiments where healthy crabs were fed infected tissues from milky disease affected individuals. Sequence analysis of the 16S rRNA gene from the milky disease bacteria indicated that they are a previously undescribed species of alpha-proteobacteria with little phylogenetic similarity to members of the order Rickettsiales.

  13. Camouflage and individual variation in shore crabs (Carcinus maenas) from different habitats.

    Science.gov (United States)

    Stevens, Martin; Lown, Alice E; Wood, Louisa E

    2014-01-01

    Camouflage is widespread throughout the natural world and conceals animals from predators in a vast range of habitats. Because successful camouflage usually involves matching aspects of the background environment, species and populations should evolve appearances tuned to their local habitat, termed phenotype-environment associations. However, although this has been studied in various species, little work has objectively quantified the appearances of camouflaged animals from different habitats, or related this to factors such as ontogeny and individual variation. Here, we tested for phenotype-environment associations in the common shore crab (Carcinus maenas), a species highly variable in appearance and found in a wide range of habitats. We used field surveys and digital image analysis of the colors and patterns of crabs found in four locations around Cornwall in the UK to quantify how individuals vary with habitat (predominantly rockpool, mussel bed, and mudflat). We find that individuals from sites comprising different backgrounds show substantial differences in several aspects of color and pattern, and that this is also dependent on life stage (adult or juvenile). Furthermore, the level of individual variation is dependent on site and life stage, with juvenile crabs often more variable than adults, and individuals from more homogenous habitats less diverse. Ours is the most comprehensive study to date exploring phenotype-environment associations for camouflage and individual variation in a species, and we discuss the implications of our results in terms of the mechanisms and selection pressures that may drive this.

  14. N-acetyl-β-D-glucosaminidase activity in feral Carcinus maenas exposed to cadmium

    Energy Technology Data Exchange (ETDEWEB)

    Mesquita, Sofia Raquel, E-mail: smesquita@ciimar.up.pt [Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, P 4050-123 Porto (Portugal); ICBAS – Institute of Biomedical Sciences Abel Salazar, University of Porto, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto (Portugal); Ergen, Şeyda Fikirdeşici [Faculty of Science, Ankara University, Department of Biology, 06100 Tandogan, Ankara (Turkey); Rodrigues, Aurélie Pinto [Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, P 4050-123 Porto (Portugal); ICBAS – Institute of Biomedical Sciences Abel Salazar, University of Porto, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto (Portugal); Oliva-Teles, M. Teresa; Delerue-Matos, Cristina [REQUIMTE, School of Engineering, Polytechnic Institute of Porto, Rua Dr. António Bernardino de Almeida 431, 4200-072 Porto (Portugal); Guimarães, Laura, E-mail: lguimaraes@ciimar.up.pt [Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, P 4050-123 Porto (Portugal)

    2015-02-15

    Highlights: • Effects of Cd on NAGase activity of crabs from low impacted and polluted sites. • Inhibition of epidermal NAGase by Cd in crabs from both sites. • Inhibition of NAGase in digestive gland only in crabs from low impacted site. • Glutathione role in enhanced tolerance to Cd of crabs from polluted site. - Abstract: Cadmium is a priority hazardous substance, persistent in the aquatic environment, with the capacity to interfere with crustacean moulting. Moulting is a vital process dictating crustacean growth, reproduction and metamorphosis. However, for many organisms, moult disruption is difficult to evaluate in the short term, what limits its inclusion in monitoring programmes. N-acetyl-β-D-glucosaminidase (NAGase) is an enzyme acting in the final steps of the endocrine-regulated moulting cascade, allowing for the cast off of the old exoskeleton, with potential interest as a biomarker of moult disruption. This study investigated responses to waterborne cadmium of NAGase activity of Carcinus maenas originating from estuaries with different histories of anthropogenic contamination: a low impacted and a moderately polluted one. Crabs from both sites were individually exposed for seven days to cadmium concentrations ranging from 1.3 to 2000 μg/L. At the end of the assays, NAGase activity was assessed in the epidermis and digestive gland. Detoxification, antioxidant, energy production, and oxidative stress biomarkers implicated in cadmium metabolism and tolerance were also assessed to better understand differential NAGase responses: activity of glutathione S-transferases (GST), glutathione peroxidase (GPx) glutathione reductase (GR), levels of total glutathiones (TG), lipid peroxidation (LPO), lactate dehydrogenase (LDH), and NADP{sup +}-dependent isocitrate dehydrogenase (IDH). Animals from the moderately polluted estuary had lower NAGase activity both in the epidermis and digestive gland than in the low impacted site. NAGase activity in the

  15. Effects of substrate type on growth and mortality of blue mussels ( Mytilus edulis ) exposed to the predator Carcinus maenas

    DEFF Research Database (Denmark)

    Frandsen, Rikke; Dolmer, Per

    2002-01-01

    Structure and complexity of the substrate are important habitat characteristics for benthic epifauna. The specific growth and mortality rates and inducible defence characters on medium- sized blue mussels (Mytilus edulis L.) exposed to shore crabs (Carcinus maenas L.) were examined on three...... different substrate types in combined field and laboratory experiments. The experiments showed that complexity of the substrate increased blue mussel survival significantly, through a decrease in predation pressure. However, increased intraspecific competition for food on the complex substrate resulted...... in significantly lower growth rates of the mussels. Inducible defence characters were also influenced by substrate type. Blue mussels were more affected by predators on the structurally simple substrate, where they developed thicker shells and a larger posterior adductor muscle....

  16. Accumulation and depuration of okadaic acid esters in the European green crab ( Carcinus maenas ) during a feeding study

    DEFF Research Database (Denmark)

    Jørgensen, Kevin; Cold, Ulrik; Fischer, Knud

    2008-01-01

    Soft shell crab is a seafood delicacy in many parts of the world. In Denmark, it has been investigated whether a commercial production of soft shell European green crabs (Carcinus maenas) would be feasible. In relation to this, a feeding study was performed to examine if occurrence of DSP toxins...... in the product could be a food safety problem. The crabs were fed with mussels containing DSP toxins (2500 mu g total okadaic acid equivalents/kg) for 17 days and then fasted for 19 days. The content of total okadaic acid equivalents in the digestive organs was on average 27 times higher than the corresponding...... content in the body meat. The highest level of total okadaic acid equivalents measured was 12 mu g/kg in body meat and 503 mu g/kg in digestive organs. The results show that the content of DSP toxins in a commercial product of soft shell European green crab (without digestive organs) could be regarded...

  17. Variations in ecdysteroid levels and Cytochrome p450 expression during moult and reproduction in male shore crabs Carcinus maenas

    DEFF Research Database (Denmark)

    Styrishave, Bjarne; Rewitz, Kim; Lund, Torben;

    2004-01-01

    Ecdysteroid levels were investigated by HPLC-MS over the moult cycle and in relation to reproduction in male shore crabs Carcinus maenas. Ecdysone (E), 20-hydroxyecdysone (20E) and Ponasterone A (PoA) were quantified in the haemolymph, hepatopancreas and testis. Also, the expression of 2 recently...... and intermoult. In the testis, 20E and E were present at high levels except in Postmoult Stage A, where low levels were observed. PoA was never observed in the testis. Ecdysteroids were quantified in the red and green colour forms of late intermoult C-4 crabs. In both phenotypes, 20E was the dominating...... ecdysteroid in late intermoult. In the haemolymph, 20E levels did not vary between the 2 phenotypes, but haemolymph 20E levels were negatively related to size. Also, haemolymph 20E levels varied with season in late-intermoult crabs, with higher levels during spring and autumn than during summer. Green crabs...

  18. Acute effects of chlorpyryphos-ethyl and secondary treated effluents on acetylcholinesterase and butyrylcholinesterase activities in Carcinus maenas

    Institute of Scientific and Technical Information of China (English)

    Jihene Ghedira; Jamel Jebali; Zied Bouraoui; Mohamed Banni; Lassaad Chouba; Hamadi Boussetta

    2009-01-01

    The acute effects of commercial formulation of chlorpyrifos-ethyl (Dursban(r)) and the secondary treated industrial/urban effluent (STIUE) exposure on acetylcholinesterase (AChE) and butyrylcholinesterase (BuChE) activities in hepatopancreas and gills of Mediterranean crab Carcinus maenas were investigated. After 2 d of exposure to chlorpyriphos-ethyl, the AChE activity was inhibited in both organs at concentrations of 3.12 and 7.82 μg/L, whereas the BuChE was inhibited only at higher concentration 7.82 μg/L of commercial preparation Dursban(r). The exposure of crabs to Dursban(r) (3.12 μg/L) showed a significant decrement of AChE activity at 24 and 48 h, whereas the BuChE was inhibited only after 24 h and no inhibition for both enzymes was observed after 72 h. Moreover, a significant repression of AChE activity was observed in both organs of C. maenas exposed to 5% of STIUE. Our experiments indicated that the measurement of AChE activity in gills and hepatopancreas of C. meanas would be useful biomarker of organophosphorous (OP) and of neurotoxic effects of STIUE in Tunisia.

  19. Expression and distribution of neuropeptides in the nervous system of the crab Carcinus maenas and their roles in environmental stress.

    Science.gov (United States)

    Zhang, Yuzhuo; Buchberger, Amanda; Muthuvel, Gajanthan; Li, Lingjun

    2015-12-01

    Environmental fluctuations, such as salinity, impose serious challenges to marine animal survival. Neuropeptides, signaling molecules involved in the regulation process, and the dynamic changes of their full complement in the stress response have yet to be investigated. Here, a MALDI-MS-based stable isotope labeling quantitation strategy was used to investigate the relationship between neuropeptide expression and adaptability of Carcinus maenas to various salinity levels, including high (60 parts per thousand [p.p.t.]) and low (0 p.p.t.) salinity, in both the crustacean pericardial organ (PO) and brain. Moreover, a high salinity stress time course study was conducted. MS imaging (MSI) of neuropeptide localization in C. maenas PO was also performed. As a result of salinity stress, multiple neuropeptide families exhibited changes in their relative abundances, including RFamides (e.g. APQGNFLRFamide), RYamides (e.g. SSFRVGGSRYamide), B-type allatostatins (AST-B; e.g. VPNDWAHFRGSWamide), and orcokinins (e.g. NFDEIDRSSFGFV). The MSI data revealed distribution differences in several neuropeptides (e.g. SGFYANRYamide) between color morphs, but salinity stress appeared to not have a major effect on the localization of the neuropeptides.

  20. Host-parasite interactions in the European shore crab Carcinus maenas and their implications for the invasion success of this introduced species

    OpenAIRE

    Zetlmeisl, Claudia

    2011-01-01

    In the invasive crab Carcinus maenas, parasite loss during its introduction was previously suggested as a main reason for invasion success. This hypothesis was examined by analysing parasite impacts on individual fitness. However, I found little support for it. Apart from the effect of parasitic castrators the crabs were mostly unaffected by the more common helminth parasites. A major regulatory role of parasites in the home range or parasite release during the invasion a...

  1. Low salinity enhances NI-mediated oxidative stress and sub-lethal toxicity to the green shore crab (Carcinus maenas).

    Science.gov (United States)

    Blewett, Tamzin A; Wood, Chris M

    2015-12-01

    Nickel (Ni) is a metal of environmental concern, known to cause toxicity to freshwater organisms by impairing ionoregulation and/or respiratory gas exchange, and by inducing oxidative stress. However, little is known regarding how nickel toxicity is influenced by salinity. In the current study we investigated the salinity-dependence and mechanisms of sub-lethal Ni toxicity in a euryhaline crab (Carcinus maenas). Crabs were acclimated to three experimental salinities--20, 60 and 100% seawater (SW)--and exposed to 3mg/L Ni for 24h or 96 h. Tissues were dissected for analysis of Ni accumulation, gills were taken for oxidative stress analysis (catalase activity and protein carbonyl content), haemolymph ions were analysed for ionoregulatory disturbance, and oxygen consumption was determined in exercised crabs after 96 h of Ni exposure. Total Ni accumulation was strongly dependant on salinity, with crabs from 20% SW displaying the highest tissue Ni burdens after both 24 and 96-h exposures. After 96 h of exposure, the highest accumulation of Ni occurred in the posterior (ionoregulatory) gills at the lowest salinity, 20% SW. Posterior gill 8 exhibited elevated protein carbonyl levels and decreased catalase activity after Ni exposure, but only in 20% SW. Similarly, decreased levels of haemolymph Mg and K and an increased level of Ca were recorded but only in crabs exposed to Ni for 96 h in 20% SW. Oxygen consumption after exercise was also inhibited in crabs exposed to Ni in 20% SW. These data show for the first time the simultaneous presence of all three modes of sub-lethal Ni toxicity in exposed animals, and indicate a strong salinity dependence of sub-lethal Ni toxicity to the euryhaline crab, C. maenas, a pattern that corresponded to tissue Ni accumulation.

  2. On the morphology of the central nervous system in larval stages of Carcinus maenas L. (Decapoda, Brachyura)

    Science.gov (United States)

    Harzsch, S.; Dawirs, R. R.

    1993-02-01

    We investigated the morphology of the central nervous system throughout the larval development of Carcinus maenas. For that purpose single larvae were reared in the laboratory from hatching through metamorphosis. Complete series of whole mout semithin sections were obtained from individuals of all successive larval stages and analysed with a light microscope. Morphological feature and spatial arrangement of discernable neural cell clusters, fibre tracts and neuropile are described and compared with the adult pattern. We found that most of the morphological features characterizing the adult nervous system are already present in the zoea-1. Nevertheless, there are marked differences with respect to the arrangement of nerve cell bodies, organization of cerebral neuropile, and disposition of ganglia in the ventral nerve cord. It appears that complexity of the central nervous neuropile is selectively altered during postmetamorphotic development, probably reflecting adaptive changes of sensory-motor integration in response to behavioural maturation. In contrast, during larval development there was little change in the overall structural organization of the central nervous system despite some considerable growth. However, the transition from zoea-4 to megalopa brings about multiple fundamental changes in larval morphology and behavioural pattern. Since central nervous integration should properly adapt to the altered behavioural repertoire of the megalopa, it seems necessary to ask in which respect synaptic rearrangement might characterize development of the central nervous system.

  3. Environmental monitoring of Domingo Rubio stream (Huelva Estuary, SW Spain) by combining conventional biomarkers and proteomic analysis in Carcinus maenas

    Energy Technology Data Exchange (ETDEWEB)

    Montes Nieto, Rafael [Department of Biochemistry and Molecular Biology, University of Cordoba, Severo Ochoa Building, Rabanales Campus, Highway A4 Km 396a, 14071 Cordoba (Spain); Garcia-Barrera, Tamara; Gomez-Ariza, Jose-Luis [Department of Chemistry and Materials Sciences, University of Huelva, Faculty of Experimental Sciences, El Carmen Campus, 21007 Huelva (Spain); Lopez-Barea, Juan, E-mail: bb1lobaj@uco.e [Department of Biochemistry and Molecular Biology, University of Cordoba, Severo Ochoa Building, Rabanales Campus, Highway A4 Km 396a, 14071 Cordoba (Spain)

    2010-02-15

    Element load, conventional biomarkers and altered protein expression profiles were studied in Carcinus maenas crabs, to assess contamination of 'Domingo Rubio' stream, an aquatic ecosystem that receives pyritic metals, industrial contaminants, and pesticides. Lower antioxidative activities - glucose-6-phosphate and 6-phosphogluconate dehydrogenases, catalase - were found in parallel to higher levels of damaged biomolecules - malondialdehyde, oxidized glutathione -, due to oxidative lesions promoted by contaminants, as the increased levels of essential - Zn, Cu, Co - and nonessential - Cr, Ni, Cd - elements. Utility of Proteomics to assess environmental quality was confirmed, especially after considering the six proteins identified by de novo sequencing through capLC-muESI-ITMS/MS and homology search on databases. They include tripartite motif-containing protein 11 and ATF7 transcription factor (upregulated), plus CBR-NHR-218 nuclear hormone receptor, two components of the ABC transporters and aldehyde dehydrogenase (downregulated). These proteins could be used as novel potential biomarkers of the deleterious effects of pollutants present in the area. - Pollution assessment at 'Domingo Rubio' stream (Spain).

  4. Sertraline accumulation and effects in the estuarine decapod Carcinus maenas: importance of the history of exposure to chemical stress.

    Science.gov (United States)

    Rodrigues, Aurélie P; Santos, Lúcia H M L M; Ramalhosa, Maria João; Delerue-Matos, Cristina; Guimarães, Laura

    2015-01-01

    Sertraline is widely prescribed worldwide and frequently detected in aquatic systems. There is, however, a remarkable gap of information on its potential impact on estuarine and coastal invertebrates. This study investigated sertraline accumulation and effects in Carcinus maenas. Crabs from a moderately contaminated (Lima) and a low-impacted (Minho) estuary were exposed to environmental and high levels of sertraline (0.05, 5, 500 μg L(-1)). A battery of biomarkers related to sertraline mode of action was employed to assess neurotransmission, energy metabolism, biotransformation and oxidative stress pathways. After a seven-day exposure, sertraline accumulation in crabs' soft tissues was found in Lima (5 μg L(-1): 15.3 ng L(-1) ww; 500 μg L(-1): 1010 ng L(-1) ww) and Minho (500 μg L(-1): 605 ng L(-1) ww) animals. Lima crabs were also more sensitive to sertraline than those from Minho, exhibiting decreased acetylcholinesterase activity, indicative of ventilatory and locomotory dysfunction, inhibition of anti-oxidant enzymes and increased oxidative damage at ≥ 0.05 μg L(-1). The Integrated Biomarker Response (IBR) index indicated their low health status. In addition, Minho crabs showed non-monotonic responses of acetylcholinesterase suggestive of hormesis. The results pointed an influence of the exposure history on differential sensitivity to sertraline and the need to perform evaluations with site-specific ecological receptors to increase relevance of risk estimations when extrapolating from laboratory to field conditions.

  5. An in situ postexposure feeding assay with Carcinus maenas for estuarine sediment-overlying water toxicity evaluations

    Energy Technology Data Exchange (ETDEWEB)

    Moreira, Susana M. [Instituto de Ciencias Biomedicas de Abel Salazar (ICBAS), Departamento de Estudos de Populacoes, Largo Abel Salazar 2, 4099-003 Porto (Portugal); Centro Interdisciplinar de Investigacao Marinha e Ambiental, Laboratorio de Ecotoxicologia, Rua dos Bragas 289, 4050-123 Porto (Portugal); Moreira-Santos, Matilde [Instituto do Ambiente e Vida, Departamento de Zoologia da Universidade de Coimbra, Largo Marques de Pombal, 3004-517 Coimbra (Portugal); Guilhermino, Lucia [Instituto de Ciencias Biomedicas de Abel Salazar (ICBAS), Departamento de Estudos de Populacoes, Largo Abel Salazar 2, 4099-003 Porto (Portugal); Centro Interdisciplinar de Investigacao Marinha e Ambiental, Laboratorio de Ecotoxicologia, Rua dos Bragas 289, 4050-123 Porto (Portugal); Ribeiro, Rui [Instituto do Ambiente e Vida, Departamento de Zoologia da Universidade de Coimbra, Largo Marques de Pombal, 3004-517 Coimbra (Portugal)]. E-mail: rui.ribeiro@zoo.uc.pt

    2006-01-15

    This study developed and evaluated a short-term sublethal in situ toxicity assay for estuarine sediment-overlying waters, with the crab Carcinus maenas (L.) based on postexposure feeding. It consisted of a 48-h in situ exposure period followed by a short postexposure feeding period (30 min). A precise method for quantifying feeding, using the Polychaeta Hediste (Nereis) diversicolor Mueller as food source, was first developed. The sensitivity of the postexposure feeding response was verified by comparing it to that of lethality, upon cadmium exposure. The influence of environmental conditions prevailing during exposure (salinity, temperature, substrate, light regime, and food availability) on postexposure feeding was also addressed. The potential of this in situ assay was then investigated by deploying organisms at ten sites, located in reference and contaminated Portuguese estuaries. Organism recovery ranged between 90% and 100% and a significant postexposure feeding depression (16.3-72.7%) was observed at all contaminated sites relatively to references. - A new sub-lethal toxicity assay is presented for marine invertebrates.

  6. Unravelling polar lipids dynamics during embryonic development of two sympatric brachyuran crabs (Carcinus maenas and Necora puber) using lipidomics.

    Science.gov (United States)

    Rey, Felisa; Alves, Eliana; Melo, Tânia; Domingues, Pedro; Queiroga, Henrique; Rosa, Rui; Domingues, M Rosário M; Calado, Ricardo

    2015-09-30

    Embryogenesis is an important stage of marine invertebrates with bi-phasic life cycles, as it conditions their larval and adult life. Throughout embryogenesis, phospholipids (PL) play a key role as an energy source, as well as constituents of biological membranes. However, the dynamics of PL during embryogenesis in marine invertebrates is still poorly studied. The present work used a lipidomic approach to determine how polar lipid profiles shift during embryogenesis in two sympatric estuarine crabs, Carcinus maenas and Necora puber. The combination of thin layer chromatography, liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry allowed us to achieve an unprecedented resolution on PL classes and molecular species present on newly extruded embryos (stage 1) and those near hatching (stage 3). Embryogenesis proved to be a dynamic process, with four PL classes being recorded in stage 1 embryos (68 molecular species in total) and seven PL classes at stage 3 embryos (98 molecular species in total). The low interspecific difference recorded in the lipidomic profiles of stage 1 embryos appears to indicate the existence of similar maternal investment. The same pattern was recorded for stage 3 embryos revealing a similar catabolism of embryonic resources during incubation for both crab species.

  7. Comparison of protein-extraction methods for gills of the shore crab, Carcinus maenas (L.), and application to 2DE.

    Science.gov (United States)

    Panchout, François; Letendre, Julie; Bultelle, Florence; Denier, Xavier; Rocher, Béatrice; Chan, Philippe; Vaudry, David; Durand, Fabrice

    2013-12-01

    As it is well-established that protein extraction constitutes a crucial step for two-dimensional electrophoresis (2DE), this work was done as a prerequisite to further the study of alterations in the proteome in gills of the shore crab Carcinus maenas under contrasted environmental conditions. Because of the presence of a chitin layer, shore crab gills have an unusual structure. Consequently, they are considered as a hard tissue and represent a challenge for optimal protein extraction. In this study, we compared three published extraction procedures for subsequent applications to 2DE: the first one uses homogenization process, the second one included an additional TCA-acetone precipitation step, and finally, the third one associated grinding in liquid nitrogen (N2) and TCA-acetone precipitation. Extracted proteins were then resolved using 1DE and 2DE. Although interesting patterns were obtained using 1DE with the three methods, only the one involving grinding in liquid N2 and TCA-acetone precipitation led to proper resolution after 2DE, showing a good level of reproducibility at technical (85%) and biological (84%) levels. This last method is therefore proposed for analysis of gill proteomes in the shore crab.

  8. Female sex pheromone-mediated effects on behavior and consequences of male competition in the shore crab (Carcinus maenas).

    Science.gov (United States)

    Sneddon, Lynne U; Huntingford, Felicity A; Taylor, Alan C; Clare, Anthony S

    2003-01-01

    Exposure to receptive female pheromone elicits guarding behavior in shore crab males (Carcinus maenas), but little is known about the effects of sex pheromone on male competition or if the female plays an active role in mate choice. This study examined whether female pheromone enhanced agonistic behavior between males and what effects visual and chemical cues had on the rules and costs of such contests. We also investigated whether females exhibit a preference for males in terms of size. Under laboratory conditions, solitary male shore crabs engaged males who already had possession of a female. The visual and chemical presence of a receptive female had an impact on contest rules and costs. Fights were costly in terms of duration and of sustaining injury with either one or both crabs incurring injury in 40% of fights. To investigate the metabolic consequences of fighting over a perceived sexual resource (chemical cue only), fights were staged between pairs of size-matched males in the presence of water containing the female sex pheromone, water in which males had been kept, and untreated seawater. The duration and intensity of contests were greater when staged in the presence of the female pheromone compared with the two other treatments. Crabs that fought in the presence of female sex pheromone also had a greater accumulation of L-lactate and a reduction of glycogen stores. Fights were less costly in terms of injury with a single chemical cue compared with enhanced costs with a multiple sexual cue. The importance of female choice was determined by presenting postmolt females with different sized males. Males were kept in a fixed position, and the majority of females approached and performed courtship behavior to the largest males, demonstrating that females may be selective in terms of size.

  9. Amount and metal composition of midgut gland metallothionein in shore crabs (Carcinus maenas) after exposure to cadmium in the food

    Energy Technology Data Exchange (ETDEWEB)

    Pedersen, Knud Ladegaard; Bach, Louise Thornhøj; Bjerregaard, Poul, E-mail: poul@biology.sdu.dk

    2014-05-01

    Highlights: • Crabs were fed with Cd in concentrations of 1.1–5.1 μg g⁻¹ food. • Metallothionein concentrations only increased at 5.1 μg g⁻¹. • Cd contents of metallothionein increased linearly with exposure. • A marked influence by the variable Cu contents on metal composition was recorded. • Digestive gland metallothionein is a poor biomarker for Cd exposure. - Abstract: Accumulation of cadmium in aquatic invertebrates may compromise human food safety and anthropogenic additions of cadmium to coastal areas cause concern. Induction of crustacean metallothionein has been suggested as a useful biomarker for contamination of the aquatic environment with cadmium. We investigated how exposure to low concentrations of cadmium in the food affects the subcellular binding of cadmium with the shore crab Carcinus maenas as model organism. Approximately 80% of the assimilated cadmium was bound in the soluble fraction of the midgut gland and of this, 82% was found in the metallothionein fraction. Metallothionein synthesis was only induced at the highest exposure level. However, the number of cadmium atoms bound per molecule of metallothionein increased linearly with exposure, from approximately 0.18 in the control group to 1.4 in a group administered food containing 5.1 μg Cd g⁻¹. We noted a marked interaction between the presence of copper and zinc in the midgut gland and the binding of cadmium. The usefulness of crustacean midgut gland metallothionein as a biomarker for cadmium exposure at modest levels was questioned since exposures at levels producing significant increases in the tissue contents of the metal did not result in elevated concentrations of metallothionein in the midgut gland.

  10. Comparative brain architecture of the European shore crab Carcinus maenas (Brachyura) and the common hermit crab Pagurus bernhardus (Anomura) with notes on other marine hermit crabs.

    Science.gov (United States)

    Krieger, Jakob; Sombke, Andy; Seefluth, Florian; Kenning, Matthes; Hansson, Bill S; Harzsch, Steffen

    2012-04-01

    The European shore crab Carcinus maenas and the common hermit crab Pagurus bernhardus are members of the sister taxa Brachyura and Anomura (together forming the taxon Meiura) respectively. Both species share similar coastal marine habitats and thus are confronted with similar environmental conditions. This study sets out to explore variations of general brain architecture of species that live in seemingly similar habitats but belong to different major malacostracan taxa and to understand possible differences of sensory systems and related brain compartments. We examined the brains of Carcinus maenas, Pagurus bernhardus, and three other hermit crab species with immunohistochemistry against tyrosinated tubulin, f-actin, synaptic proteins, RF-amides and allatostatin. Our comparison showed that their optic neuropils within the eyestalks display strong resemblance in gross morphology as well as in detailed organization, suggesting a rather similar potential of processing visual input. Besides the well-developed visual system, the olfactory neuropils are distinct components in the brain of both C. maenas and P. bernhardus as well as the other hermit crabs, suggesting that close integration of olfactory and visual information may be useful in turbid marine environments with low visibility, as is typical for many habitats such as, e.g., the Baltic and the North Sea. Comparing the shape of the olfactory glomeruli in the anomurans showed some variations, ranging from a wedge shape to an elongate morphology. Furthermore, the tritocerebrum and the organization of the second antennae associated with the tritocerebrum seem to differ markedly in C. maenas and P. bernhardus, indicating better mechanosensory abilities in the latter close to those of other Decapoda with long second antennae, such as Astacida, Homarida, or Achelata. This aspect may also represent an adaptation to the "hermit lifestyle" in which competition for shells is a major aspect of their life history. The shore

  11. Interspecific hybridization and mitochondrial introgression in invasive carcinus shore crabs.

    Directory of Open Access Journals (Sweden)

    John A Darling

    Full Text Available Interspecific hybridization plays an important role in facilitating adaptive evolutionary change. More specifically, recent studies have demonstrated that hybridization may dramatically influence the establishment, spread, and impact of invasive populations. In Japan, previous genetic evidence for the presence of two non-native congeners, the European green crab Carcinus maenas and the Mediterranean green crab C. aestuarii, has raised questions regarding the possibility of hybridization between these sister species. Here I present analysis based on both nuclear microsatellites and the mitochondrial cytochrome C oxidase subunit I (COI gene which unambiguously argues for a hybrid origin of Japanese Carcinus. Despite the presence of mitochondrial lineages derived from both C. maenas and C. aestuarii, the Japanese population is panmictic at nuclear loci and has achieved cytonuclear equilibrium throughout the sampled range in Japan. Furthermore, analysis of admixture at nuclear loci indicates dramatic introgression of the C. maenas mitochondrial genome into a predominantly C. aestuarii nuclear background. These patterns, along with inferences drawn from the observational record, argue for a hybridization event pre-dating the arrival of Carcinus in Japan. The clarification of both invasion history and evolutionary history afforded by genetic analysis provides information that may be critically important to future studies aimed at assessing risks posed by invasive Carcinus populations to Japan and the surrounding region.

  12. Effects of elevated seawater pCO2 on gene expression patterns in the gills of the green crab, Carcinus maenas

    Directory of Open Access Journals (Sweden)

    Towle David W

    2011-10-01

    Full Text Available Abstract Background The green crab Carcinus maenas is known for its high acclimation potential to varying environmental abiotic conditions. A high ability for ion and acid-base regulation is mainly based on an efficient regulation apparatus located in gill epithelia. However, at present it is neither known which ion transport proteins play a key role in the acid-base compensation response nor how gill epithelia respond to elevated seawater pCO2 as predicted for the future. In order to promote our understanding of the responses of green crab acid-base regulatory epithelia to high pCO2, Baltic Sea green crabs were exposed to a pCO2 of 400 Pa. Gills were screened for differentially expressed gene transcripts using a 4,462-feature microarray and quantitative real-time PCR. Results Crabs responded mainly through fine scale adjustment of gene expression to elevated pCO2. However, 2% of all investigated transcripts were significantly regulated 1.3 to 2.2-fold upon one-week exposure to CO2 stress. Most of the genes known to code for proteins involved in osmo- and acid-base regulation, as well as cellular stress response, were were not impacted by elevated pCO2. However, after one week of exposure, significant changes were detected in a calcium-activated chloride channel, a hyperpolarization activated nucleotide-gated potassium channel, a tetraspanin, and an integrin. Furthermore, a putative syntaxin-binding protein, a protein of the transmembrane 9 superfamily, and a Cl-/HCO3- exchanger of the SLC 4 family were differentially regulated. These genes were also affected in a previously published hypoosmotic acclimation response study. Conclusions The moderate, but specific response of C. maenas gill gene expression indicates that (1 seawater acidification does not act as a strong stressor on the cellular level in gill epithelia; (2 the response to hypercapnia is to some degree comparable to a hypoosmotic acclimation response; (3 the specialization of each

  13. Neuroendocrine disruption in the shore crab Carcinus maenas: Effects of serotonin and fluoxetine on chh- and mih-gene expression, glycaemia and ecdysteroid levels.

    Science.gov (United States)

    Robert, Alexandrine; Monsinjon, Tiphaine; Delbecque, Jean-Paul; Olivier, Stéphanie; Poret, Agnès; Foll, Frank Le; Durand, Fabrice; Knigge, Thomas

    2016-06-01

    Serotonin, a highly conserved neurotransmitter, controls many biological functions in vertebrates, but also in invertebrates. Selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine, are commonly used in human medication to ease depression by affecting serotonin levels. Their residues and metabolites can be detected in the aquatic environment and its biota. They may also alter serotonin levels in aquatic invertebrates, thereby perturbing physiological functions. To investigate whether such perturbations can indeed be expected, shore crabs (Carcinus maenas) were injected either with serotonin, fluoxetine or a combination of both. Dose-dependent effects of fluoxetine ranging from 250 to 750nM were investigated. Gene expression of crustacean hyperglycemic hormone (chh) as well as moult inhibiting hormone (mih) was assessed by RT-qPCR at 2h and 12h after injection. Glucose and ecdysteroid levels in the haemolymph were monitored in regular intervals until 12h. Serotonin led to a rapid increase of chh and mih expression. On the contrary, fluoxetine only affected chh and mih expression after several hours, but kept expression levels significantly elevated. Correspondingly, serotonin rapidly increased glycaemia, which returned to normal or below normal levels after 12h. Fluoxetine, however, resulted in a persistent low-level increase of glycaemia, notably during the period when negative feedback regulation reduced glycaemia in the serotonin treated animals. Ecdysteroid levels were significantly decreased by serotonin and fluoxetine, with the latter showing less pronounced and less rapid, but longer lasting effects. Impacts of fluoxetine on glycaemia and ecdysteroids were mostly observed at higher doses (500 and 750nM) and affected principally the response dynamics, but not the amplitude of glycaemia and ecdysteroid-levels. These results suggest that psychoactive drugs are able to disrupt neuroendocrine control in decapod crustaceans, as they interfere with the

  14. Identification and developmental expression of mRNAs encoding putative insect cuticle hardening hormone, bursicon in the green shore crab Carcinus maenas.

    Science.gov (United States)

    Wilcockson, David C; Webster, Simon G

    2008-03-01

    Bursicon is the ultimate hormone in insect ecdysis, which is involved in cuticle hardening. Here we show that mRNAs encoding the heterodimeric cystine knot protein bursicon (Burs alpha, beta), are present in crustaceans, suggesting ubiquity of this hormone in arthropods. We firstly report the cloning, sequencing of mRNAs encoding subunits from the water flea, Daphnia arenata and the CNS of the crab, Carcinus maenas, in comparison with insect bursicon subunits. Expression patterns of alpha and beta burs mRNAs were examined by in-situ hybridisation (ISH) and quantitative RT-PCR. In the thoracic ganglion, burs alpha and beta mRNAs were completely colocalised in neurones expressing crustacean cardioactive peptide (CCAP). However, in the brain and eyestalk, bursicon transcripts were never observed, despite a complex expression pattern of CCAP interneurones. Patterns of expression of burs alpha and beta mRNAs were constitutive during the moult cycle of adult crabs, in stark contrast to the situation in insects. Whilst copy numbers of burs beta transcripts closely matched those of CCAP, those of burs alpha mRNA were around 3-fold higher than burs beta. This pattern was apparent during embryogenesis, where bursicon transcripts were first observed at around 50% development-the same time as first expression of CCAP mRNA. Transcript ratios (burs alpha: beta) increased during development. Our studies have shown, for the first time, that bursicon mRNAs are expressed in identified neurones in the nervous system of crustaceans. These findings will now promote further investigation into the functions of bursicon during the moult cycle and development of crustaceans.

  15. Laboratory simulation system, using Carcinus maenas as the model organism, for assessing the impact of CO2 leakage from sub-seabed injection and storage.

    Science.gov (United States)

    Rodríguez-Romero, Araceli; Jiménez-Tenorio, Natalia; Riba, Inmaculada; Blasco, Julián

    2016-01-01

    The capture and storage of CO2 in sub-seabed geological formations has been proposed as one of the potential options to decrease atmospheric CO2 concentrations in order to mitigate the abrupt and irreversible consequences of climate change. However, it is possible that CO2 leakages could occur during the injection and sequestration procedure, with significant repercussions for the marine environment. We investigate the effects of acidification derived from possible CO2 leakage events on the European green crab, Carcinus maenas. To this end, a lab-scale experiment involving direct release of CO2 was conducted at pH values between 7.7 and 6.15. Female crabs were exposed for 10 days to sediment collected from two different coastal areas, one with relatively uncontaminated sediment (RSP) and the other with known contaminated sediment (MZ and ML), under the pre-established seawater pH conditions. Survival rate, histopathological damage and metal (Fe, Mn, Cu, Zn, Cr, Cd and Pb) and As accumulation in gills and hepatopancreas tissue were employed as endpoints. In addition, the obtained results were compared with the results of the physico-chemical characterization of the sediments, which included the determination of the metals Fe, Mn, Cu, Zn, Cr, Pb and Cd, the metalloid As, certain polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs), as well as nonchemical sediment properties (grain size, organic carbon and total organic matter). Significant associations were observed between pH and the histological damage. Concentrations of Fe, Mn, Cr, Pb, Cd and PAHs in sediment, presented significant negative correlations with the damage to gills and hepatopancreas, and positive correlations with metal accumulation in both tissues. The results obtained in this study reveal the importance of sediment properties in the biological effects caused by possible CO2 leakage. However, a clear pattern was not observed between metal accumulation in tissues and p

  16. In vivo and in vitro cadmium accumulation during the moult cycle of the male shore crab Carcinus maenas-interaction with calcium metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Norum, Ulrik [Institute of Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense M (Denmark)]. E-mail: ulrik@biology.sdu.dk; Bondgaard, Morten [Institute of Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense M (Denmark); Pedersen, Thomas V. [Institute of Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense M (Denmark); Bjerregaard, Poul [Institute of Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense M (Denmark)

    2005-03-25

    The effect of moult stage on cadmium accumulation and distribution was investigated in vivo in male shore crabs Carcinus maenas exposed to 1 mg Cd l{sup -1} for 7 days. The accumulation of cadmium in all tissues examined was markedly higher in postmoult (A{sub 1-2} and B{sub 1-2}) compared to intermoult (C{sub 1}, C{sub 3} and C{sub 4}) and premoult (D{sub 0-3}). In addition, elevated levels of cadmium were found in gills of late premoult (D{sub 2-3}) animals. The total amount of cadmium accumulated in the tissues (haemolymph, gills, midgut gland and muscle) increased from 43 {mu}g Cd in early premoult (D{sub 0-1}) to 391 {mu}g Cd in late postmoult (B{sub 1-2}). Gills and midgut gland were the primary cadmium accumulating tissues in C{sub 4}-intermoult and premoult (D{sub 0-3}); in early postmoult (A{sub 1-2}) haemolymph and midgut gland were the main cadmium containing tissues, while midgut gland dominated in late postmoult (B{sub 1-2}) and early intermoult (C{sub 1} and C{sub 3}). A detailed account of calcium distribution in haemolymph, gills, midgut gland, muscle and exoskeleton during the moult cycle is presented. Mechanistic links between cadmium and calcium uptake in posterior gills of C{sub 4}-intermoult and early postmoult (A{sub 1-2}) crabs were explored using an in vitro gill perfusion technique. Calcium and cadmium influxes were markedly higher in postmoult compared to intermoult. No differences between intermoult and postmoult effluxes were found for either calcium or cadmium. From intermoult to postmoult net influx increased from 2.4 to 29 {mu}mol Ca{sup 2+} g{sup -1} ww{sub gill} h{sup -1} and from 0.24 to 25 nmol Cd{sup 2+} g{sup -1} ww{sub gill} h{sup -1}. The results indicate that the postmoult increase in cadmium influx is due to increased active transport of cadmium, at least partly, by accidental uptake via calcium transporting proteins. The in vitro net influx rates corresponded accurately to the observed in vivo accumulation of both cadmium

  17. The selective advantage of host feminization: a case study of the green crab Carcinus maenas and the parasitic barnacle Sacculina carcini

    DEFF Research Database (Denmark)

    Kristensen, Tommy; Nielsen, Anders Isberg; Stig-Jørgensen, Anders Isak

    2012-01-01

    Male crabs infected by parasitic barnacles (Rhizocephala) are known to be morphologically feminized. Here, we investigate morphological chances in green crabs, Carcinus maenas, induced by the parasitic barnacle Sacculina carcini. Infected males acquire a broader, longer and segmented abdomen......, fringed with marginal setae. Copulatory appendages and pereopods are reduced in length, and the chelae become smaller. The feminization show great individual variation. Males with scars from lost externae, the parasites reproductive organ situated under the abdomen, are less modified than males carrying...... an externa, and the feminization is more pronounced in smaller than in larger males. No super-feminization is evident in female crabs that remain morphologically unaffected by infection. The protective value of a parasitically induced enlargement of the male abdomen may constitute an adaptation...

  18. Overview on the European green crab Carcinus spp. (Portunidae, Decapoda), one of the most famous marine invaders and ecotoxicological models.

    Science.gov (United States)

    Leignel, V; Stillman, J H; Baringou, S; Thabet, R; Metais, I

    2014-01-01

    Green crabs (Carcinus, Portunidae) include two species native to Europe--Carcinus aestuarii (Mediterranean species) and Carcinus maenas (Atlantic species). These small shore crabs (maximal length carapace, approximately 10 cm) show rapid growth, high fecundity, and long planktonic larval stages that facilitate broad dispersion. Carcinus spp. have a high tolerance to fluctuations of environmental factors including oxygen, salinity, temperature, xenobiotic compounds, and others. Shipping of Carcinus spp. over the past centuries has resulted in its invasions of America, Asia, and Australia. Classified as one of the world's 100 worst invaders by the International Union for Conservation of Nature, Carcinus spp. are the most widely distributed intertidal crabs in the world. Their voracious predatory activity makes them strong interactors in local communities, and they are recognized as a model for invasiveness in marine systems as well as a sentinel species in ecotoxicology. This review shows an exhaustive analysis of the literature on the life cycle, diversity, physiological tolerance, genomic investigations, ecotoxicological use, historical invasion, control programs, and putative economical valorization of shore crabs.

  19. Foregut morphology of Macrobrachium carcinus (Crustacea, Decapoda, Palaemonidae)

    OpenAIRE

    LIMA, J.F.; GARCIA, J. da S.; Tavares, M.

    2016-01-01

    ABSTRACT Macrobrachium carcinus is a Brazilian native prawn with recognized potential for use in aquaculture activities. The aim of this study was to describe and illustrate in detail the morphology of the M. carcinus foregut. The foregut comprises the mouth, esophagus and stomach. It is lined by a simple cylindrical epithelium overlain by chitinous cuticle. The cardiac chamber is well supplied with muscles and lined with chitin thickened in places to form a complex, articulating set of ossic...

  20. On the occurrence of Carcinus maenas (Linnaeus) and its parasite Sacculina carcini Thompson in Burma, with notes on the transport of crabs to new localities

    NARCIS (Netherlands)

    Boschma, H.

    1972-01-01

    From time to time crabs have been found in localities at great distances from their normal area of distribution, owing to their being transported by ships in ballast water tanks or on the hulls. Much attention has been paid to a report by Catta (1876), who examined the Crustacea taken from the hull

  1. Etude Histopathologique et Ultrastructurale d'une Maladie Rickettsienne Chez le Crabe Carcinus mediterraneus Czerniavski (Crustace Decapode).

    OpenAIRE

    1980-01-01

    This study constitutes the first occurrence of a rickettsia-like organism causing a disease experimentally transmissible in marine crustaceans. The high pathogenous power of this microorganism is an important factor of the regulation of the populations of Carcinus mediterraneus.

  2. Natural diet and feeding habits of a freshwater prawn (Macrobrachium carcinus: Crustacea, Decapoda) in the estuary of the Amazon River.

    OpenAIRE

    LIMA, J.F.; GARCIA, J. da S.; SILVA, T. C. da

    2014-01-01

    Macrobrachium carcinus is a Brazilian native prawn with recognized potential for use in aquaculture activities. However, there is little information about the natural diet and feeding habits of this species. The aim of this study was the identification of the diet items of M. carcinus based on the analysis of the stomach contents. Specimens were collected in the Amazon River estuary between January 2009 and January 2010. The stomach analysis was carried out by using the frequency of occurrenc...

  3. Maturation and growth curves of Macrobrachium Carcinus (Linnaeus) (Crustacea, Decapoda, Palaemonidae) from Ribeira de Iguape River, southern Brazil

    OpenAIRE

    Valenti,Wagner C; Jeanette de T.C. de Mello; Vera L Lobão

    1994-01-01

    In this paper, female Macrobrachium carcinus (Linnaeus, 1758) maturation curve, weight/length relationship, length and weight growth curves were studied. Prawns were captured, by traps, in Ribeira de Iguape river (24ºS and 47ºW), southern Brazil. There were used 207 females. It was observed that M. carcinus presents several spawnings during its life cycle and reproductive period goes on, at least till six years old. Weight/length relationship can be represented for the equation W = 8.73 E-3 L...

  4. Utilização de diferentes dietas na larvicultura do camarão pitu, Macrobrachium carcinus (Linnaeus, 1758).

    OpenAIRE

    Edson Pereira dos Santos

    2006-01-01

    A produção do camarão pitu Macrobrachium carcinus tem sido explorada comercialmente em diversos países. No Nordeste, a pesca do pitu é de grande importância no Baixo São Francisco. A produção em larga escala de pós-larvas do pitu continua sendo o principal empecilho para o cultivo comercial e recuperação dos estoques naturais. Desta forma, objetivou-se com o presente trabalho testar diferentes dietas na larvicultura de M. carcinus, visando melhorar o desempenho da produção de pós-larvas, com ...

  5. Comportamiento reproductivo y fertilidad de Macrobrachium carcinus (Decapoda: Palaemonidae) en Venezuela

    OpenAIRE

    2016-01-01

    El camarón "gigante" de agua dulce Macrobrachium carcinus se encuentra presente en Venezuela tanto en puequeflos ríos litorales como en ríos más caudalosos. En el presente trabajo, seis machos y 22 hembras capturados en el río Manzanares del Edo. Sucre, fueron mantenidos durante 14 meses en el laboratorio con el objeto de hacer observaciones sobre el proceso de muda, apareamiento, desove, período de incubación, eclosión de los huevos y número de zonas/hembra. De los 33 procesos de muda observ...

  6. The Toxic Effects of Chloroform Stress Exposure on the Mediterranean Green Crab (Carcinus aestuarii

    Directory of Open Access Journals (Sweden)

    MARSILDA QYLI MEMAJ

    2016-12-01

    Full Text Available The presence of different chemical substances in the aquatic environment such as chloroform, present high concern for potential adverse effects on non-target species. Chloroform, is known more formally as trichloromethane (CHCl3. It is a volatile organic compounds (VOCs which can be founded most frequently in both surface and ground water. In Albania, studies which estimate the effect of chloroform in aquatic living organisms are not present. The current study evaluates the physiological response of Mediterranean green crab Carcinus aestuarii against to chloroform exposure by measuring the haemolymph glucose level enzimatically. 20 animals were used for this experiment. Ten green crabs were assigned as the eyestalk-ablated group and the remaining ten animals as an intact group. Animals were exposed to the diluted chloroform solution on the ratio 1:1000 for 15 min (concentration: 0.005g/L. During experiments, the time exposure was recorded. Before and after exposure, the haemolymph glucose level was measured and the results showed that haemolymph glucose level, which was measured into intact animals, was significantly increased (F= 8.93, df=1, 10, p=0.014 so p0.05. The results of chloroform stress exposure indicate an aquatic environmental risk of this chemical substance for living organisms even in low concentrations. Obtained data on the biological effect of chloroform on Mediterranean green crab, Carcinus aestuarii, showed that these species can be used as bio indicator for bio-monitoring pollution of the aquatic environment.

  7. [Nutrition of juvenile prawn Macrobrachium carcinus (Crustacea: Decapoda) with diets of vegetable and marine residues].

    Science.gov (United States)

    Casas-Sánchez, R; Vaillard-Nava, Y; Re-Araujo, A D

    1995-01-01

    Juvenile prawn Macrobrachium carcinus were fed two different diets: restaurant by-products (diet I) and fish and vegetable market by-products (diet II). These diets were evaluated by proximal analysis, assimilation efficiency and the factor conversion rate (FCR). Diet I registered a higher efficiency, but there was no difference in the growth rate. The growth mean (G. L.) for three months was 0.254 +/- 0.13 cm (diet I) and 0.191 +/- 0.1 cm (diet II). The conversion rate was good for both, suggesting that 6 to 7 kg of food are needed to obtain 1 kg of prawn. Survival was 76% and 100% for diets I and II, respectively.

  8. Physiological effects of metal toxicity on the tropical freshwater shrimp Microbrachium carcinus (Linneo, 1758).

    Science.gov (United States)

    Correa, M

    1987-01-01

    Pilot tests were performed to determine the level at which Zn(++) and Cu(++) ceased to be acutely toxic in Macrobrachium carcinus. The data indicated that the static 96h-LC(50) values for Zn(++) and Cu(++) were 0.2 and 0.1 mg litre(-1) respectively. A differential reduction in respiration and ammonia excretion rates was noted with increasing concentrations of these metals in the water. These levels may in a toxic body burden and a progressive deterioration of gill efficiency. A decrease in respiration and ammonia excretion rates resulted in a decrease in O:N ratios, upon exposure to Zn(++) and Cu(++) concentrations. The ratios obtained indicate that these metals, also increased dependence on carbohydrate or lipid reserves.

  9. Maturation and growth curves of Macrobrachium Carcinus (Linnaeus (Crustacea, Decapoda, Palaemonidae from Ribeira de Iguape River, southern Brazil

    Directory of Open Access Journals (Sweden)

    Wagner C Valenti

    1994-01-01

    Full Text Available In this paper, female Macrobrachium carcinus (Linnaeus, 1758 maturation curve, weight/length relationship, length and weight growth curves were studied. Prawns were captured, by traps, in Ribeira de Iguape river (24ºS and 47ºW, southern Brazil. There were used 207 females. It was observed that M. carcinus presents several spawnings during its life cycle and reproductive period goes on, at least till six years old. Weight/length relationship can be represented for the equation W = 8.73 E-3 L3.28. Expressions obtained for length and weight growth curves are Lt = 21 .0 (1-e-0493t and Wt= 190 (1-e-0493t3.28. respectively. A symptotic maximum length and asymptotic maximum weight are nearly attained at six and eight years old, respectively.

  10. Effects of different dietary of protein and lipid levels on the growth of freshwater prawns (Macrobrachium carcinus) broodstock

    OpenAIRE

    Mario Benítez-Mandujano; Jesús T. Ponce-Palafox

    2014-01-01

    ABSTRACTObjective. Evaluate the effects of varying dietary protein and lipid levels on the growth and body composition of adult freshwater prawns, Macrobrachium carcinus (Linnaeus 1758), in a recirculation system for 11 weeks (77 days). Materials and methods. The experimental treatments were assigned in triplicate. Six test diets were formulated with three different protein levels (35, 40 and 45%) and two lipid levels (8 and 13%). Results. The highest survival rate, growth indices and feed ut...

  11. Effects of different dietary of protein and lipid levels on the growth of freshwater prawns (Macrobrachium carcinus) broodstock

    OpenAIRE

    Mario Benítez-Mandujano; Jesús T. Ponce-Palafox

    2015-01-01

    ABSTRACTObjective. Evaluate the effects of varying dietary protein and lipid levels on the growth and body composition of adult freshwater prawns, Macrobrachium carcinus (Linnaeus 1758), in a recirculation system for 11 weeks (77 days). Materials and methods. The experimental treatments were assigned in triplicate. Six test diets were formulated with three different protein levels (35, 40 and 45%) and two lipid levels (8 and 13%). Results. The highest survival rate, growth indices and feed ut...

  12. Effects of different dietary of protein and lipid levels on the growth of freshwater prawns (Macrobrachium carcinus broodstock

    Directory of Open Access Journals (Sweden)

    Mario Benítez-Mandujano

    2014-03-01

    Full Text Available Objective. Evaluate the effects of varying dietary protein and lipid levels on the growth and body composition of adult freshwater prawns, Macrobrachium carcinus (Linnaeus 1758, in a recirculation system for 11 weeks (77 days. Materials and methods. The experimental treatments were assigned in triplicate. Six test diets were formulated with three different protein levels (35, 40 and 45% and two lipid levels (8 and 13%. Results. The highest survival rate, growth indices and feed utilization were observed for M. carcinus adults fed protein:lipid diets of 35:13, 40:13 and 45:13, and the lowest values for these parameters were recorded for prawns fed diets with the lowest lipid levels; the differences in these parameters between these types of diets were significant (p<0.05. A nonsignificant tendency for an increased percentage of protein in the body with an increased dietary protein level was observed. The percentage of lipids decreased with an increasing dietary protein level, and no definite trends in ash content were found. Conclusions. The results suggest that a diet with 35% dietary crude protein and 13% lipids enhances the growth and body composition of adult M. carcinus.

  13. Influência de diferentes dietas na sobrevivência larval do camarão de água doce Macrobrachium carcinus (Linnaeus, 1758) = Influence of different diets in freshwater prawn Macrobrachium carcinus (Linnaeus, 1758) larval survival

    OpenAIRE

    Edson Pereira dos Santos; Patrícia Maria Moraes da Silva; Eudes de Souza Correia; Albino Luciani Gonçalves Leal

    2007-01-01

    O trabalho objetivou avaliar diferentes dietas na larvicultura do pitu, Macrobrachium carcinus, visando melhorar o desempenho da produção de pós-larvas. As larvas (estádios V-VI) foram estocadas em 24 recipientes circulares de 20 litros, com sistemas de recirculação de água e aeração, nos quais foram estocadas 25 larvas/litro. Foram adotados quatro tratamentos (correspondentes às dietas) e seis repetições: 1) filé de peixe (Dp); 2) filé de peixe + biomassa de artêmia adulta (DpB); 3) dieta fo...

  14. Nutrición en juveniles del langostino Macrobrachium carcinus (Cmstacea: Decapoda) con dietas de residuos vegetales y marinos

    OpenAIRE

    Casas-Sánchez, Ruth; Vaillard-Nava, Yvette; Re-Araujo, Ana Denisse

    2015-01-01

    Juveniles del langostino Macrobrachium carcinus fueron alimentados con dos dietas: de desechos de restaurante (dieta 1) y de pescado y productos vegetales (dieta ll). Las dietas fueron evaluadas mediante análisis proximal, bioensayos de digestibilidad (Eficiencia de Asimilación), bioensayos de crecimiento y Factor de Conversión (FCR). A pesa:[" de que, los organismos asimilaron con mayor eficiencia la dieta 1, el crecimiento no fue diferente, siendo éste, en promedio para los tres meses del e...

  15. Use of morphological differences for the identification of two picarel species Spicara flexuosa and Spicara maena (Pisces: Centracanthidae

    Directory of Open Access Journals (Sweden)

    G. MINOS

    2013-07-01

    Full Text Available The recognition and identification of the two species of Spicara genus (Spicara flexuosa, picarel and Spicara maena, blotched picarel is difficult, due to a systematic confusion until now. In the present work a number of external morphometric features (ten body ratios are evaluated for their diagnostic possibilities. According to Principal Component Analysis results, the body ratios head length to standard length, head height to head length and the ratios of two body heights, indicated that these characters were not related to the maturity stage of the species. The discriminant analysis based on the above body ratios, indicated rather high level of discrimination (83.2% of the examined samples in two species. The results are discussed, and possibilities of improvement in the identification methodology for the two species are proposed.

  16. Influência de diferentes dietas na sobrevivência larval do camarão de água doce Macrobrachium carcinus (Linnaeus, 1758 = Influence of different diets in freshwater prawn Macrobrachium carcinus (Linnaeus, 1758 larval survival

    Directory of Open Access Journals (Sweden)

    Edson Pereira dos Santos

    2007-04-01

    Full Text Available O trabalho objetivou avaliar diferentes dietas na larvicultura do pitu, Macrobrachium carcinus, visando melhorar o desempenho da produção de pós-larvas. As larvas (estádios V-VI foram estocadas em 24 recipientes circulares de 20 litros, com sistemas de recirculação de água e aeração, nos quais foram estocadas 25 larvas/litro. Foram adotados quatro tratamentos (correspondentes às dietas e seis repetições: 1 filé de peixe (Dp; 2 filé de peixe + biomassa de artêmia adulta (DpB; 3 dieta formulada (Df; e 4 dieta formulada+ biomassa de artêmia adulta (DfB. As dietas foram ofertadas quatro vezes ao dia (07, 10, 13 e 16 horas durante 49 dias. No final do cultivo, as taxas de sobrevivência média das larvas foram 3,47; 7,40; 14,83 e 7,57%, respectivamente, para os tratamentos Dp, DpB, Df e DfB. No tratamento Dp obteve-se a menor sobrevivência (p ≤ 0,05. A maior sobrevivência (p ≤ 0,05 foi obtida com a dieta Df (14,83%, que se apresenta como a alternativa mais apropriada para a produção de pós-larvas de M. carcinus. Entretanto, o uso de biomassa deartêmia adulta pode resultar na melhoria da taxa de sobrevivência quando associada a filé de peixe.This work aimed to evaluate different diets in Macrobrachium carcinus larval culture in order to improve the performance of prawn postlarvaeproduction. Twenty-four 20 L circular recipients provided of water recirculating and aeration systems were used, where 25 larvae per liter were stocked (stages V-VI. Four treatments (related to diets and six replicates were adopted: 1 Fish flesh (Ff; 2 Fish flesh+ adult Artemia biomass (FfB; 3 Formulated diet (Fd; and 4 Formulated diet + adult Artemia biomass (FdB. The diets were offered four times a day (07:00, 10:00, 13:00 and 16:00 hrs during 49 days. At the end of culture, the average of larval survival rates were3.47, 7.40, 14.83 and 7.57%, respectively for Ff, FfB, Fd and FdB treatments. Ff treatment obtained the lowest survival (p ≤ 0

  17. PROTOCOLO PARA LA EXTRACCIÓN DE ADN METAGENÓMICO BACTERIANO DEL LANGOSTINO Macrobrachium carcinus L

    OpenAIRE

    J. Ulises González-de la Cruz; H. Delfin-González; Ma. C. de la Cruz-Leyva; R. A. Rojas-Herrera; M. Zamudio-Maya

    2011-01-01

    En este trabajo se adecuó un protocolo para la extracción de ADN metagenómico (ADNmg) bacteriano del sistema digestivo (intestino, estómago y hepatopáncreas) del langostino Macrobrachium carcinus L., tomando como referencia la metodología de extracción de ADN bacteriano de suelos y sedimentos (Rojas-Herrera et al., 2008). Esta metodología constaba de lisis enzimática, física, mecánica y química; después de una serie de ensayos se suprimió la lisis enzimática. Sin embargo, el éxito de la extra...

  18. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  19. An ENA ATPase, MaENA1, of Metarhizium acridum influences the Na(+)-, thermo- and UV-tolerances of conidia and is involved in multiple mechanisms of stress tolerance.

    Science.gov (United States)

    Ma, Qinsi; Jin, Kai; Peng, Guoxiong; Xia, Yuxian

    2015-10-01

    In fungi, ENA ATPases play key roles in osmotic and alkaline pH tolerance, although their functions in thermo- and UV-tolerances have not been explored. Entomopathogenic fungi are naturally widespread and have considerable potential in pest control. An ENA ATPase gene, MaENA1, from the entomopathogenic fungus Metarhizium acridum was functionally analyzed by deletion. MaENA1-disruption strain (ΔMaENA1) was less tolerant to NaCl, heat, and UV radiation than a wild-type strain (WT). Digital Gene Expression profiling of conidial RNAs resulted in 281 differentially expressed genes (DEGs) between the WT and ΔMaENA1 strains. Eighty-five DEGs, 56 of which were down-regulated in the ΔMaENA1 strain, were shown to be associated with heat/UV tolerance, including six cytochrome P450 superfamily genes, 35 oxidoreductase genes, 24 ion-binding genes, seven DNA repair genes, and five other genes. In addition, eight genes were components of stress responsive pathways, including the Ras-cAMP PKA pathway, the RIM101 pathway, the Ca(2+)/calmodulin pathway, the TOR pathway, and the HOG/Spc1/Sty1/JNK pathway. These results demonstrated that MaENA1 influences fungal tolerances to Na(+), heat, and UV radiation in M. acridum, and is involved in multiple mechanisms of stress tolerance. Therefore, MaENA1 is required for the adaptation and survival of entomopathogenic fungi in stressful conditions in the environment and in their hosts.

  20. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  1. Copper Induced Lysosomal Membrane Destabilisation in Haemolymph Cells of Mediterranean Green Crab (Carcinus aestuarii, Nardo, 1847 from the Narta Lagoon (Albania

    Directory of Open Access Journals (Sweden)

    Valbona Aliko

    2015-10-01

    Full Text Available ABSTRACTDestabilisation of blood cell lysosomes in Mediterranean green crabCarcinus aestuarii was investigated using Neutral Red Retention Assay (NRRA. Crabs collected in Narta Lagoon, Vlora (Albania during May 2014 were exposed in the laboratory to sub-lethal, environmentally realistic concentrations of copper. Neutral Red Retention Time (NRRT and glucose concentration in haemolymph of animals were measured. The mean NRRT showed a significant reduction for the animals of the treatment group compared to the control one (from 118.6 ± 28.4 to 36.4 ± 10.48 min, p<0.05, indicating damage of lysosomal membrane. Haemolymph glucose concentration was significantly higher in the treatment group (from 37.8 ± 2.7 to 137.8.4 ± 16.2 mg/dL, p<0.05 than in control group, demonstrating the presence of stress on the animals. These results showed thatC. aestuarii could be used as a successful and reliable bioindicator for evaluating the exposure to contaminants in laboratory conditions. NRRA provides a successful tool for rapid assessment of heavy metal pollution effects on marine biota.

  2. Influência de diferentes dietas na sobrevivência larval do camarãode água doce Macrobrachium carcinus (Linnaeus, 1758) - DOI: 10.4025/actascibiolsci.v29i2.444

    OpenAIRE

    Santos, Edson Pereira dos; UFRPE; Gonçalves Leal, Albino Luciani; UFRPE; Silva, Patrícia Maria Moraes da; FESO; Correia, Eudes de Souza; UFRPE

    2007-01-01

    O trabalho objetivou avaliar diferentes dietas na larvicultura do pitu, Macrobrachium carcinus, visando melhorar o desempenho da produção de pós-larvas. As larvas (estádios V-VI) foram estocadas em 24 recipientes circulares de 20 litros, com sistemas de recirculação de água e aeração, nos quais foram estocadas 25 larvas/litro. Foram adotados quatro tratamentos (correspondentes às dietas) e seis repetições: 1) filé de peixe (Dp); 2) filé de peixe + biomassa de artêmia adulta (DpB); 3) dieta fo...

  3. Potentialités et intérêts de l'élevage larvaire de la crevette d'eau douce indigène Macrobrachium carcinus (L. (Palaemonidae aux Antilles françaises

    Directory of Open Access Journals (Sweden)

    HERMAN F.

    1999-01-01

    Full Text Available De précédents travaux, réalisés en laboratoire, ont montré que le développement larvaire de Macrobrachium carcinus nécessitait un environnement salin. Le nombre de larves mises en élevage lors de ces essais était cependant trop faible pour envisager une production de masse de l'espèce. Lors de l'expérience ici présentée, 46.900 larves au stade I ont été mises en élevage à une température oscillant entre 28 et 30°C. Il a été montré qu'en faisant varier la salinité, la production de masse de post-larves était possible en 45 jours, avec un taux de survie finale de 14,3 % et un taux de métamorphose de 10,6 %. Ces résultats sont nettement inférieurs à ceux obtenus en routine avec l'espèce indonésienne Macrobrachium rosenbergii, mais attestent des possibilités d'élevage de M. carcinus aux Antilles françaises et ailleurs.

  4. Potentialités et intérêts de l'élevage larvaire de la crevette d'eau douce indigène Macrobrachium carcinus (L.) (Palaemonidae) aux Antilles françaises

    OpenAIRE

    Herman, F.; Fièvet, E.; BOUCHER P.

    1999-01-01

    De précédents travaux, réalisés en laboratoire, ont montré que le développement larvaire de Macrobrachium carcinus nécessitait un environnement salin. Le nombre de larves mises en élevage lors de ces essais était cependant trop faible pour envisager une production de masse de l'espèce. Lors de l'expérience ici présentée, 46.900 larves au stade I ont été mises en élevage à une température oscillant entre 28 et 30°C. Il a été montré qu'en faisant varier la salinité, la production de masse de po...

  5. Parasit-manipulation: Rodkrebs-infektion svækker strandkrabbers konkurrenceevne

    DEFF Research Database (Denmark)

    Bech, Karen; Mouritsen, Kim Nørgaard; Glenner, Henrik

    I dette studie undersøger vi effekterne af rodkrebsen Sacculina carcini på dens vært, den europæiske strandkrabbe (Carcinus maenas), med fokus på parasit-inducerede ændringer i krabbens aggressivitet. Da han-krabber bliver morfologisk og adfærdsmæssigt feminiseret af parasitten, er hypotesen...

  6. Acidification and warming affect both a calcifying predator and prey, but not their interaction

    DEFF Research Database (Denmark)

    Landes, Anja; Zimmer, Martin

    2012-01-01

    Carcinus maenas and periwinkles Littorina littorea under conditions that mimicked either ambient conditions (control) or warming and acidification, both separately and in combination, for 5 mo. After 5 mo, the predators, prey and predator-prey interactions were screened for changes in response...

  7. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Genetic Information Nondiscrimination Act Genetic Discrimination and ... gov/employees/process.cfm Top of page Genetic Discrimination and Other Laws Bill Clinton's Executive Order Prohibiting ...

  8. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  9. Influência de diferentes dietas na sobrevivência larval do camarãode água doce Macrobrachium carcinus (Linnaeus, 1758 - DOI: 10.4025/actascibiolsci.v29i2.444 Influence of different diets in freshwater prawn Macrobrachiumcarcinus (Linnaeus, 1758 larval survival - DOI: 10.4025/actascibiolsci.v29i2.444

    Directory of Open Access Journals (Sweden)

    Patrícia Maria Moraes da Silva

    2007-12-01

    Full Text Available O trabalho objetivou avaliar diferentes dietas na larvicultura do pitu, Macrobrachium carcinus, visando melhorar o desempenho da produção de pós-larvas. As larvas (estádios V-VI foram estocadas em 24 recipientes circulares de 20 litros, com sistemas de recirculação de água e aeração, nos quais foram estocadas 25 larvas/litro. Foram adotados quatro tratamentos (correspondentes às dietas e seis repetições: 1 filé de peixe (Dp; 2 filé de peixe + biomassa de artêmia adulta (DpB; 3 dieta formulada (Df; e 4 dieta formulada + biomassa de artêmia adulta (DfB. As dietas foram ofertadas quatro vezes ao dia (07, 10, 13 e 16 horas durante 49 dias. No final do cultivo, as taxas de sobrevivência média das larvas foram 3,47; 7,40; 14,83 e 7,57%, respectivamente, para os tratamentos Dp, DpB, Df e DfB. No tratamento Dp obteve-se a menor sobrevivência (p ≤ 0,05. A maior sobrevivência (p ≤ 0,05 foi obtida com a dieta Df (14,83%, que se apresenta como a alternativa mais apropriada para a produção de pós-larvas de M. carcinus. Entretanto, o uso de biomassa de artêmia adulta pode resultar na melhoria da taxa de sobrevivência quando associada a filé de peixe.This work aimed to evaluate different diets in Macrobrachium carcinus larval culture in order to improve the performance of prawn postlarvae production. Twenty-four 20 L circular recipients provided of water recirculating and aeration systems were used, where 25 larvae per liter were stocked (stages V-VI. Four treatments (related to diets and six replicates were adopted: 1 Fish flesh (Ff; 2 Fish flesh + adult Artemia biomass (FfB; 3 Formulated diet (Fd; and 4 Formulated diet + adult Artemia biomass (FdB. The diets were offered four times a day (07:00, 10:00, 13:00 and 16:00 hrs during 49 days. At the end of culture, the average of larval survival rates were 3.47, 7.40, 14.83 and 7.57%, respectively for Ff, FfB, Fd and FdB treatments. Ff treatment obtained the lowest survival (p ≤ 0

  10. Community shelter use in response to two benthic decapod predators in the Long Island Sound

    Science.gov (United States)

    Reagan, Dugan; Crivello, Joseph F.

    2016-01-01

    To investigate community shelter effects of two invasive decapod species, Hemigrapsus sanguineus and Carcinus maenas, in the Long Island Sound (LIS), we deployed artificial shelters in the intertidal and immediate subtidal zones. These consisted of five groups during the summer: a control, a resident H. sanguineus male or female group, and a resident C. maenas male or female group. We quantified utilization of the shelters at 24 h by counting crabs and fish present. We found significant avoidance of H. sanguineus in the field by benthic hermit crabs (Pagurus spp.) and significant avoidance of C. maenas by the seaboard goby (Gobiosoma ginsburgi). The grubby (Myoxocephalus aenaeus) avoided neither treatment, probably since it tends to be a predator of invertebrates. H. sanguineus avoided C. maenas treatments, whereas C. maenas did not avoid any treatment. Seasonal deployments in the subtidal indicated cohabitation of a number of benthic species in the LIS, with peak shelter use corresponding with increased predation and likely reproductive activity in spring and summer for green crabs (C. maenas), hermit crabs (Pagurus spp.), seaboard gobies (G. ginsburgi), and grubbies (Myoxocephalus aenaeus). PMID:27547570

  11. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  12. Genetic Mapping

    Science.gov (United States)

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers create ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human Genome ...

  13. Influência de diferentes dietas na sobrevivência larval do camarãode água doce Macrobrachium carcinus (Linnaeus, 1758) - DOI: 10.4025/actascibiolsci.v29i2.444 Influence of different diets in freshwater prawn Macrobrachiumcarcinus (Linnaeus, 1758) larval survival - DOI: 10.4025/actascibiolsci.v29i2.444

    OpenAIRE

    Patrícia Maria Moraes da Silva; Albino Luciani Gonçalves Leal; Edson Pereira dos Santos; Eudes de Souza Correia

    2007-01-01

    O trabalho objetivou avaliar diferentes dietas na larvicultura do pitu, Macrobrachium carcinus, visando melhorar o desempenho da produção de pós-larvas. As larvas (estádios V-VI) foram estocadas em 24 recipientes circulares de 20 litros, com sistemas de recirculação de água e aeração, nos quais foram estocadas 25 larvas/litro. Foram adotados quatro tratamentos (correspondentes às dietas) e seis repetições: 1) filé de peixe (Dp); 2) filé de peixe + biomassa de artêmia adulta (DpB); 3) dieta fo...

  14. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  15. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  16. Genetic counseling

    Science.gov (United States)

    ... will want to think about your personal desires, religious beliefs, and family circumstances. Some people have a ... purpose of genetic counseling is simply to help parents make informed decisions. A genetic counselor will help ...

  17. Genetic modification and genetic determinism.

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  18. Genetic principles.

    Science.gov (United States)

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  19. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  20. Genetic modification and genetic determinism

    OpenAIRE

    Vorhaus Daniel B; Resnik David B

    2006-01-01

    Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound....

  1. Genetic barcodes

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  2. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  3. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  4. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  5. Genetic Breakthrough

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    A new calf breeding technique shows promise for treating malignant tumors Chinese scientists have successfully bred a genetically altered cow capable of producing cancer-curing proteins for human beings.

  6. Mitochondrial genetics

    OpenAIRE

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was con...

  7. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  8. RNA genetics

    Energy Technology Data Exchange (ETDEWEB)

    Domingo, E. (Instituto de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma de Madrid, Canto Blanco, Madrid (ES)); Holland, J.J. (California Univ., San Diego, La Jolla, CA (USA). Dept. of Biology); Ahlquist, P. (Wisconsin Univ., Madison, WI (USA). Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  9. Differential escape from parasites by two competing introduced crabs

    Science.gov (United States)

    Blakeslee, April M.; Keogh, Carolyn L.; Byers, James E.; Kuris, Armand M.; Lafferty, Kevin D.; Torchin, Mark E.

    2009-01-01

    Although introduced species often interact with one another in their novel communities, the role of parasites in these interactions remains less clear. We examined parasite richness and prevalence in 2 shorecrab species with different invasion histories and residency times in an introduced region where their distributions overlap broadly. On the northeastern coast of the USA, the Asian shorecrab Hemigrapsus sanguineus was discovered 20 yr ago, while the European green crab Carcinus maenas has been established for over 200 yr. We used literature and field surveys to evaluate parasitism in both crabs in their native and introduced ranges. We found only 1 parasite species infecting H. sanguineus on the US East Coast compared to 6 species in its native range, while C. maenas was host to 3 parasite species on the East Coast compared to 10 in its native range. The prevalence of parasite infection was also lower for both crabs in the introduced range compared to their native ranges; however, the difference was almost twice as much for H. sanguineus as for C. maenas. There are several explanations that could contribute to C. maenas' greater parasite diversity than that of H. sanguineus on the US East Coast, including differences in susceptibility, time since introduction, manner of introduction (vector), distance from native range, taxonomic isolation, and the potential for parasite identification bias. Our study underscores not just that non-native species lose parasites upon introduction, but that they may do so differentially, with ramifications for their direct interactions and with potential community-level influences.

  10. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2016-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... of heritable melanoma risk genes is an important component of disease occurrence. Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT. However, despite such mutations being implicated...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...

  11. Genetic Testing for ALS

    Science.gov (United States)

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor ... in your area, please visit www.nsgc.org . Genetic Testing Genetic testing can help determine the cause of ...

  12. Genetic Science Learning Center

    Science.gov (United States)

    ... Mouse Party on Learn.Genetics.utah.edu Students doing the Tree of Genetic Traits activity Learn.Genetics is one of the most widely used science education websites in the world The Community Genetics ...

  13. Quantitation of peptide hormone in single cultured secretory neurons of the crab, Cardisoma carnifex.

    Science.gov (United States)

    Keller, R; Grau, S; Cooke, I M

    1995-09-01

    The content of crustacean hyperglycemic hormone (CHH) in single cultured neurons of the crab Cardisoma carnifex was determined by a sensitive enzyme-linked immunosorbent assay (ELISA), using purified CHH (1-50 pg) of the crab Carcinus maenas as standard. The somata were dissociated from the group of approximately 150 peptidergic neurons that form the X-organ--sinus gland neuroendocrine system. As previously reported, the neurons show immediate regenerative outgrowth in defined culture conditions, and develop, generally, into one of two morphological types: cells that produce broad, lamelliform growth cones (veils), and others that are characterized by branching of neurites. In this study, all but one of 64 veiling cells taken after various times in culture up to 12 days contained CHH. They could be readily categorized as having "high" (> 33 pg; mean 86 +/- 5, S.E., n = 47) or "low" (< or = 33 pg; mean 22 +/- 2.5; n = 17) Carcinus CHH equivalents. Thus, CHH is associated with neurons showing veiling outgrowth, but veiling neurons with low CHH form a distinct, but not morphologically distinguishable group. They may contain an isoform of CHH with limited cross-reactivity. In 24 branching neurons assayed, Carcinus CHH equivalents averaged 7.2 +/- 2 pg. This figure includes 14 neurons in which CHH was undetectable, and one that had 40 pg of Carcinus CHH equivalents. There was no significant change of the hormone content in cells of either type during 6 days of culturing.

  14. A genetic engineering approach to genetic algorithms.

    Science.gov (United States)

    Gero, J S; Kazakov, V

    2001-01-01

    We present an extension to the standard genetic algorithm (GA), which is based on concepts of genetic engineering. The motivation is to discover useful and harmful genetic materials and then execute an evolutionary process in such a way that the population becomes increasingly composed of useful genetic material and increasingly free of the harmful genetic material. Compared to the standard GA, it provides some computational advantages as well as a tool for automatic generation of hierarchical genetic representations specifically tailored to suit certain classes of problems.

  15. Applying the New Genetics

    Science.gov (United States)

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  16. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  17. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... a rare disorder with approximately 100 cases described worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  18. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected ... What information about a genetic condition can statistics provide? Why are some genetic ...

  19. Genetic aspects and genetic epidemiology of parasomnias.

    Science.gov (United States)

    Hublin, Christer; Kaprio, Jaakko

    2003-10-01

    Parasomnias are undesirable phenomena associated with sleep. Many of them run in families, and genetic factors have been long suggested to be involved in their occurrence. This article reviews the present knowledge of the genetics of the major classical behavioral parasomnias as well as present results from genetic epidemiological studies. The level and type of evidence for genetic effects varies much from parasomnia to parasomnia. The genetic factors are best established in enuresis, with several linkages to chromosomal loci, but their functions are not so far known. Environmental causes and gene-environment interactions are most probably also of great importance in the origin of complex traits or disorders such as parasomnias.

  20. Trading green backs for green crabs: evaluating the commercial shellfish harvest at risk from European green crab invasion [v3; ref status: indexed, http://f1000r.es/4jf

    Directory of Open Access Journals (Sweden)

    Megan E Mach

    2014-10-01

    Full Text Available Nonnative species pose a threat to native biodiversity and can have immense impacts on biological communities, altering the function of ecosystems. How much value is at risk from high-impact invasive species, and which parameters determine variation in that value, constitutes critical knowledge for directing both management and research, but it is rarely available. We evaluated the value of the commercial shellfish harvest that is at risk in nearshore ecosystems of Puget Sound, Washington State, USA, from the invasive European green crab, Carcinus maenas. We assessed this value using a simple static ecological model combined with an economic model using data from Puget Sound’s shellfish harvest and revenue and the relationship between C. maenas abundance and the consumption rate of shellfish. The model incorporates a range in C. maenas diet preference, calories consumed per year, and crab densities. C. maenas is likely to prey on commercially harvested hardshell clams, oysters, and mussels, which would likely reduce additional revenue from processing and distribution, and the number of jobs associated with these fisheries. The model results suggest possible revenue losses of these shellfish ranging from $1.03-23.8 million USD year-1 (2.8-64% losses, with additional processing and distribution losses up to $17.6 million USD and 442 job positions each year associated with a range of plausible parameter values. The broad range of values reflects the uncertainty in key factors underlying impacts, factors that are highly variable across invaded regions and so not knowable a priori. However, future research evaluating species invasions can reduce the uncertainty of impacts by characterizing several key parameters: density of individuals, number of arrivals, predation and competition interactions, and economic impacts. This study therefore provides direction for research to inform more accurate estimates of value-at-risk, and suggests substantial

  1. Trading green backs for green crabs: evaluating the commercial shellfish harvest at risk to European green crab invasion [v2; ref status: indexed, http://f1000r.es/32t

    Directory of Open Access Journals (Sweden)

    Megan E Mach

    2014-03-01

    Full Text Available Nonnative species pose a threat to native biodiversity and can have immense impacts on biological communities, altering the function of ecosystems. How much value is at risk from high-impact invasive species, and which parameters determine variation in that value, constitutes critical knowledge for directing both management and research, but it is rarely available. We evaluated the value of the commercial shellfish harvest that is at risk in nearshore ecosystems of Puget Sound, Washington State, USA, from the invasive European green crab, Carcinus maenas. We assessed this value using a simple static ecological model combined with an economic model using data from Puget Sound’s shellfish harvest and revenue and the relationship between C. maenas abundance and the consumption rate of shellfish. The model incorporates a range in C. maenas diet preference, calories consumed per year, and crab densities. C. maenas is likely to prey on commercially harvested hardshell clams, oysters, and mussels, which would likely reduce additional revenue from processing and distribution, and the number of jobs associated with these fisheries. The model results suggest possible revenue losses of these shellfish ranging from $1.03-23.8 million USD (2.8-64% losses, with additional processing and distrubution losses up to $17.6 million USD and 442 job positions each year associated with a range of plausible parameter values. The broad range of values reflects the uncertainty in key factors underlying impacts, factors that are highly variable across invaded regions and so not knowable a priori. However, future research evaluating species invasions can reduce the uncertainty of impacts by characterizing several key parameters: density of individuals, number of arrivals, predation and competition interactions, and economic impacts. This study therefore provides direction for research to inform more accurate estimates of value-at-risk, and suggests substantial motivation

  2. Possible causes for growth variability and summer growth reduction in juvenile plaice Pleuronectes platessa L. in the western Dutch Wadden Sea

    Science.gov (United States)

    van der Veer, Henk W.; Jung, Alexa Sarina; Freitas, Vânia; Philippart, Catharina J. M.; Witte, Johannes IJ.

    2016-05-01

    Growth variability within individuals and among groups and locations and the phenomenon of summer growth reduction has been described for juvenile flatfish in a variety of European coastal areas whereby the underlying causes still remain elusive. Potential mechanisms were tested for juvenile plaice Pleuronectes platessa L. in the western Dutch Wadden Sea, by analysing published and unpublished information from long-term investigations (1986-present). Growth variability did occur and could be explained by differences induced by environmental variability (water temperature), and by non-genetic irreversible adaptation and sex. Dynamic Energy Budget analysis indicated that especially sexually-dimorphic growth in combination with variability in sex ratio could explain most of the variability in growth and the increase in the range of the size of individuals within the population over time. Summer growth reduction was not only observed among 0-group plaice in the intertidal, but also in the subtidal and tidal gullies as well as among I- and II-group plaice. Intraspecific competition for food was not detected but some support for interspecific competition with other predators was found. Also resource competition (due to crowding) with the other abundant epibenthic species (0-, I- and II-group flounder Platichthys flesus; the brown shrimp Crangon crangon; the shore crab Carcinus maenas; the goby species Pomatoschistus minutus and Pomatoschistus microps) could not explain the summer growth reduction. The observed growth reduction coincided with a decrease in stomach content, especially of regenerating body parts of benthic prey items. It is hypothesised that macrozoobenthos becomes less active after the spring phytoplankton bloom, reducing prey availability for juvenile plaice in summer, causing a reduction in food intake and hence in growth.

  3. Genetic engineering, medicine and medical genetics.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

  4. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran

    2013-01-01

    Full Text Available During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.

  5. Genetic Testing Registry

    Science.gov (United States)

    ... Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing Registry Influenza Virus Map Viewer Online Mendelian Inheritance ... My NCBI Sign in to NCBI Sign Out Genetic Testing Registry All GTR Tests Conditions/Phenotypes Genes Labs ...

  6. Software For Genetic Algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steve E.

    1992-01-01

    SPLICER computer program is genetic-algorithm software tool used to solve search and optimization problems. Provides underlying framework and structure for building genetic-algorithm application program. Written in Think C.

  7. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  8. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  9. Genetics of Hearing Loss

    Science.gov (United States)

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  10. Frontotemporal Dementia: Genetics

    Science.gov (United States)

    ... Calendar of Events Fundraising Events Conferences Press Releases Genetics of FTD After receiving a diagnosis of FTD ... that recent advances in science have brought the genetics of FTD into much better focus. In 2012, ...

  11. Genetics by the Numbers

    Science.gov (United States)

    ... View All Articles | Inside Life Science Home Page Genetics by the Numbers By Chelsea Toledo and Kirstie ... June 11, 2012 Scholars have been studying modern genetics since the mid-19th century, but even today ...

  12. Genetic Disease Foundation

    Science.gov (United States)

    ... Newly Diagnosed Patients There are over 6,000 genetic disorders that can be passed down through the ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You ...

  13. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  14. Genetics Home Reference

    Science.gov (United States)

    ... changes Browse A–Z Chromosomes & mtDNA Autosomes, sex chromosomes, and mitochondrial DNA (mtDNA) Browse Help Me Understand Genetics Learn about the basics of human genetics Browse New & Updated Pages New Pages Omenn ...

  15. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  16. Behavioral genetics and taste

    Directory of Open Access Journals (Sweden)

    Bachmanov Alexander A

    2007-09-01

    Full Text Available Abstract This review focuses on behavioral genetic studies of sweet, umami, bitter and salt taste responses in mammals. Studies involving mouse inbred strain comparisons and genetic analyses, and their impact on elucidation of taste receptors and transduction mechanisms are discussed. Finally, the effect of genetic variation in taste responsiveness on complex traits such as drug intake is considered. Recent advances in development of genomic resources make behavioral genetics a powerful approach for understanding mechanisms of taste.

  17. Basic genetics for dermatologists

    OpenAIRE

    Muthu Sendhil Kumaran; De, Dipankar

    2013-01-01

    During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we hav...

  18. Report: Human cancer genetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; ALBERTSON Donna

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  19. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  20. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  1. Human cancer genetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  2. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in,…

  3. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  4. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome.

  5. GENETICS AND GENOMICS OF PLANT GENETIC RESOURCES

    Directory of Open Access Journals (Sweden)

    Börner A.

    2012-08-01

    Full Text Available Plant genetic resources play a major role for global food security. The most significant and widespread mean of conserving plant genetic resources is ex situ conservation. Most conserved accessions are kept in specialized facilities known as genebanks maintained by public or private institutions. World-wide 7.4 million accessions are stored in about 1,500 ex situ genebanks.In addition, series of genetic stocks including chromosome substitution lines, alloplasmic lines, single chromosome recombinant lines, introgression lines, etc. have been created. Analysing these genetic stocks many qualitative and quantitative inherited traits were associated to certain chromosomes, chromosome arms or introgressed segments. Today, genetic stocks are supplemented by a huge number of genotyped mapping populations. Beside progenies of bi-parental crosses (doubled haploid lines, recombinant inbred lines, etc. panels for association mapping were created recently.In our presentation we give examples for the successful utilisation of genebank accessions and genetic stocks for genetic and genomic studies. Using both segregation and association mapping approaches, data on mapping of loci/marker trait associations for a range of different traits are presented.

  6. Primer on genetic counseling.

    Science.gov (United States)

    Hahn, Susan Estabrooks

    2011-04-01

    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  7. How Is Genetic Testing Done?

    Science.gov (United States)

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed with ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors offers ...

  8. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... influence on heredity and genealogy. Topics in the Genetic Testing chapter What is genetic testing? What are the types of genetic tests? How is genetic testing done? What is informed consent? What is direct- ...

  9. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print A ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  10. Genetic interest assessment

    Science.gov (United States)

    Doughney, Erin

    Genetics is becoming increasingly integrated into peoples' lives. Different measures have been taken to try and better genetics education. This thesis examined undergraduate students at the University of North Texas not majoring in the life sciences interest in genetic concepts through the means of a Likert style survey. ANOVA analysis showed there was variation amongst the interest level in different genetic concepts. In addition age and lecture were also analyzed as contributing factors to students' interest. Both age and lecture were evaluated to see if they contributed to the interest of students in genetic concepts and neither showed statistical significance. The Genetic Interest Assessment (GIA) serves to help mediate the gap between genetic curriculum and students' interest.

  11. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  12. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  13. Molecular Population Genetics

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-01-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. PMID:28270526

  14. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  15. Genetic toxicology: web resources.

    Science.gov (United States)

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  16. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics....

  17. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  18. Genetic Programming and Genetic Algorithms for Propositions

    Directory of Open Access Journals (Sweden)

    Nabil M. HEWAHI

    2012-01-01

    Full Text Available In this paper we propose a mechanism to discover the compound proposition solutions for a given truth table without knowing the compound propositions that lead to the truth table results. The approach is based on two proposed algorithms, the first is called Producing Formula (PF algorithm which is based on the genetic programming idea, to find out the compound proposition solutions for the given truth table. The second algorithm is called the Solutions Optimization (SO algorithm which is based on genetic algorithms idea, to find a list of the optimum compound propositions that can solve the truth table. The obtained list will depend on the solutions obtained from the PF algorithm. Various types of genetic operators have been introduced to obtain the solutions either within the PF algorithm or SO algorithm.

  19. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  20. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  1. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  2. Ethical issues in genetics.

    Science.gov (United States)

    Shannon, T A

    1999-03-01

    The first section of the Notes on Moral Theology reviews ethical issues in genetics through the lenses of privacy-confidentiality; risk-benefit analysis in relation to prenatal diagnosis and gene therapy; and freedom-determinism/human dignity in the context of cloning. The author provides an overview of developments in genetics and highlights thematic issues common to these developments.

  3. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  4. Frequently Asked Questions about Genetic Testing

    Science.gov (United States)

    ... Care Specific Genetic Disorders Frequently Asked Questions About Genetic Testing What is genetic testing? What can I learn ... find more information about genetic testing? What is genetic testing? Genetic testing uses laboratory methods to look at ...

  5. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  6. Cryptic Genetic Variation in Evolutionary Developmental Genetics.

    Science.gov (United States)

    Paaby, Annalise B; Gibson, Greg

    2016-06-13

    Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes-processes that cannot be fully observed in continuously varying visible traits.

  7. Genetics of hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Andreas Teufel; Frank Staib; Stephan Kanzler; Arndt Weinmann; Henning Schulze-Bergkamen; Peter R Galle

    2007-01-01

    The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such as p53, Wntsignalling, TGFβ, Ras, and Rb pathways. Furthermore, we describe the influence of chromosomal aberrations as well as of DNA methylation. Finally, we report on the rapidly developing field of genomic expression profiling in HCC, mainly by microarray analysis.

  8. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  9. Genetics Home Reference: vibratory urticaria

    Science.gov (United States)

    ... in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected ... Genetic Testing (2 links) Genetic Testing Registry: Vibratory angioedema Genetic Testing Registry: Vibratory urticaria General Information from ...

  10. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  11. Genetics Home Reference: Aicardi syndrome

    Science.gov (United States)

    ... that there are approximately 4,000 affected individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  12. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... unknown. The condition has been found in populations worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  13. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of ... Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. Epub 2007 Aug 30. ...

  14. Genetics Blood Card Use

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — SOP guiding collection of blood for genetics analysis. Provides stepwise instructions and guidance on how to collect DNA sample using a whole blood blot card

  15. Genetics Home Reference: macrozoospermia

    Science.gov (United States)

    ... biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to ...

  16. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  17. Genetics Home Reference: schizophrenia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions schizophrenia schizophrenia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Schizophrenia is a mental health disorder classified as a ...

  18. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions hemophilia hemophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hemophilia is a bleeding disorder that slows the blood ...

  19. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  20. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  1. Genetics and identity.

    Science.gov (United States)

    Nordgren, Anders

    2008-01-01

    For the last 20 years the concepts of identity and identification have been subject to much interest in the humanities and social sciences. However, the implications of genetics for identity and identification have been largely neglected. In this paper, I distinguish various conceptions of identity (as continuity over time, as basic kind of being, as unique set of properties, and as social role) and identification (as subjective experience of identity in various senses and as social ascription of identity in various senses), and investigate systematically genetic perspectives on each of these conceptions. I stress the importance of taking the genetic perspectives seriously but also their limitations. In particular, I pinpoint conceptual problems that arise when a genetic approach to identity is adopted.

  2. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  3. Genetic Sample Inventory

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected primarily from the U.S. east coast. The collection includes samples from field programs,...

  4. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions preeclampsia preeclampsia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Preeclampsia is a complication of pregnancy in which affected ...

  5. Genetic Sample Inventory - NRDA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected in the North-Central Gulf of Mexico from 2010-2015. The collection includes samples from...

  6. The genetics of deliria

    NARCIS (Netherlands)

    D. Adamis; B.C. van Munster; A.J.D. Macdonald

    2009-01-01

    Delirium not induced by alcohol or other psychoactive substance and alcohol withdrawal delirium (or delirium tremens) are both cerebral syndromes with similar presentations and are associated with various adverse outcomes. Recently, interest in identifying genetic predisposing factors that influence

  7. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela;

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  8. Latest Research: Genetic Links

    Science.gov (United States)

    ... Current Issue Past Issues Feature: Vision Latest Research: Genetic Links Past Issues / Summer 2008 Table of Contents ... inside the eye is a risk factor for glaucoma. Summer 2008 Issue: Volume 3 Number 3 Page ...

  9. Genetics Home Reference: cholangiocarcinoma

    Science.gov (United States)

    ... certain lifestyle factors, including smoking, alcohol use, and obesity, may also contribute to the risk of developing cholangiocarcinoma . Studies suggest that a combination of genetic, environmental, and lifestyle factors influence whether a person will develop cholangiocarcinoma . However, ...

  10. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... the neck can cause nerve damage known as Horner syndrome , which leads to drooping eyelids, small pupils, ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Horner Syndrome Encyclopedia: Neuroblastoma Health Topic: Neuroblastoma Genetic and ...

  11. Genetics and the Brain

    Science.gov (United States)

    ... gene: a spiral of DNA that superintends its construction out of amino acids. In recent decades, genetic ... inbox. Subscribe Now Privacy Policy × × --> © 2017 The Dana Foundation. All Rights Reserved. 505 Fifth Avenue, 6th floor ...

  12. [Genetics of neuropathies].

    Science.gov (United States)

    Gess, B; Schirmacher, A; Young, P

    2013-02-01

    Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.

  13. Genetics Home Reference: galactosemia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions galactosemia galactosemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Galactosemia is a disorder that affects how the body ...

  14. Genetics Home Reference: schwannomatosis

    Science.gov (United States)

    ... areas where there are no known tumors. The pain associated with this condition ranges from mild to ... Additional genetic changes (somatic mutations) that are acquired during a person's lifetime ...

  15. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  16. Genetic testing in hyperlipidemia.

    Science.gov (United States)

    Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

    2015-05-01

    Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

  17. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  18. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  19. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  20. Genetic diseases in adults.

    Science.gov (United States)

    Kolettis, Peter N

    2003-02-01

    Genetic diseases that do not primarily affect the genitourinary tract may have urologic manifestations. These urologic manifestations range from benign and malignant renal disease to infertility. Thus, the practicing urologist may be involved in the care of these patients and should have knowledge of these diseases. Continued improvements in the diagnosis and treatment of these genetic diseases will likely result in improved survival and will increase the number of patients who may develop urologic manifestations of these diseases.

  1. Primer on molecular genetics

    Energy Technology Data Exchange (ETDEWEB)

    1992-04-01

    This report is taken from the April 1992 draft of the DOE Human Genome 1991--1992 Program Report, which is expected to be published in May 1992. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project. The material contained herein is not final and may be incomplete. Techniques of genetic mapping and DNA sequencing are described.

  2. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  3. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  4. Genetic aspects of female reproduction

    NARCIS (Netherlands)

    Collins, J.; Diedrich, K.; Franks, S.; Geraedts, J. P. M.; Jacobs, P. A.; Karges, B.; Kennedy, S.; Marozzi, A.; Regan, L.; Baird, D. T.; Crosignani, P. G.; Devroey, P.; Diczfalusy, E.; Evers, J. L. H.; Fauser, B. C. J. M.; Fraser, L.; Gianaroli, L.; Glasier, A.; Liebaers, I.; Ragni, G.; Sunde, A.; Tarlatzis, B.; Van Steirteghem, A.

    2008-01-01

    BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders.METHODS: Searches were done by sub

  5. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  6. Genetic of uveitis.

    Science.gov (United States)

    Pichi, Francesco; Carrai, Paola; Srivastava, Sunil K; Lowder, Careen Y; Nucci, Paolo; Neri, Piergiorgio

    2016-06-01

    Immune-mediated uveitis may be associated with a systemic disease or may be localized to the eye. T-cell-dependent immunological events are increasingly being regarded as extremely important in the pathogenesis of uveitis. Several studies have also shown that macrophages are major effectors of tissue damage in uveitis. Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. This review attempts to present the current state of knowledge from in vitro and in vivo research on the role of genetics in the development and clinical course of uveitis. A review of the literature in the PubMed, MEDLINE, and Cochrane databases was conducted to identify clinical trials, comparative studies, case series, and case reports describing host genetic factors as well as immune imbalance which contribute to the development of uveitis. The search was limited to primary reports published in English with human subjects from 1990 to the present, yielding 3590 manuscripts. In addition, referenced articles from the initial searches were hand searched to identify additional relevant reports. After title and abstract selection, duplicate elimination, and manual search, 55 papers were selected for analysis and reviewed by the authors for inclusion in this review. Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system. When considering the genetics of uveitis, common threads can be identified. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have a uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the

  7. Genetic Testing for Hereditary Colorectal Cancer

    Science.gov (United States)

    ... genetic counseling, and a genetic counselor may recommend genetic testing based on your family health history. When collecting ... find information on colorectal cancer, Lynch syndrome, cancer genetic testing, and genetic counseling services. Colorectal Cancer, Centers for ...

  8. Frequently Asked Questions about Genetic Counseling

    Science.gov (United States)

    ... on this page Frequently Asked Questions About Genetic Counseling What are genetic professionals and what do they ... genetics nurses. Top of page What is genetic counseling and evaluation? Genetic professionals work as members of ...

  9. Genetic diversity and disease susceptibility.

    OpenAIRE

    Bodmer, W F

    1997-01-01

    The range of genetic diversity within human populations is enormous. Genetic susceptibility to common chronic disease is a significant part of this genetic diversity, which also includes a variety of rare clear-cut inherited diseases. Modern DNA-based genomic analysis can now routinely lead to the identification of genes involved in disease susceptibility, provides the basis for genetic counselling in affected families, and more widely for a genetically targeted approach to disease prevention...

  10. Microtia: epidemiology and genetics.

    Science.gov (United States)

    Luquetti, Daniela V; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Cox, Timothy C

    2012-01-01

    Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.

  11. Medical genetics in Paraguay.

    Science.gov (United States)

    Ascurra de Duarte, Marta

    2004-01-01

    Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.

  12. Whakapapa, genealogy and genetics.

    Science.gov (United States)

    Evans, Donald

    2012-05-01

    This paper provides part of an analysis of the use of the Maori term whakapapa in a study designed to test the compatibility and commensurability of views of members of the indigenous culture of New Zealand with other views of genetic technologies extant in the country. It is concerned with the narrow sense of whakapapa as denoting biological ancestry, leaving the wider sense of whakapapa as denoting cultural identity for discussion elsewhere. The phenomenon of genetic curiosity is employed to facilitate this comparison. Four levels of curiosity are identified, in the Maori data, which penetrate more or less deeply into the psyche of individuals, affecting their health and wellbeing. These phenomena are compared with non-Maori experiences and considerable commonalities are discovered together with a point of marked difference. The results raise important questions for the ethical application of genetic technologies.

  13. Genetics of opiate addiction.

    Science.gov (United States)

    Reed, Brian; Butelman, Eduardo R; Yuferov, Vadim; Randesi, Matthew; Kreek, Mary Jeanne

    2014-11-01

    Addiction to MOP-r agonists such as heroin (and also addiction to prescription opioids) has reemerged as an epidemic in the twenty first century, causing massive morbidity. Understanding the genetics contributing to susceptibility to this disease is crucial for the identification of novel therapeutic targets, and also for discovery of genetic markers which would indicate relative protection or vulnerability from addiction, and relative responsiveness to pharmacotherapy. This information could thus eventually inform clinical practice. In this review, we focus primarily on association studies of heroin and opiate addiction, and further describe the studies which have been replicated in this field, and are thus more likely to be useful for translational efforts.

  14. Cartesian genetic programming

    CERN Document Server

    Miller, Julian F

    2011-01-01

    Cartesian Genetic Programming (CGP) is a highly effective and increasingly popular form of genetic programming. It represents programs in the form of directed graphs, and a particular characteristic is that it has a highly redundant genotype - phenotype mapping, in that genes can be noncoding. It has spawned a number of new forms, each improving on the efficiency, among them modular, or embedded, CGP, and self-modifying CGP. It has been applied to many problems in both computer science and applied sciences. This book contains chapters written by the leading figures in the development and appli

  15. Genetic craniofacial aberrations.

    Science.gov (United States)

    Pirinen, S

    1998-12-01

    Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

  16. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah;

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...... mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We...

  17. Genetics and caries: prospects

    Directory of Open Access Journals (Sweden)

    Alexandre Rezende Vieira

    2012-01-01

    Full Text Available Caries remains the most prevalent non-contagious infectious disease in humans. It is clear that the current approaches to decrease the prevalence of caries in human populations, including water fluoridation and school-based programs, are not enough to protect everyone. The scientific community has suggested the need for innovative work in a number of areas in cariology, encompassing disease etiology, epidemiology, definition, prevention, and treatment. We have pioneered the work on genetic studies to identify genes and genetic markers of diagnostic, prognostic, and therapeutic value. This paper summarizes a presentation that elaborated on these initial findings.

  18. Genetically engineered yeast

    DEFF Research Database (Denmark)

    2014-01-01

    A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate semialde......A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate...

  19. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

    Wang, Haina; Peng, Nan; Shah, Shiraz Ali

    2015-01-01

    SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spind......SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes...

  20. The genetics of the epilepsies.

    Science.gov (United States)

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

  1. Improved genetic operator for genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    林峰; 杨启文

    2002-01-01

    The mutation operator has been seldom improved because researchers ha rdly suspect its ability to prevent genetic algorithm (GA) from converging prema turely. Due to its i mportance to GA, the authors of this paper study its influence on the diversity of genes in the same locus, and point out that traditional mutation, to some ext ent, can result in premature convergence of genes (PCG) in the same locus. The a bove drawback of the traditional mutation operator causes the loss of critical a lleles. Inspired by digital technique, we introduce two kinds of boolean operati on into GA to develop a novel mutation operator and discuss its contribution to preventing the loss of critical alleles. The experimental results of function op timization show that the improved mutation operator can effectively prevent prem ature convergence, and can provide a wide selection range of control parameters for GA.

  2. Improved genetic operator for genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    林峰; 杨启文

    2002-01-01

    The mutation operator has been seldom improved because ressearchers hardly suspect its ability to prevent genetic algorithm(GA) from converging prematurely.Due to its importance to GA,the authors of this paper study influence on the diversity of genes in the same locus,and point out that traditional mutation,to some extent,can result in premature convergence of genes(PCG) in the same locus.The above drawback of the traditional mutation operator causes the loss of critical alleles.Inspired by digital technique,we introduce two kinds of boolean operation into GA to develop a novel mutation operator and discuss its contribution of preventing the loss of critical alleles.The experimental results of function optimizatioin show that the improved mutation operator can effectively prevent premature convegence,and can provide a wide selection range of control parameters for GA.

  3. Genetic influences on pulmonary function

    DEFF Research Database (Denmark)

    Ingebrigtsen, Truls S; Thomsen, Simon; van der Sluis, Sophie

    2011-01-01

    component sex-limitation models were applied to evaluate possible genetic differences between the sexes for FEV(1), FVC, and PEF. Estimates were adjusted for age, height, and smoking. For FEV(1), additive genetic effects of 61% (95% CI 56-65) were observed. For FVC, the additive genetic contribution was 26......% (3-49%) and the dominant genetic contribution was 29% (4-54%). For PEF, our models showed an additive genetic contribution of 43% (31-52%) for men, but genetic influences were not significant in women. We found no significant differences between dizygotic same-sex twins and dizygotic opposite...

  4. Genetically Engineering Entomopathogenic Fungi.

    Science.gov (United States)

    Zhao, H; Lovett, B; Fang, W

    2016-01-01

    Entomopathogenic fungi have been developed as environmentally friendly alternatives to chemical insecticides in biocontrol programs for agricultural pests and vectors of disease. However, mycoinsecticides currently have a small market share due to low virulence and inconsistencies in their performance. Genetic engineering has made it possible to significantly improve the virulence of fungi and their tolerance to adverse conditions. Virulence enhancement has been achieved by engineering fungi to express insect proteins and insecticidal proteins/peptides from insect predators and other insect pathogens, or by overexpressing the pathogen's own genes. Importantly, protein engineering can be used to mix and match functional domains from diverse genes sourced from entomopathogenic fungi and other organisms, producing insecticidal proteins with novel characteristics. Fungal tolerance to abiotic stresses, especially UV radiation, has been greatly improved by introducing into entomopathogens a photoreactivation system from an archaean and pigment synthesis pathways from nonentomopathogenic fungi. Conversely, gene knockout strategies have produced strains with reduced ecological fitness as recipients for genetic engineering to improve virulence; the resulting strains are hypervirulent, but will not persist in the environment. Coupled with their natural insect specificity, safety concerns can also be mitigated by using safe effector proteins with selection marker genes removed after transformation. With the increasing public concern over the continued use of synthetic chemical insecticides and growing public acceptance of genetically modified organisms, new types of biological insecticides produced by genetic engineering offer a range of environmentally friendly options for cost-effective control of insect pests.

  5. Genetics of osteoporosis

    NARCIS (Netherlands)

    S.H. Ralston (Stuart); A.G. Uitterlinden (André)

    2010-01-01

    textabstractOsteoporosis is a common disease with a strong genetic component characterized by reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of fragility fractures. Twin and family studies have shown high heritability of bone mineral density (BMD) and other

  6. Genetics of celiac disease

    NARCIS (Netherlands)

    Ricano-Ponce, Isis; Wijmenga, Cisca; Gutierrez-Achury, Javier

    2015-01-01

    New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci assoc

  7. Genetic Immunity to AIDS

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    In an article on genetic immunity to AIDS published in Science magazine, American and Chinese scientists claim to have discovered why certain HIV carriers do not develop full-blown AIDS. They say that the key to this conundrum lies in a particular protein in the endocrine system that inhibits development of HIV.

  8. Demonstration: Genetic Jewelry

    Science.gov (United States)

    Atkins, Thomas; Roderick, Joyce

    2006-01-01

    In order for students to understand genetics and evolution, they must first understand the structure of the DNA molecule. The function of DNA proceeds from its unique structure, a structure beautifully adapted for information storage, transcription, translation into amino acid sequences, replication, and time travel. The activity described in this…

  9. Intelligence, Race, and Genetics

    Science.gov (United States)

    Sternberg, Robert J.; Grigorenko, Elena L.; Kidd, Kenneth K.

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They…

  10. Genetic mechanisms of parenting.

    Science.gov (United States)

    Mileva-Seitz, Viara R; Bakermans-Kranenburg, Marian J; van IJzendoorn, Marinus H

    2016-01-01

    This article is part of a Special Issue "Parental Care". The complexities of parenting behavior in humans have been studied for decades. Only recently did we begin to probe the genetic and epigenetic mechanisms underlying these complexities. Much of the research in this field continues to be informed by animal studies, where genetic manipulations and invasive tools allow to peek into and directly observe the brain during the expression of maternal behavior. In humans, studies of adult twins who are parents can suggest dimensions of parenting that might be more amenable to a genetic influence. Candidate gene studies can test specific genes in association with parental behavior based on prior knowledge of those genes' function. Gene-by-environment interactions of a specific kind indicating differential susceptibility to the environment might explain why some parents are more resilient and others are more vulnerable to stressful life events. Epigenetic studies can provide the bridge often necessary to explain why some individuals behave differently from others despite common genetic influences. There is a much-needed expansion in parenting research to include not only mothers as the focus-as has been the case almost exclusively to date-but also fathers, grandparents, and other caregivers.

  11. Safe genetically engineered plants

    Science.gov (United States)

    Rosellini, D.; Veronesi, F.

    2007-10-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  12. Genetics and immunology: reinvigorated

    Science.gov (United States)

    Snyder, Alexandra; Makarov, Vladimir; Hellmann, Matthew; Rizvi, Naiyer; Merghoub, Taha; Wolchok, Jedd D; Chan, Timothy A

    2015-01-01

    Immune checkpoint blockade therapy is changing oncology by improving the outcome of patients with advanced malignancies. Our research has revealed the genetic features of tumors present in patients who initiate a successful antitumor immune response and derive clinical benefit from immune checkpoint blockade therapy versus non-responders. PMID:26451299

  13. Pregnancy, cardiomyopathies, and genetics

    NARCIS (Netherlands)

    Van Tintelen, J. Peter; Pieper, Petronella G.; Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.

    2014-01-01

    Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological mech

  14. Genetics of alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2014-01-01

    Multiple lines of evidence strongly indicate that genetic factors contribute to the risk for alcohol use disorders (AUD). There is substantial heterogeneity in AUD, which complicates studies seeking to identify specific genetic factors. To identify these genetic effects, several different alcohol-related phenotypes have been analyzed, including diagnosis and quantitative measures related to AUDs. Study designs have used candidate gene analyses, genetic linkage studies, genomewide association studies (GWAS), and analyses of rare variants. Two genes that encode enzymes of alcohol metabolism have the strongest effect on AUD: aldehyde dehydrogenase 2 and alcohol dehydrogenase 1B each has strongly protective variants that reduce risk, with odds ratios approximately 0.2-0.4. A number of other genes important in AUD have been identified and replicated, including GABRA2 and alcohol dehydrogenases 1B and 4. GWAS have identified additional candidates. Rare variants are likely also to play a role; studies of these are just beginning. A multifaceted approach to gene identification, targeting both rare and common variations and assembling much larger datasets for meta-analyses, is critical for identifying the key genes and pathways important in AUD.

  15. Paper Genetic Engineering.

    Science.gov (United States)

    MacClintic, Scott D.; Nelson, Genevieve M.

    Bacterial transformation is a commonly used technique in genetic engineering that involves transferring a gene of interest into a bacterial host so that the bacteria can be used to produce large quantities of the gene product. Although several kits are available for performing bacterial transformation in the classroom, students do not always…

  16. Genetic Algoritm Eclipse Mapping

    Science.gov (United States)

    Halevin, A. V.

    In this paper we analyse capabilities of eclipse mapping technique, based on genetic algorithm optimization. To model of accretion disk we used the "fire-flies" conception. This model allows us to reconstruct the distribution of radiating medium in the disk using less number of free parameters than in other methods. Test models show that we can achieve good approximation without optimizing techniques.

  17. Maize Genetic Resources

    Science.gov (United States)

    This chapter describes the resources held at the Maize Genetics Cooperation • Stock Center in detail and also provides some information about the North Central Regional Plant Introduction Station (NCRPIS) in Ames, IA, Centro Internacional de Mejoramiento de Maiz y Trigo (CIMMYT) in Mexico, and the N...

  18. Genetic Determinants of Depression

    NARCIS (Netherlands)

    S. López León (Sandra)

    2008-01-01

    textabstractThe aim of the studies in this genetic epidemiological thesis was to investigate candidate genes that play a role in the etiology of depression and to obtain new insights about biological pathways that may be involved in this disorder. The introduction of the thesis presents a review of

  19. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  20. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal dise

  1. Genetics of metabolic syndrome.

    Science.gov (United States)

    Stančáková, Alena; Laakso, Markku

    2014-12-01

    Metabolic syndrome (MetS) is a cluster of metabolic traits associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. Central obesity and insulin resistance are thought to play key roles in the pathogenesis of the MetS. The MetS has a significant genetic component, and therefore linkage analysis, candidate gene approach, and genome-wide association (GWA) studies have been applied in the search of gene variants for the MetS. A few variants have been identified, located mostly in or near genes regulating lipid metabolism. GWA studies for the individual components of the MetS have reported several loci having pleiotropic effects on multiple MetS-related traits. Genetic studies have provided so far only limited evidence for a common genetic background of the MetS. Epigenetic factors (DNA methylation and histone modification) are likely to play important roles in the pathogenesis of the MetS, and they might mediate the effects of environmental exposures on the risk of the MetS. Further research is needed to clarify the role of genetic variation and epigenetic mechanisms in the development of the MetS.

  2. Molecular genetics of ependymoma

    Institute of Scientific and Technical Information of China (English)

    Yuan Yao; Stephen C.Mack; Michael D.Taylor

    2011-01-01

    Brain tumors are the leading cause of cancer death in children,with ependymoma being the third most common and posing a significant clinical burden.Its mechanism of pathogenesis,reliable prognostic indicators,and effective treatments other than surgical resection have all remained elusive.Until recently,cytogenetic techniques,and lack of cell lines and animal models.Ependymoma heterogeneity,which manifests as variations in tumor location,patient age,histological grade,and clinical behavior,together with the observation of a balanced genomic profile in up to 50% of cases,presents additional challenges in understanding the development and progression of this disease.Despite these difficulties,we have made significant headway in the past decade in identifying the genetic alterations and pathways involved in ependymoma tumorigenesis through collaborative efforts and the application of microarray-based genetic (copy number) and transcriptome profiling platforms.Genetic characterization of ependymoma unraveled distinct mRNA-defined subclasses and led to the identification of radial glial cells as its cell type of origin.This review summarizes our current knowledge in the molecular genetics of ependymoma and proposesfuture research directions necessary to further advance this field.

  3. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  4. 'Take-away' foraging spatially uncouples predator and prey-attack distributions.

    Science.gov (United States)

    Smallegange, Isabel M; van der Meer, Jaap; Sabelis, Maurice W

    2010-07-01

    1. Ideal-free distribution theory assumes that in a patchy environment foragers maximize fitness and hence their feeding rate by balancing gains from more food against losses from more competition. Ultimately, individuals cannot increase their feeding rate by moving to another patch and they distribute themselves over patches in proportion to prey density per patch. 2. In our experiments with shore crabs Carcinus maenas foraging on two adjacent patches with mussels Mytilus edulis, the implicit assumption of ideal-free distribution theory that catch should match time spent in a prey patch is not met, however. Despite aggregating their attack where it is most profitable shore crabs distributed themselves homogeneously across mussel patches: they 'take away' the prey caught and consume it elsewhere to reduce interference. 3. Thus, predator distributions can be quite different from prey-attack distributions. This is important because the latter is shown to be decisive for persistence of predator and prey populations in ecological models.

  5. Temporal characterization of mercury accumulation at different trophic levels and implications for metal biomagnification along a coastal food web.

    Science.gov (United States)

    Cardoso, P G; Pereira, E; Duarte, A C; Azeiteiro, U M

    2014-10-15

    The main goal of this study was to assess temporal mercury variations along an estuarine food web to evaluate the mercury contamination level of the system and the risks that humans are exposed to, due to mercury biomagnification. The highest mercury concentrations in the sediments and primary producers (macrophytes) were observed during winter sampling. Instead, the highest mercury concentrations in the water, suspended particulate matter as well as in the zooplanktonic and suprabenthic communities were observed during summer sampling. Evidences of mercury biomagnification along the food web were corroborated by the positive biomagnification factors, particularly for omnivorous macrobenthic species. Comparing the mercury levels at distinct components with several environmental quality criteria it suggests that sediments, water and edible species (e.g., bivalve Scrobicularia plana and the crustacean Carcinus maenas) presented higher mercury levels than the values accepted by legislation which represent a matter of concern for the environment and human health.

  6. Immunochemical and immunocytochemical studies of the crustacean vitellogenesis-inhibiting hormone (VIH).

    Science.gov (United States)

    Meusy, J J; Martin, G; Soyez, D; van Deijnen, J E; Gallo, J M

    1987-09-01

    Immunochemical investigations, using dot immunobinding assay (DIA) and enzyme-linked immunosorbent assay (ELISA), and immunocytochemical studies reveal the following new information about crustacean vitellogenesis-inhibiting hormone (VIH): (1) The structure of VIH is sufficiently different from that of the other sinus gland neuropeptides to allow a selective recognition of VIH by polyclonal antibodies. (2) From immunochemical criteria, VIH does not seem strictly species specific. The antisera raised against VIH of Homarus americanus cross-react with sinus gland extracts of Palaemonetes varians, Palaemon serratus, Macrobrachium rosenbergii, Carcinus maenas, and Porcellio dilatatus. (3) In the sinus gland of H. americanus, VIH immunoreactivity is localized mainly in electron-dense granules of medium size (110-185 nm in diameter) while, in P. dilatatus, the labeling is mostly on the largest granules (200-270 nm in diameter).

  7. The crab Neohelice (= Chasmagnathus) granulata: an emergent animal model from emergent countries

    Science.gov (United States)

    Spivak, Eduardo D.

    2010-09-01

    Neohelice granulata (previously known as Chasmagnathus granulata and C. granulatus) is a burrowing semiterrestrial crab found in the intertidal zone of estuaries, salt marshes and mangroves of the South-western Atlantic Ocean. Beginning in the late 1989s, an explosion of publications appeared in international journals dealing with its ecology, physiology, toxicology and behavior. A bibliometric analysis using the Scopus database allowed detecting 309 papers that deal with this species during the period 1986-2009. The number of papers per year increased continuously, reaching a mean annual value of 22.6 during the last 5 years; a great majority of them were authored by researchers from Argentina and Brazil. Neohelice granulata has become now one of the most studied crab species, after Carcinus maenas, Callinectes sapidus, Scylla serrata and Cancer pagurus and C. magister, and it can be considered as an emergent animal model for biochemical, physiological and ecological research.

  8. Mechanism of a plastic phenotypic response: predator-induced shell thickening in the intertidal gastropod Littorina obtusata.

    Science.gov (United States)

    Brookes, J I; Rochette, Rémy

    2007-05-01

    Phenotypic plasticity has been the object of considerable interest over the past several decades, but in few cases are mechanisms underlying plastic responses well understood. For example, it is unclear whether predator-induced changes in gastropod shell morphology represent an active physiological response or a by-product of reduced feeding. We address this question by manipulating feeding and growth of intertidal snails, Littorina obtusata, using two approaches: (i) exposure to predation cues from green crabs Carcinus maenas and (ii) reduced food availability, and quantifying growth in shell length, shell mass, and body mass, as well as production of faecal material and shell micro-structural characteristics (mineralogy and organic fraction) after 96 days. We demonstrate that L. obtusata actively increases calcification rate in response to predation threat, and that this response entails energetic and developmental costs. That this induced response is not strictly tied to the animal's behaviour should enhance its evolutionary potential.

  9. Milky hemolymph syndrome (MHS) in spiny lobsters, penaeid shrimp and crabs.

    Science.gov (United States)

    Nunan, Linda M; Poulos, Bonnie T; Navarro, Solangel; Redman, Rita M; Lightner, Donald V

    2010-09-02

    Black tiger shrimp Penaeus monodon, European shore crab Carcinus maenas and spiny lobster Panulirus spp. can be affected by milky hemolymph syndrome (MHS). Four rickettsia-like bacteria (RLB) isolates of MHS originating from 5 geographical areas have been identified to date. The histopathology of the disease was characterized and a multiplex PCR assay was developed for detection of the 4 bacterial isolates. The 16S rRNA gene and 16-23S rRNA intergenic spacer region (ISR) were used to examine the phylogeny of the MHS isolates. Although the pathology of this disease appears similar in the various different hosts, sequencing and examination of the phylogenetic relationships reveal 4 distinct RLB involved in the infection process.

  10. The genetics of diabetes

    Directory of Open Access Journals (Sweden)

    Barjaktarović Nada

    2007-01-01

    Full Text Available Pathogenesis of diabetes is still a mystery for medicine, the real challenge currently being the identification of genetic factors and specific mutations that cause the disease. Heterogeneity of diabetes hampers research, only a few loci inside the human genome being correlated with predisposition for disease till now. Insulin-dependent diabetes - IDDM (T1DM develops through autoimmune destruction of pancreatic beta cells. HLA complex on the short arm of chromosome 6 (6p21, where very important genes responsible for immunological condition of the person are located, plays a very important role in genetic predisposition for T1DM. Beside this region, there are also other loci in the human genome (on chromosomes 1, 2 and 11 where a correlation with T1DM has been shown. Correlation between HLA systems and T1DM was first described for class I alleles, but recently attention has been drawn to class II loci which seem to be the cause of primary predisposition for T1DM. In the case of non-insulin-dependent diabetes - NIDDM (T2DM, the situation proved to be even more complex. Only a few genetic loci on chromosomes 11, 13 and 20 and MODY variant on chromosomes 7 and 12 have been identified by now. There are two theories about genetic basis of T2DM: the first stipulates that the genetic predisposition is determined through numerous loci, each individually responsible for a small part of predisposition; the second claims that there are a limited number of "major" genes probably functioning on a polygenic basis. Further research in this area is definitely needed to enable an accurate calculation of the risks of the disease and possible consequences during a lifetime of a person.

  11. Genetic professionals' views on genetic counsellors: a French survey.

    Science.gov (United States)

    Cordier, Christophe; Taris, Nicolas; Moldovan, Ramona; Sobol, Hagay; Voelckel, Marie-Antoinette

    2016-01-01

    The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions.

  12. Selected Readings in Genetic Engineering

    Science.gov (United States)

    Mertens, Thomas R.; Robinson, Sandra K.

    1973-01-01

    Describes different sources of readings for understanding issues and concepts of genetic engineering. Broad categories of reading materials are: concerns about genetic engineering; its background; procedures; and social, ethical and legal issues. References are listed. (PS)

  13. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Friedreich ataxia Friedreich ataxia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Friedreich ataxia is a genetic condition that affects the nervous ...

  14. Genetics Home Reference: allergic asthma

    Science.gov (United States)

    ... 1 link) American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...

  15. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions osteogenesis imperfecta osteogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Osteogenesis imperfecta (OI) is a group of genetic disorders that ...

  16. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... PubMed Nograles KE, Brasington RD, Bowcock AM. New insights into the pathogenesis and genetics of psoriatic arthritis. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  17. Genetics Home Reference: Meckel syndrome

    Science.gov (United States)

    ... genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions spondylocostal dysostosis spondylocostal dysostosis Enable ...

  19. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... Genetic Testing (1 link) Genetic Testing Registry: Familial hypokalemia-hypomagnesemia General Information from MedlinePlus (5 links) Diagnostic ... my area? Other Names for This Condition familial hypokalemia-hypomagnesemia Gitelman's syndrome GS hypokalemia-hypomagnesemia, primary renotubular, ...

  20. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Netherton syndrome Netherton syndrome Enable ...

  1. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions breast cancer breast cancer Enable ...

  2. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals, developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  3. Evolutionary Genetics: Reuse, Recycle, Converge.

    Science.gov (United States)

    Miller, Charles J J; Matute, Daniel R

    2016-09-26

    Our understanding of how genetic changes underlie the evolution of traits is growing fast. Two new studies now show that changes in the same genetic loci can drive the evolution of the same trait in multiple Drosophila species.

  4. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... genetic conditions more common in particular ethnic groups? Genetic Changes Researchers believe that variations in particular genes may increase the risk of myasthenia gravis , but the identity of these genes is unknown. Many factors likely ...

  5. Synthetic biology and genetic causation.

    Science.gov (United States)

    Oftedal, Gry; Parkkinen, Veli-Pekka

    2013-06-01

    Synthetic biology research is often described in terms of programming cells through the introduction of synthetic genes. Genetic material is seemingly attributed with a high level of causal responsibility. We discuss genetic causation in synthetic biology and distinguish three gene concepts differing in their assumptions of genetic control. We argue that synthetic biology generally employs a difference-making approach to establishing genetic causes, and that this approach does not commit to a specific notion of genetic program or genetic control. Still, we suggest that a strong program concept of genetic material can be used as a successful heuristic in certain areas of synthetic biology. Its application requires control of causal context, and may stand in need of a modular decomposition of the target system. We relate different modularity concepts to the discussion of genetic causation and point to possible advantages of and important limitations to seeking modularity in synthetic biology systems.

  6. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  7. Genetics, Disease Prevention and Treatment

    Science.gov (United States)

    ... the genetic terms used on this page Genetics, Disease Prevention and Treatment Overview How can learning about my family's health history help me prevent disease? How can I learn about my family's health ...

  8. Genetics Home Reference: Blau syndrome

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. The NOD2 gene ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  9. Foundations of genetic algorithms 1991

    CERN Document Server

    FOGA

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  10. Genetics and epigenetics of obesity

    OpenAIRE

    Blanca M Herrera; Keildson, Sarah; Lindgren, Cecilia M.

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  11. Moral Fantasy in Genetic Engineering.

    Science.gov (United States)

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  12. Stem cells and genetic diseases

    Directory of Open Access Journals (Sweden)

    Irshad S.

    2012-09-01

    Full Text Available In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tissues affected by a genetic mutation when stem cells without such mutation are transplanted to restore normal tissue function.

  13. Genetic analysis of environmental variation

    NARCIS (Netherlands)

    Hill, W.G.; Mulder, H.A.

    2010-01-01

    Environmental variation (VE) in a quantitative trait – variation in phenotype that cannot be explained by genetic variation or identifiable genetic differences – can be regarded as being under some degree of genetic control. Such variation may be either between repeated expressions of the same trait

  14. Genetic Transformation in Citrus

    Directory of Open Access Journals (Sweden)

    Dicle Donmez

    2013-01-01

    Full Text Available Citrus is one of the world’s important fruit crops. Recently, citrus molecular genetics and biotechnology work have been accelerated in the world. Genetic transformation, a biotechnological tool, allows the release of improved cultivars with desirable characteristics in a shorter period of time and therefore may be useful in citrus breeding programs. Citrus transformation has now been achieved in a number of laboratories by various methods. Agrobacterium tumefaciens is used mainly in citrus transformation studies. Particle bombardment, electroporation, A. rhizogenes, and a new method called RNA interference are used in citrus transformation studies in addition to A. tumefaciens. In this review, we illustrate how different gene transformation methods can be employed in different citrus species.

  15. Information, Genetics and Entropy

    Directory of Open Access Journals (Sweden)

    Julio Ernesto Rubio Barrios

    2015-04-01

    Full Text Available The consolidation of the informational paradigm in molecular biology research concluded on a system to convert the epistemic object into an operational technological object and a stable epistemic product. However, the acceptance of the informational properties of genetic acids failed to clarify the meaning of the concept of information. The “information”’ as a property of the genetic molecules remained as an informal notion that allows the description of the mechanism of inheritance, but it was not specified in a logic–semantic structure. The metaphorical implications associated with the idea of genes as molecules with meaning, questioned the linguistics that seemed too foreign to molecular biology. A reformulation of the concept of information in molecular biology was developed upon the theory of Claude Shannon. The node for the structural coupling between biology, physics and information theory was the identification of an analog structure between the coded messages of Shannon’s theory.

  16. Genetics of osteoporosis.

    Science.gov (United States)

    Jin, Huilin; Ralston, Stuart H

    2005-03-01

    Genetic factors play an important role in regulating bone mineral density and other phenotypes relevant to the pathogenesis of osteoporosis such as ultrasound properties of bone, skeletal geometry, and bone turnover. Progress has been made in identifying quantitative traits for regulation of bone mineral density by linkage studies in man and mouse, but relatively few causal genes have been identified. Dramatic progress has been made in identifying the genes responsible for monogenic bone diseases and it appears that polymorphisms in many of these genes also play a role in regulating bone mineral density in the general population. Advances in knowledge about the genetic basis of osteoporosis and other bone diseases offer the prospect of developing new markers for assessment of fracture risk and the identification of novel molecular targets for the design of new drug treatments for osteoporosis.

  17. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  18. Chemical genetics and regeneration.

    Science.gov (United States)

    Sengupta, Sumitra; Zhang, Liyun; Mumm, Jeff S

    2015-01-01

    Regeneration involves interactions between multiple signaling pathways acting in a spatially and temporally complex manner. As signaling pathways are highly conserved, understanding how regeneration is controlled in animal models exhibiting robust regenerative capacities should aid efforts to stimulate repair in humans. One way to discover molecular regulators of regeneration is to alter gene/protein function and quantify effect(s) on the regenerative process: dedifferentiation/reprograming, stem/progenitor proliferation, migration/remodeling, progenitor cell differentiation and resolution. A powerful approach for applying this strategy to regenerative biology is chemical genetics, the use of small-molecule modulators of specific targets or signaling pathways. Here, we review advances that have been made using chemical genetics for hypothesis-focused and discovery-driven studies aimed at furthering understanding of how regeneration is controlled.

  19. "Genetically Engineered" Nanoelectronics

    Science.gov (United States)

    Klimeck, Gerhard; Salazar-Lazaro, Carlos H.; Stoica, Adrian; Cwik, Thomas

    2000-01-01

    The quantum mechanical functionality of nanoelectronic devices such as resonant tunneling diodes (RTDs), quantum well infrared-photodetectors (QWIPs), quantum well lasers, and heterostructure field effect transistors (HFETs) is enabled by material variations on an atomic scale. The design and optimization of such devices requires a fundamental understanding of electron transport in such dimensions. The Nanoelectronic Modeling Tool (NEMO) is a general-purpose quantum device design and analysis tool based on a fundamental non-equilibrium electron transport theory. NEW was combined with a parallelized genetic algorithm package (PGAPACK) to evolve structural and material parameters to match a desired set of experimental data. A numerical experiment that evolves structural variations such as layer widths and doping concentrations is performed to analyze an experimental current voltage characteristic. The genetic algorithm is found to drive the NEMO simulation parameters close to the experimentally prescribed layer thicknesses and doping profiles. With such a quantitative agreement between theory and experiment design synthesis can be performed.

  20. The expanded genetic alphabet.

    Science.gov (United States)

    Malyshev, Denis A; Romesberg, Floyd E

    2015-10-05

    All biological information, since the last common ancestor of all life on Earth, has been encoded by a genetic alphabet consisting of only four nucleotides that form two base pairs. Long-standing efforts to develop two synthetic nucleotides that form a third, unnatural base pair (UBP) have recently yielded three promising candidates, one based on alternative hydrogen bonding, and two based on hydrophobic and packing forces. All three of these UBPs are replicated and transcribed with remarkable efficiency and fidelity, and the latter two thus demonstrate that hydrogen bonding is not unique in its ability to underlie the storage and retrieval of genetic information. This Review highlights these recent developments as well as the applications enabled by the UBPs, including the expansion of the evolution process to include new functionality and the creation of semi-synthetic life that stores increased information.

  1. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  2. GENETICS OF SPINOCEREBELLAR ATAXIAS

    OpenAIRE

    Hirano, Makito; Ueno, Satoshi

    2004-01-01

    Over the last decade, more than 25 genes responsible for spinocerebellar ataxias (SCAs) have been isolated. This review classifies hereditary SCAs into two groups: autosomal dominant and recessive ataxias, and sunmiarizes the genetic features of these diseases with some clinical characteristics. The unraveling of the molecular cause of a growing number of ataxia has revealed that these diseases are the consequences of a large variety of different mechanisms, even involving novel, unsuspected ...

  3. Genetics and alcoholism

    OpenAIRE

    Edenberg, Howard J; Foroud, Tatiana

    2013-01-01

    Alcohol is widely consumed, but excessive use creates serious physical, psychological and social problems and contributes to many diseases. Alcoholism (alcohol dependence, alcohol use disorders) is a maladaptive pattern of excessive drinking leading to serious problems. Abundant evidence indicates that alcoholism is a complex genetic disease, with variations in a large number of genes affecting risk. Some of these genes have been identified, including two genes of alcohol me...

  4. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  5. Genetics of complex diseases.

    Science.gov (United States)

    Motulsky, Arno G

    2006-02-01

    Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.

  6. Molecular Genetics in Glaucoma

    OpenAIRE

    Liu, Yutao; Allingham, R Rand

    2011-01-01

    Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to gl...

  7. Genetic manipulation in biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Sherwood, R.; Atkinson, T.

    1981-04-04

    The role of genetic manipulation in opening up new possibilities in biotechnology is discussed and the basic steps in a recombinant DNA experiment are summarized. Some current and future applications of this technology in the fields of medicine, industry and agriculture are presented, including, conversion of wastes to SCP, chemicals and alcohols, plant improvement and the introduction of nitrogen fixation genes into plants as an alternative to the use of nitrogen fertilizers.

  8. Pig ham genetic traceability

    Directory of Open Access Journals (Sweden)

    S. Dall'Olio

    2011-03-01

    Full Text Available Knowing meat product origin is an important factor to assure consumer safety. A definitive method to solve this question is to identify, through molecular genetics analysis, a sample collected from the alive animal and a sample collected on the processed product. The only way to assure the origin of meat and meat products is by the proved identity of both genotypes for each different analyzed loci. Identity test was utilized to achieve individual traceability of meat for cattle......

  9. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno

    2001-06-01

    Full Text Available Recent reports have brought to public attention concerns about Bt corn and genetically modified organisms (GMO in general. The timing, it seems, is most appropriate considering two related developments early this year: the final approval of the Cartagena Protocol on Biosafety in Montreal on January 29, 2001, and the OECD Edinburgh Conference on GM food safety last February 28- March 1, 2001. The protocol makes clear that GMOs include all living modified organisms (LMO defined as "any living organism that possesses a novel combination of genetic material obtained through the use of modern biotechnology". This includes seeds, live fish, and other organisms intentionally obtained for release to the environment. It would seem that the common understanding about GMOs as referring to farm-to-table products is perforce expanded to embrace genetically modified farm animals and aquatic resources. Being a trade agreement, the Montreal accord primarily deals with the safety issues related to the transboundary movement of LMOs around the globe. The OECD conference on the other hand, called for an international body "to address all sides of the GM debate" in response to the public outcry, particularly in Western Europe, regarding the risks the new products pose to human health and the environment. Some points of contention, which remain unresolved, include issues such as whether countries should be allowed to develop their own GM food based on their needs, and whether a global moratorium on GMOs and mandatory labeling should be enforced worldwide.

  10. Genetic Manipulations in Dermatophytes.

    Science.gov (United States)

    Alshahni, Mohamed Mahdi; Yamada, Tsuyoshi

    2017-02-01

    Dermatophytes are a group of closely related fungi that nourish on keratinized materials for their survival. They infect stratum corneum, nails, and hair of human and animals, accounting the largest portion of fungi causing superficial mycoses. Huge populations are suffering from dermatophytoses, though the biology of these fungi is largely unknown yet. Reasons are partially attributed to the poor amenability of dermatophytes to genetic manipulation. However, advancements in this field over the last decade made it possible to conduct genetic studies to satisfying extents. These included genetic transformation methods, indispensable molecular tools, i.e., dominant selectable markers, inducible promoter, and marker recycling system, along with improving homologous recombination frequency and gene silencing. Furthermore, annotated genome sequences of several dermatophytic species have recently been available, ensuring an optimal recruitment of the molecular tools to expand our knowledge on these fungi. In conclusion, the establishment of basic molecular tools and the availability of genomic data will open a new era that might change our understanding on the biology and pathogenicity of this fungal group.

  11. Algebras in genetics

    CERN Document Server

    Wörz-Busekros, Angelika

    1980-01-01

    The purpose of these notes is to give a rather complete presentation of the mathematical theory of algebras in genetics and to discuss in detail many applications to concrete genetic situations. Historically, the subject has its origin in several papers of Etherington in 1939- 1941. Fundamental contributions have been given by Schafer, Gonshor, Holgate, Reiers¢l, Heuch, and Abraham. At the moment there exist about forty papers in this field, one survey article by Monique Bertrand from 1966 based on four papers of Etherington, a paper by Schafer and Gonshor's first paper. Furthermore Ballonoff in the third section of his book "Genetics and Social Structure" has included four papers by Etherington and Reiers¢l's paper. Apparently a complete review, in par­ ticular one comprising more recent results was lacking, and it was difficult for students to enter this field of research. I started to write these notes in spring 1978. A first german version was finished at the end of that year. Further revision and tran...

  12. Genetic Alterations in Glioma

    Energy Technology Data Exchange (ETDEWEB)

    Bralten, Linda B. C.; French, Pim J., E-mail: p.french@erasmusmc.nl [Department of Neurology, Erasmus University Medical Center, Erasmus University Rotterdam, Dr Molewaterplein 50, 3000 CA, Rotterdam (Netherlands)

    2011-03-07

    Gliomas are the most common type of primary brain tumor and have a dismal prognosis. Understanding the genetic alterations that drive glioma formation and progression may help improve patient prognosis by identification of novel treatment targets. Recently, two major studies have performed in-depth mutation analysis of glioblastomas (the most common and aggressive subtype of glioma). This systematic approach revealed three major pathways that are affected in glioblastomas: The receptor tyrosine kinase signaling pathway, the TP53 pathway and the pRB pathway. Apart from frequent mutations in the IDH1/2 gene, much less is known about the causal genetic changes of grade II and III (anaplastic) gliomas. Exceptions include TP53 mutations and fusion genes involving the BRAF gene in astrocytic and pilocytic glioma subtypes, respectively. In this review, we provide an update on all common events involved in the initiation and/or progression across the different subtypes of glioma and provide future directions for research into the genetic changes.

  13. Genetics of Congenital Cataract.

    Science.gov (United States)

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  14. Genetic bases for glaucoma.

    Science.gov (United States)

    Fuse, Nobuo

    2010-05-01

    Glaucoma is the leading cause of visual impairment and blindness throughout the world. Primary open angle glaucoma (POAG; MIM 137760) is the main type of glaucoma in most populations, and more than 20 genetic loci for POAG have been reported. Only three causative genes have been identified in these loci, viz. myocilin (MYOC), optineurin (OPTN), and WD repeat domain 36 (WDR36). However, mutations in these genes account for only a small percentage of the patients with POAG. Some of these glaucoma cases have a Mendelian inheritance pattern, and a considerable fraction of the cases result from a large number of variants in several genes each contributing small effects. Glaucoma is considered to be a common disease such as diabetes mellitus, coronary disease, Crohn disease, and several( )common cancers. The main technological approaches used to identify the genes associated with glaucoma are the candidate gene approach, linkage analysis, case-control association study, and genome-wide association study. Association studies have found about 27 genes related to POAG, but the glaucoma-causing effects of these genes need to be investigated in more detail. The current trend is to use case-control association studies or genome-wide association studies to map the genes associated with glaucoma. Such studies are expected to greatly advance our understanding of the genetic basis of glaucoma, and to provide information on the effectiveness of glaucoma therapy. This review gives an overview on the genetic aspects of glaucoma.

  15. Genetics of osteoporosis

    Energy Technology Data Exchange (ETDEWEB)

    Urano, Tomohiko [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Inoue, Satoshi, E-mail: INOUE-GER@h.u-tokyo.ac.jp [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama (Japan)

    2014-09-19

    Highlights: • Single-nucleotide polymorphisms (SNPs) associated with osteoporosis were identified. • SNPs mapped close to or within VDR and ESR1 are associated with bone mineral density. • WNT signaling pathway plays a pivotal role in regulating bone mineral density. • Genetic studies will be useful for identification of new therapeutic targets. - Abstract: Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50–90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.

  16. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the Netherlands

  17. Genetic influence on prolonged gestation

    DEFF Research Database (Denmark)

    Laursen, Maja; Bille, Camilla; Olesen, Annette Wind;

    2004-01-01

    OBJECTIVE: The purpose of this study was to test a possible genetic component to prolonged gestation. STUDY DESIGN: The gestational duration of single, first pregnancies by both female and male twins was obtained by linking the Danish Twin Registry, The Danish Civil Registration System...... twin pairs, which indicates genetic effects. Biometric modeling suggested that genetic factors account for 23% to 30% of the liability to prolonged gestation. The difference in concordance rate between monozygotic and dizygotic male twin pairs was small, and the best fitting model indicated no genetic...... factors. CONCLUSION: Maternal genes influence prolonged gestation. However, a substantial paternal genetic influence through the fetus was not found....

  18. Clinical Genetic Testing in Gastroenterology

    Science.gov (United States)

    Goodman, Russell P; Chung, Daniel C

    2016-01-01

    Rapid advances in genetics have led to an increased understanding of the genetic determinants of human disease, including many gastrointestinal (GI) disorders. Coupled with a proliferation of genetic testing services, this has resulted in a clinical landscape where commercially available genetic tests for GI disorders are now widely available. In this review, we discuss the current status of clinical genetic testing for GI illnesses, review the available testing options, and briefly discuss indications for and practical aspects of such testing. Our goal is to familiarize the practicing gastroenterologist with this rapidly changing and important aspect of clinical care. PMID:27124700

  19. The synthesis paradigm in genetics.

    Science.gov (United States)

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  20. Genetic Algorithms and Local Search

    Science.gov (United States)

    Whitley, Darrell

    1996-01-01

    The first part of this presentation is a tutorial level introduction to the principles of genetic search and models of simple genetic algorithms. The second half covers the combination of genetic algorithms with local search methods to produce hybrid genetic algorithms. Hybrid algorithms can be modeled within the existing theoretical framework developed for simple genetic algorithms. An application of a hybrid to geometric model matching is given. The hybrid algorithm yields results that improve on the current state-of-the-art for this problem.

  1. What Are the Types of Genetic Tests?

    Science.gov (United States)

    ... paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which outlines ... at the Univeristy of Utah. Topics in the Genetic Testing chapter What is genetic testing? What are the ...

  2. Genetic Aspects of Nephrotic Syndrome

    DEFF Research Database (Denmark)

    Joshi, Shivani

    SSNS. In Study IV we performed a literature study on published disease causing variants in SRNS and based upon available evidence we developed a practical diagnostic algorithm for genetic evaluation of patients with SRNS. Several gene variants are involved in the pathogenesis of SRNS and genetic...... steroid dependence or become frequent relapsers. Repeated courses of corticosteroid treatment often cause significant associated morbidity. Familial occurrence of SSNS is rare and suggests a potential genetic origin. However, very little data on molecular genetics of familial SSNS is available...... in literature and no causal genes have yet been identified. Genetic aspects of NS bear important implications in therapeutic decisions and genetic counselling in SRNS patients and family members. During the present Ph.D. project we have studied the influence of genetic factors in patients with SRNS and familial...

  3. Integration of molecular genetic technology with quantitative genetic technology for maximizing the speed of genetic improvement

    Institute of Scientific and Technical Information of China (English)

    Jack; C.M.; DEKKERS

    2005-01-01

    To date,most genetic progress for quantita-tive traits in livestock has been made by selec-tion on phenotype or on estimates of breedingvalues(BBV)derived from phenotype,withoutknowledge of the number of genes that affect thetrait or the effects of each gene.In this quantita-tive genetic approach to genetic improvement,the genetic architecture of traits of interest hasessentially been treated as a‘black box’.De-spite this,the substantial rates of genetic im-provement that have been and continue to be a-chie...

  4. A comprehensive review of genetics and genetic testing in azoospermia

    Directory of Open Access Journals (Sweden)

    Alaa J. Hamada

    2013-01-01

    Full Text Available Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

  5. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  6. Genetic elements of plant viruses as tools for genetic engineering.

    OpenAIRE

    Mushegian, A R; Shepherd, R J

    1995-01-01

    Viruses have developed successful strategies for propagation at the expense of their host cells. Efficient gene expression, genome multiplication, and invasion of the host are enabled by virus-encoded genetic elements, many of which are well characterized. Sequences derived from plant DNA and RNA viruses can be used to control expression of other genes in vivo. The main groups of plant virus genetic elements useful in genetic engineering are reviewed, including the signals for DNA-dependent a...

  7. [Genetics of congenital deafness].

    Science.gov (United States)

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  8. [Genetics of hydatidiform moles].

    Science.gov (United States)

    Brackertz, M

    1983-07-01

    Newer genetic investigations show that the complete or classical hydatidiform mole has in over 90% of the cases a diploid female set of chromosomes which is exclusively of paternal origin. The 23 X sperm genom is doubled and the nucleus of the ovocyte is degenerated. In contradistinction the nucleus of the ovocyte persists in partial moles. The normal ontogenesis is also disturbed by a preponderance of paternal genetic material. By melting of 2 instead of 1 paternal germ cell (Dispermia) the genom of partial moles is to 1/3 of maternal and to 2/3 of paternal origin. The triploid set of chromosomes shows usually 69xxy. Whereas the potential of malignancy of partial moles is low a choriocarcinoma results from 2 to 10% of the complete moles. Responsible maybe recessive hereditary mutations of growth controlling genes, which are present in complete moles in a homozygote form due to the doubling of a single paternal set of chromosomes. Total absence of the growth controlling loci of these genes maternally permits an unhibited expression of the growth controlling paternal genes.

  9. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto

    2010-11-01

    Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

  10. Genetics and plant development.

    Science.gov (United States)

    Prunet, Nathanaël; Meyerowitz, Elliot M

    2016-01-01

    There are only three grand theories in biology: the theory of the cell, the theory of the gene, and the theory of evolution. Two of these, the cell and gene theories, originated in the study of plants, with the third resulting in part from botanical considerations as well. Mendel's elucidation of the rules of inheritance was a result of his experiments on peas. The rediscovery of Mendel's work in 1900 was by the botanists de Vries, Correns, and Tschermak. It was only in subsequent years that animals were also shown to have segregation of genetic elements in the exact same manner as had been shown in plants. The story of developmental biology is different - while the development of plants has long been studied, the experimental and genetic approaches to developmental mechanism were developed via experiments on animals, and the importance of genes in development (e.g., Waddington, 1940) and their use for understanding developmental mechanisms came to botanical science much later - as late as the 1980s.

  11. Molecular genetics of cataract.

    Directory of Open Access Journals (Sweden)

    Kannabiran Chitra

    2000-01-01

    Full Text Available Studies on hereditary congenital cataracts have led to the identification of genes involved in formation of these cataracts. Knowledge of the structure and function of a particular gene and the effect of disease-associated mutations on its function are providing insights into the mechanisms of cataract. Identification of the disease gene requires both the relevant clinical data as well as genetic data on the entire pedigree in which the disease is found to occur. Genes for hereditary cataract have been mapped by genetic linkage analysis, in which one examines the inheritance pattern of DNA markers throughout the genome in all individuals of the pedigree, and compares those with the inheritance of the disease. Cosegregation of a set of markers with disease implies that the disease gene is present at the same chromosomal location as those markers. The genes so far identified for hereditary cataracts in both humans and animal models encode structural lens proteins, gap junction proteins, membrane proteins and regulatory proteins involved in lens development. Understanding of the mechanisms of hereditary cataract may also help us understand the manner in which environmental and nutritional factors act on the lens to promote opacification.

  12. Behaviour Genetics of Pigs

    Directory of Open Access Journals (Sweden)

    Kristina Budimir

    2013-09-01

    Full Text Available The behavior of pigs can be divided into several categories, which include maternal behavior, aggressive behavior, sexual behavior, feeding behavior, and various other forms of emotional behavior. Domestication has caused many changes in the original behaviour of boar, such as in reproductive and sexual behaviour, and has lead to a general increase in social tolerance between animals. Further modifications in behaviour are also possible, as suggested by the optimization of environmental factors which affect maternal behavior. The behaviour of a sow after farrowing appeared as a consequence of natural selection for protection of piglets from predators in the wild boar population, and affects the survival of piglets and the longevity of the sow in breeding. The behavior of the sows which includes the protection of the piglets from predators appears as a consequence of natural selection in the wild boar population. Familiarity with the molecular mechanisms which determine the patterns of behavior enables understanding of behavioral problems such as aggressiveness and helps the improvement of the well-being of pigs. Research conducted on pigs has determined that there are regions on chromosomes 2, 6, 10, 14, and 15, and chromosome X which can explain the genetic aspect of appearance of some behavioral patterns in sows. The goal of this paper is to illustrate the behavioral patterns appeared in the populations of domestic breeds of pigs and their genetic aspects, which knowledge may provide some help in improving the production qualities and creating higher economic gain during production.

  13. Genetic circuit design automation.

    Science.gov (United States)

    Nielsen, Alec A K; Der, Bryan S; Shin, Jonghyeon; Vaidyanathan, Prashant; Paralanov, Vanya; Strychalski, Elizabeth A; Ross, David; Densmore, Douglas; Voigt, Christopher A

    2016-04-01

    Computation can be performed in living cells by DNA-encoded circuits that process sensory information and control biological functions. Their construction is time-intensive, requiring manual part assembly and balancing of regulator expression. We describe a design environment, Cello, in which a user writes Verilog code that is automatically transformed into a DNA sequence. Algorithms build a circuit diagram, assign and connect gates, and simulate performance. Reliable circuit design requires the insulation of gates from genetic context, so that they function identically when used in different circuits. We used Cello to design 60 circuits forEscherichia coli(880,000 base pairs of DNA), for which each DNA sequence was built as predicted by the software with no additional tuning. Of these, 45 circuits performed correctly in every output state (up to 10 regulators and 55 parts), and across all circuits 92% of the output states functioned as predicted. Design automation simplifies the incorporation of genetic circuits into biotechnology projects that require decision-making, control, sensing, or spatial organization.

  14. Genetic manipulation of Francisella tularensis

    Directory of Open Access Journals (Sweden)

    Xhavit eZogaj

    2011-01-01

    Full Text Available Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a select A agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis.

  15. Genetic biomarkers in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Coats, Caroline J; Elliott, Perry M

    2013-08-01

    Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.

  16. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  17. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels

    2015-01-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where...... published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator...

  18. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.

    2003-01-01

    This paper introduces graphical models as a natural environment in which to formulate and solve problems in genetics and related areas. Particular emphasis is given to the relationships among various local computation algorithms which have been developed within the hitherto mostly separate areas...... of graphical models and genetics. The potential of graphical models is explored and illustrated through a number of example applications where the genetic element is substantial or dominating....

  19. [The genetics of spinocerebellar ataxias].

    Science.gov (United States)

    Jacobi, H; Minnerop, M; Klockgether, T

    2013-02-01

    Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28. Genetic causes range from coding repeat expansions (polyglutamine diseases), to non-coding expansions as well as conventional mutations. In some subtypes the genetic background is currently unknown. Age of onset, typical clinical findings and geographic distribution may help to reach a correct diagnosis; however a definitive diagnosis requires molecular genetic testing.

  20. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Acute Pancreatitis Encyclopedia: Chronic Pancreatitis Health Topic: Pancreatitis Genetic and Rare Diseases Information ...

  1. Genetics of obesity.

    Science.gov (United States)

    Clement, Karine; Boutin, Philippe; Froguel, Philippe

    2002-01-01

    Obesity is a typical common multifactorial disease in which environmental and genetic factors interact. In rare cases of severe obesity with childhood onset, a single gene has a major effect in determining the occurrence of obesity, with the environment having only a permissive role in the severity of the phenotype. Exceptional mutations of the leptin gene and its receptor, pro-opiomelanocortine (POMC), prohormone convertase 1 (PC1) and more frequently, mutations in the melanocortin receptor 4 (1 to 4% of very obese cases) have been described. All these obesity genes encode proteins that are strongly connected as part of the same loop of the regulation of food intake. They all involve the leptin axis and one of its hypothalamic targets; the melanocortin pathway. Pathways of bodyweight regulation involved in monogenic forms of obesity might represent targets for future drug development. Successful leptin protein replacement in a leptin-deficient child has contributed to the validation of the usefulness of gene screening in humans. However, the individual variability in response to leptin treatment might be related to genetic variability. The efficiency of leptin itself or of small-molecule agonists of the leptin receptor should be studied in relation with genetic variations in the leptin gene promoter. The most common forms of obesity are polygenic. Two general approaches have been used to date in the search for genes underlying common polygenic obesity in humans. The first approach focuses on selected genes having some plausible role in obesity on the basis of their known or presumed biological role. This approach yielded putative susceptibility genes with only small or uncertain effects. The second approach attempts to map genes purely by position and requires no presumptions on the function of genes. Genome-wide scans identify chromosomal regions showing linkage with obesity in large collections of nuclear families. Genome-wide scans in different ethnic

  2. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  3. Acute Myeloid Leukemia - Genetics Home Reference [Genetics Home Reference (Conditions)

    Lifescience Database Archive (English)

    Full Text Available Conditions Genes Chromosomes Handbook Glossary Resources Conditions > Acute Myeloid...te myeloid leukemia with mutated CEBPA Fanconi anemia You may also search Genetics Home Reference for Acut...e Myeloid Leukemia for additional information. Published : October 27, 2014 Acute Myeloid Leukemia - Genetics Home Reference ...

  4. Introduction to genetics and genomics in asthma: genetics of asthma.

    Science.gov (United States)

    Mathias, Rasika Ann

    2014-01-01

    While asthma is a heterogeneous disease, a strong genetic basis has been firmly established. Rather than being a single disease entity, asthma consists of related, overlapping syndromes [Barnes (Proc Am Thor Soc 8:143-148, 2011)] including three general domains: variable airway obstruction, airway hyper-responsiveness, and airway inflammation with a considerable proportion, but not all, of asthma being IgE-mediated further adding to its heterogeneity. This chapter reviews the approaches to the elucidation of genetics of asthma from the early evidence of familial clustering to the current state of knowledge with genome-wide approaches. The conclusion is that research efforts have led to a tremendous repository of genetic determinants of asthma, most of which fall into the above phenotypic domains of the syndrome. We now look to future integrative approaches of genetics, genomics (Chap. 10), and epigenetics (Chap. 11) to better understand the causal mechanism through which, these genetic loci act in manifesting asthma.

  5. Genetically modified bacteriophages.

    Science.gov (United States)

    Sagona, Antonia P; Grigonyte, Aurelija M; MacDonald, Paul R; Jaramillo, Alfonso

    2016-04-18

    Phages or bacteriophages, viruses that infect and replicate inside bacteria, are the most abundant microorganisms on earth. The realization that antibiotic resistance poses a substantial risk to the world's health and global economy is revitalizing phage therapy as a potential solution. The increasing ease by which phage genomes can be modified, owing to the influx of new technologies, has led to an expansion of their natural capabilities, and a reduced dependence on phage isolation from environmental sources. This review will discuss the way synthetic biology has accelerated the construction of genetically modified phages and will describe the wide range of their applications. It will further provide insight into the societal and economic benefits that derive from the use of recombinant phages in various sectors, from health to biodetection, biocontrol and the food industry.

  6. Genetic algorithm essentials

    CERN Document Server

    Kramer, Oliver

    2017-01-01

    This book introduces readers to genetic algorithms (GAs) with an emphasis on making the concepts, algorithms, and applications discussed as easy to understand as possible. Further, it avoids a great deal of formalisms and thus opens the subject to a broader audience in comparison to manuscripts overloaded by notations and equations. The book is divided into three parts, the first of which provides an introduction to GAs, starting with basic concepts like evolutionary operators and continuing with an overview of strategies for tuning and controlling parameters. In turn, the second part focuses on solution space variants like multimodal, constrained, and multi-objective solution spaces. Lastly, the third part briefly introduces theoretical tools for GAs, the intersections and hybridizations with machine learning, and highlights selected promising applications.

  7. Genetics of Childhood Obesity

    Directory of Open Access Journals (Sweden)

    Jianhua Zhao

    2011-01-01

    Full Text Available Obesity is a major health problem and an immense economic burden on the health care systems both in the United States and the rest of the world. The prevalence of obesity in children and adults in the United States has increased dramatically over the past decade. Besides environmental factors, genetic factors are known to play an important role in the pathogenesis of obesity. Genome-wide association studies (GWAS have revealed strongly associated genomic variants associated with most common disorders; indeed there is general consensus on these findings from generally positive replication outcomes by independent groups. To date, there have been only a few GWAS-related reports for childhood obesity specifically, with studies primarily uncovering loci in the adult setting instead. It is clear that a number of loci previously reported from GWAS analyses of adult BMI and/or obesity also play a role in childhood obesity.

  8. Genetics of Melanoma

    Directory of Open Access Journals (Sweden)

    Janet eWangari-Talbot

    2013-01-01

    Full Text Available Genomic variation is a trend observed in various human diseases including cancer. Genetic studies have set out to understand how and why these variations result in cancer, why some populations are predisposed to the disease, and also how genetics affect drug responses. The melanoma incidence has been increasing at an alarming rate worldwide. The burden posed by melanoma has made it a necessity to understand the fundamental signaling pathways involved in this deadly disease. Signaling cascades such as MAPK and PI3K/AKT have been shown to be crucial in the regulation of processes that are commonly dysregulated during cancer development such as aberrant proliferation, loss of cell cycle control, impaired apoptosis and altered drug metabolism. Understanding how these and other oncogenic pathways are regulated has been integral in our challenge to develop potent anti-melanoma drugs. With advances in technology and especially in next generation sequencing, we have been able to explore melanoma genomes and exomes leading to the identification of previously unknown genes with functions in melanomagenesis such as GRIN2A and PREX2. The therapeutic potential of these novel candidate genes is actively being pursued with some presenting as druggable targets while others serve as indicators of therapeutic responses. In addition, the analysis of the mutational signatures of melanoma tumors continues to cement the causative role of UV exposure in melanoma pathogenesis. It has become distinctly clear that melanomas from sun exposed skin areas have distinct mutational signatures including C to T transitions indicative of UV-induced damage. It is thus necessary to continue spreading awareness on how to decrease the risk factors of developing the disease while at the same time working for a cure. Given the large amount of information gained from these sequencing studies, it is likely that in the future, treatment of melanoma will follow a highly personalized route

  9. Genetics of autoimmune diseases: insights from population genetics.

    Science.gov (United States)

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-11-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine.

  10. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  11. Genetics in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Albers, Heleen Marion

    2015-01-01

    Juvenile idiopathic arthritis (JIA) is a non-common disease in children that can persist into adulthood. JIA is considered to be an auto-immune disease. Genetic factors play a role in the pathogenesis. In a new cohort of JIA patients from North-West European descent genetic candidate gene associatio

  12. Medical Genetics Is Not Eugenics

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  13. Next-generation human genetics

    OpenAIRE

    Shendure, Jay

    2011-01-01

    The field of human genetics is being reshaped by exome and genome sequencing. Several lessons are evident from observing the rapid development of this area over the past 2 years, and these may be instructive with respect to what we should expect from 'next-generation human genetics' in the next few years.

  14. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  15. Genetic basis of chronic pancreatitis

    NARCIS (Netherlands)

    Jansen, JBMJ; Morsche, RT; van Goor, Harry; Drenth, JPH

    2002-01-01

    Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of the literature on genetics of pancreatitis. Results: Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was foun

  16. Combining microarrays and genetic analysis

    NARCIS (Netherlands)

    Alberts, Rudi; Fu, Jingyuan; Swertz, Morris A.; Lubbers, L. Alrik; Albers, Casper J.; Jansen, Ritsert C.

    2005-01-01

    Gene expression can be studied at a genome-wide scale with the aid of modern microarray technologies. Expression profiling of tens to hundreds of individuals in a genetic population can reveal the consequences of genetic variation. In this paper it is argued that the design and analysis of such a st

  17. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  18. Classical and molecular genetic mapping

    Science.gov (United States)

    A brief history of classical genetic mapping in soybean [Glycine max (L.) Merr.] is described. Detailed descriptions are given of the development of molecular genetic linkage maps based upon various types of DNA markers Like many plant and animal species, the first molecular map of soybean was bas...

  19. Genetic Mapping in Human Disease

    OpenAIRE

    Altshuler, David; Daly, Mark J; Lander, Eric S.

    2008-01-01

    Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.

  20. You're a What? Genetic Counselor

    Science.gov (United States)

    Mullins, John

    2011-01-01

    When it first emerged about 50 years ago, genetic counseling focused primarily on prenatal testing to detect genetic conditions. But counseling services have evolved to keep pace with a greater knowledge of genetics and wider application of genetic diagnostic testing. Today, there are several types of genetic counselors, and their expertise covers…

  1. Genetic diversity in Trichomonas vaginalis.

    Science.gov (United States)

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

  2. Quantitative genetics of disease traits.

    Science.gov (United States)

    Wray, N R; Visscher, P M

    2015-04-01

    John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics.

  3. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.

  4. Genetic disorders producing compressive radiculopathy.

    Science.gov (United States)

    Corey, Joseph M

    2006-11-01

    Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease.

  5. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women The U.S. Preventive Services ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women. This final recommendation statement ...

  6. Integrating genetics and social science: genetic risk scores.

    Science.gov (United States)

    Belsky, Daniel W; Israel, Salomon

    2014-01-01

    The sequencing of the human genome and the advent of low-cost genome-wide assays that generate millions of observations of individual genomes in a matter of hours constitute a disruptive innovation for social science. Many public use social science datasets have or will soon add genome-wide genetic data. With these new data come technical challenges, but also new possibilities. Among these, the lowest-hanging fruit and the most potentially disruptive to existing research programs is the ability to measure previously invisible contours of health and disease risk within populations. In this article, we outline why now is the time for social scientists to bring genetics into their research programs. We discuss how to select genetic variants to study. We explain how the polygenic architecture of complex traits and the low penetrance of individual genetic loci pose challenges to research integrating genetics and social science. We introduce genetic risk scores as a method of addressing these challenges and provide guidance on how genetic risk scores can be constructed. We conclude by outlining research questions that are ripe for social science inquiry.

  7. GENETIC DETERMINATIONS OF MENTALITY

    Directory of Open Access Journals (Sweden)

    L. V. Osadcha

    2015-12-01

    Full Text Available Purpose. The article is devoted to clarifying the role of physicality and psycho-physical characteristics of a person as a preconditions of the mentality forming. It is conducted a retrospective analysis of discourse on the mentality, the history of the concept, its temporal characteristics and collective conditioning. The concept of mentality has been widely studied in various fields of socio-humanities such as: history, psychology, and even marginal context of scientific discourses, including the esoteric. This study attempted to analyse the mentality phenomenon through the prism of the concept of experience. Methodology. The concept of experience was acquired by essential justification through the representatives of the phenomenological approach - the late Edmund Husserl, Maurice Merleau-Ponty, Bernhard Valdenfels. On the other hand the concept of mentality as a form of collective unconscious experience was entered to the scientific vocabulary by the representatives of the French historical science - M. Bloch, L. Febvre, J. Le Goff and others. At the intersection of these two methods, historical and phenomenological, the genetic method has been established – as a history of coverage and experience of internalization. Thanks to the application of genetic method the transition of phenomenon into the concept was examined. Novelty. The problem of change dynamics of mental phenomenon, in particular psycho-physical nature of a person, which has been only mentioned in F. Braudel works but has not received the adequate theoretical coverage, is analysed. To explain the practices of physicality and causality of this factor the action component of the cultural the overview of developments of such authors as V. Rozin (2005, M. Epstein (2005, N. Brunov (2003, A. Soares, M. Farhangmehr, A. Shoham (2007, D. Vaskul, F. Vannini Hospital (2012 was committed. Conclusions. The transition to paradoxical behaviour that is oriented on sign, and not on signalling

  8. Biochemical genetics of some Indian fishes

    Digital Repository Service at National Institute of Oceanography (India)

    Menezes, M.R.; Qasim, S.Z.

    of enzyme polymorphism proved very promising. The advantage of isozyme technique was that genetic interpretations could be made directly from the raw data using simple genetic models. Using these tehniques genetic variations within Indian mackerel, the oil...

  9. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  10. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness General Information from MedlinePlus ( ...

  11. Genetics Home Reference: Klippel-Trenaunay syndrome

    Science.gov (United States)

    ... age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Klippel ...

  12. Genetics Home Reference: Langerhans cell histiocytosis

    Science.gov (United States)

    ... also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Langerhans ...

  13. The value of cardiac genetic testing.

    Science.gov (United States)

    Ingles, Jodie; Semsarian, Christopher

    2014-08-01

    Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements.

  14. Genetics and alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2013-08-01

    Alcohol is widely consumed; however, excessive use creates serious physical, psychological and social problems and contributes to the pathogenesis of many diseases. Alcohol use disorders (that is, alcohol dependence and alcohol abuse) are maladaptive patterns of excessive drinking that lead to serious problems. Abundant evidence indicates that alcohol dependence (alcoholism) is a complex genetic disease, with variations in a large number of genes affecting a person's risk of alcoholism. Some of these genes have been identified, including two genes involved in the metabolism of alcohol (ADH1B and ALDH2) that have the strongest known affects on the risk of alcoholism. Studies continue to reveal other genes in which variants affect the risk of alcoholism or related traits, including GABRA2, CHRM2, KCNJ6 and AUTS2. As more variants are analysed and studies are combined for meta-analysis to achieve increased sample sizes, an improved picture of the many genes and pathways that affect the risk of alcoholism will be possible.

  15. The genetic tyrosinemias.

    Science.gov (United States)

    Scott, C Ronald

    2006-05-15

    The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma. This disorder is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). If untreated, death typically occurs at less than 2 years of age, with some chronic forms allowing longer survival. It has a prevalence of about 1 in 100,000 newborns in the general population. Oculocutaneous tyrosinemia, Type II, is caused by a deficiency of tyrosine aminotransferase (TAT). It clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Tyrosinemia Type III is an extremely rare disorder caused by a deficiency of 4-hydroxyphenylpyruvic dioxygenase. It has been associated with ataxia and mild mental retardation. These disorders are diagnosed by observing elevated tyrosine by plasma amino acid chromatography and characteristic tyrosine metabolites by urine organic acid analysis. In tyrosinemia Type I, methionine is also elevated, reflecting impaired hepatocellular function. Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyrosinemia Type I. Diagnosis can be confirmed by enzyme or molecular studies in tyrosinemia Type I. Therapy consists of a diet low in phenylalanine and tyrosine for each of the tyrosinemias and 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) for tyrosinemia Type I.

  16. Genetics of emotion.

    Science.gov (United States)

    Bevilacqua, Laura; Goldman, David

    2011-09-01

    Emotion is critical to most aspects of human behavior, and individual differences in systems recruited to process emotional stimuli, expressed as variation in emotionality, are characteristic of several neuropsychiatric disorders. We examine the genetic origins of individual differences in emotion processing by focusing on functional variants at five genes: catechol-O-methyltransferase (COMT), serotonin transporter (SLC6A4), neuropeptide Y (NPY), a glucocorticoid receptor-regulating co-chaperone of stress proteins (FKBP5) and pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1). These represent a range of effects of genes on emotion as well as the variety of mechanisms and factors, such as stress, that modify these effects. The new genomic era of genome-wide association studies (GWAS) and deep sequencing may yield a wealth of new loci modulating emotion. The effects of these genes can be validated by neuroimaging, neuroendocrine and other studies accessing intermediate phenotypes, deepening our understanding of mechanisms of emotion and variation in emotionality.

  17. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes

    2013-01-01

    Full Text Available The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

  18. Genetics of Endometrial Cancers

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Okuda

    2010-01-01

    Full Text Available Endometrial cancers exhibit a different mechanism of tumorigenesis and progression depending on histopathological and clinical types. The most frequently altered gene in estrogen-dependent endometrioid endometrial carcinoma tumors is PTEN. Microsatellite instability is another important genetic event in this type of tumor. In contrast, p53 mutations or Her2/neu overexpression are more frequent in non-endometrioid tumors. On the other hand, it is possible that the clear cell type may arise from a unique pathway which appears similar to the ovarian clear cell carcinoma. K-ras mutations are detected in approximately 15%–30% of endometrioid carcinomas, are unrelated to the existence of endometrial hyperplasia. A β-catenin mutation was detected in about 20% of endometrioid carcinomas, but is rare in serous carcinoma. Telomere shortening is another important type of genomic instability observed in endometrial cancer. Only non-endometrioid endometrial carcinoma tumors were significantly associated with critical telomere shortening in the adjacent morphologically normal epithelium. Lynch syndrome, which is an autosomal dominantly inherited disorder of cancer susceptibility and is characterized by a MSH2/MSH6 protein complex deficiency, is associated with the development of non-endometrioid carcinomas.

  19. Genetic aspects of pheochromocytoma.

    Science.gov (United States)

    Kolačkov, Katarzyna; Tupikowski, Krzysztof; Bednarek-Tupikowska, Grażyna

    2012-01-01

    Pheochromocytomas are derived from chromaffin cells of the adrenal medulla which synthesize and secrete catecholamines, thus affecting the cardiovascular system and metabolic processes. Pheochromocytoma is a tumor of the following multicarcinoma hereditary syndromes: type 2 multiple endocrine neoplasia, von Hippel-Lindau disease, type 1 neurofibromatosis and the pheochromocytomas/paragangliomas syndrome. Pheochromocytomas are relatively rare, and because of non-specific manifestation of these tumors and the possible lack of signs and symptoms for extended periods of time, the diagnosis may be delayed, which may, in turn, lead to death. Pheochromocytomas may occur sporadically. However, due to the frequent incidence of hereditary forms of these cancers, the presymptomatic genetic testing of family members with a positive family history is indicated, thus allowing for selecting people with higher risk of cancer. Early detection of the syndrome and the coexisting tumors (which may be malignant) may lead to a correct diagnosis, regular surveillance, preventive examinations and implementation of appropriate early treatment. Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors. The microarray-gene expression studies, based on the analysis of cellular pathways, have revealed two distinct clusters indicating two different routes of tumorgenesis. The genotype-phenotype correlations are still being studied and future research can give us clearer information about the function of these genes, which may prove crucial from the clinical point of view.

  20. Genetics and recent human evolution.

    Science.gov (United States)

    Templeton, Alan R

    2007-07-01

    Starting with "mitochondrial Eve" in 1987, genetics has played an increasingly important role in studies of the last two million years of human evolution. It initially appeared that genetic data resolved the basic models of recent human evolution in favor of the "out-of-Africa replacement" hypothesis in which anatomically modern humans evolved in Africa about 150,000 years ago, started to spread throughout the world about 100,000 years ago, and subsequently drove to complete genetic extinction (replacement) all other human populations in Eurasia. Unfortunately, many of the genetic studies on recent human evolution have suffered from scientific flaws, including misrepresenting the models of recent human evolution, focusing upon hypothesis compatibility rather than hypothesis testing, committing the ecological fallacy, and failing to consider a broader array of alternative hypotheses. Once these flaws are corrected, there is actually little genetic support for the out-of-Africa replacement hypothesis. Indeed, when genetic data are used in a hypothesis-testing framework, the out-of-Africa replacement hypothesis is strongly rejected. The model of recent human evolution that emerges from a statistical hypothesis-testing framework does not correspond to any of the traditional models of human evolution, but it is compatible with fossil and archaeological data. These studies also reveal that any one gene or DNA region captures only a small part of human evolutionary history, so multilocus studies are essential. As more and more loci became available, genetics will undoubtedly offer additional insights and resolutions of human evolution.

  1. Imaging genetics and psychiatric disorders.

    Science.gov (United States)

    Hashimoto, R; Ohi, K; Yamamori, H; Yasuda, Y; Fujimoto, M; Umeda-Yano, S; Watanabe, Y; Fukunaga, M; Takeda, M

    2015-01-01

    Imaging genetics is an integrated research method that uses neuroimaging and genetics to assess the impact of genetic variation on brain function and structure. Imaging genetics is both a tool for the discovery of risk genes for psychiatric disorders and a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative and mechanistic aspects of brain function implicated in psychiatric disease. Early studies of imaging genetics included association analyses between brain morphology and single nucleotide polymorphisms whose function is well known, such as catechol-Omethyltransferase (COMT) and brain-derived neurotrophic factor (BDNF). GWAS of psychiatric disorders have identified genes with unknown functions, such as ZNF804A, and imaging genetics has been used to investigate clues of the biological function of these genes. The difficulty in replicating the findings of studies with small sample sizes has motivated the creation of largescale collaborative consortiums, such as ENIGMA, CHARGE and IMAGEN, to collect thousands of images. In a genome-wide association study, the ENIGMA consortium successfully identified common variants in the genome associated with hippocampal volume at 12q24, and the CHARGE consortium replicated this finding. The new era of imaging genetics has just begun, and the next challenge we face is the discovery of small effect size signals from large data sets obtained from genetics and neuroimaging. New methods and technologies for data reduction with appropriate statistical thresholds, such as polygenic analysis and parallel independent component analysis (ICA), are warranted. Future advances in imaging genetics will aid in the discovery of genes and provide mechanistic insight into psychiatric disorders.

  2. Genetics of Forest Seed Handling

    DEFF Research Database (Denmark)

    Schmidt, Lars Holger

    2016-01-01

    High genetic quality seed is obtained from seed sources that match the planting site, have a good outcrossing rate, and are superior in some desirable characters. Non-degraded natural forests and plantations may be used as untested seed sources, which can sometimes be managed to promote outbreeding...... and increase seed production. Planted seed orchards aim at capturing large genetic variation and are planted in a design that facilitates genetic evaluation and promotes outbred seed production. Good seed production relies upon success of the whole range of reproductive events from flower differentiation...

  3. [Genetic evaluation of male homosexuality].

    Science.gov (United States)

    Gasztonyi, Z

    1998-02-01

    The family trees of 16 homosexual males are evaluated in the material of their Genetic Counselling Clinic. The familial cluster of three cases corresponded to the X-linked recessive inheritance. The results of family, twin and adoption studies are reviewed and the recent findings of molecular genetic and brain researches are summarised. Male homosexuality comprises of different subgroups, but one major entity is caused by X-linked recessive gene(s). This genetic background represent a predisposition which is triggered or suppressed by external factors.

  4. Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM).

    Science.gov (United States)

    2010-03-01

    DUTCH PROFESSIONAL GROUPS INVOLVED IN DRAWING UP THIS GUIDELINE: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the university hospitals' outpatient clinics for cardiogenetics.Approved by the NVVC, VKGN and NVK (paediatric cardiology section).NVVC - Nederlandse Vereniging voor Cardiologie - Dutch Society for Cardiology; VKGN - Vereniging Klinische Genetica Nederland - the Netherlands Society for Clinical Genetics; NVK - Nederlandse Vereniging Kindergeneeskunde - Dutch Society for Paediatrics.First published in Dutch in June 2009.

  5. Genetic mouse models for otitis media

    Institute of Scientific and Technical Information of China (English)

    Qingyin Zheng; Ken R Johnson

    2003-01-01

    @@ Genetics of Otitis Media (OM): OM is affected by multiple factors including eustachian tube (ET) structure and function, immune status, innate mucosal defense, genetic susceptibility, and pathogens.

  6. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R;

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling....

  7. Genetics Home Reference: chylomicron retention disease

    Science.gov (United States)

    ... a rare condition with approximately 40 cases described worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  8. Genetics Home Reference: microvillus inclusion disease

    Science.gov (United States)

    ... been reported in Europe, although this condition occurs worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... condition has been reported in individuals and families worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Genetics Home Reference: juvenile Paget disease

    Science.gov (United States)

    ... rare; about 50 affected individuals have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  11. Genetics Home Reference: factor X deficiency

    Science.gov (United States)

    ... deficiency occurs in approximately 1 per million individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  12. Genetics Home Reference: Laing distal myopathy

    Science.gov (United States)

    ... Several families with the condition have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  13. Genetics Home Reference: 3-M syndrome

    Science.gov (United States)

    ... 50 individuals with this disorder have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  14. [The genetic language: grammar, semantics, evolution].

    Science.gov (United States)

    Ratner, V A

    1993-05-01

    The genetic language is a collection of rules and regularities of genetic information coding for genetic texts. It is defined by alphabet, grammar, collection of punctuation marks and regulatory sites, semantics. There is a review of these general attributes of genetic language, including also the problems of synonymy and evolution. The main directions of theoretical investigations of genetic language and neighbouring questions are formulated: (1) cryptographic problems, (2) analysis of genetic texts, (3) theoretical-linguistic problems, (4) evolutionary linguistic questions. The problem of genetic language becomes one of the key ones of molecular genetics, molecular biology and gene engineering.

  15. Routine Discovery of Complex Genetic Models using Genetic Algorithms.

    Science.gov (United States)

    Moore, Jason H; Hahn, Lance W; Ritchie, Marylyn D; Thornton, Tricia A; White, Bill C

    2004-02-01

    Simulation studies are useful in various disciplines for a number of reasons including the development and evaluation of new computational and statistical methods. This is particularly true in human genetics and genetic epidemiology where new analytical methods are needed for the detection and characterization of disease susceptibility genes whose effects are complex, nonlinear, and partially or solely dependent on the effects of other genes (i.e. epistasis or gene-gene interaction). Despite this need, the development of complex genetic models that can be used to simulate data is not always intuitive. In fact, only a few such models have been published. We have previously developed a genetic algorithm approach to discovering complex genetic models in which two single nucleotide polymorphisms (SNPs) influence disease risk solely through nonlinear interactions. In this paper, we extend this approach for the discovery of high-order epistasis models involving three to five SNPs. We demonstrate that the genetic algorithm is capable of routinely discovering interesting high-order epistasis models in which each SNP influences risk of disease only through interactions with the other SNPs in the model. This study opens the door for routine simulation of complex gene-gene interactions among SNPs for the development and evaluation of new statistical and computational approaches for identifying common, complex multifactorial disease susceptibility genes.

  16. Genetics Home Reference: mycosis fungoides

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions mycosis fungoides mycosis fungoides Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Mycosis fungoides is the most common form of a ...

  17. Genetics of Ophraella leaf beetles

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This proposal is to collect samples of each species of Ophraella leaf beetle encountered, not to exceed 50 specimens per species, for genetic analysis using DNA...

  18. Genetics Home Reference: episodic ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions episodic ataxia episodic ataxia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Episodic ataxia is a group of related conditions that affect ...

  19. [The genetics of collagen diseases].

    Science.gov (United States)

    Kaplan, J; Maroteaux, P; Frezal, J

    1986-01-01

    Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.

  20. Genetics Home Reference: Cohen syndrome

    Science.gov (United States)

    ... presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003 Jun;72(6): ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  1. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  2. Genetic epidemiology of Scheuermann's disease

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Nielsen, Jan;

    2011-01-01

    The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time....

  3. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions trisomy 13 trisomy 13 Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Trisomy 13 , also called Patau syndrome, is a chromosomal ...

  4. Genetics Home Reference: Fanconi anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Fanconi anemia Fanconi anemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fanconi anemia is a condition that affects many parts of ...

  5. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  6. Genetics Home Reference: Laron syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  7. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

    2012-01-01

    Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare......, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies...... and whole genome sequencing gradually become more affordable, these approaches will be used on a larger scale. This may reveal new risk variants in migraine which may offer previously unsuspected biological insights....

  8. Genetics Home Reference: Alzheimer disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Alzheimer disease Alzheimer disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  9. Genetics Home Reference: dentinogenesis imperfecta

    Science.gov (United States)

    ... abnormalities. Type I occurs in people who have osteogenesis imperfecta , a genetic condition in which bones are brittle ... Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta , which is caused by mutations in one of ...

  10. Genetics Home Reference: Klinefelter syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Klinefelter syndrome Klinefelter syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Klinefelter syndrome is a chromosomal condition that affects male physical ...

  11. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions alpha thalassemia alpha thalassemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alpha thalassemia is a blood disorder that reduces the production ...

  12. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions beta thalassemia beta thalassemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Beta thalassemia is a blood disorder that reduces the production ...

  13. Genetics Home Reference: warfarin resistance

    Science.gov (United States)

    ... novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment. J Thromb ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  14. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    ... disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. Biochimie. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  15. Genetics Home Reference: Vohwinkel syndrome

    Science.gov (United States)

    ... of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  16. Genetics Home Reference: Larsen syndrome

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  17. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

    ... rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Genetics Home Reference: Brody myopathy

    Science.gov (United States)

    ... Kuppevelt TH, Ferlini A, Tomelleri G. Brody disease: insights into biochemical features of SERCA1 and identification of ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  20. Genetics Home Reference: hidradenitis suppurativa

    Science.gov (United States)

    ... JN. γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis. J Invest Dermatol. 2013 Mar; ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  1. Genetics Home Reference: Wolfram syndrome

    Science.gov (United States)

    ... V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  2. Genetic counseling in mitochondrial disease.

    Science.gov (United States)

    Vento, Jodie M; Pappa, Belen

    2013-04-01

    Mitochondrial diseases are a genetically and clinically diverse group of disorders that arise as a result of dysfunction of the mitochondria. Mitochondrial disorders can be caused by alterations in nuclear DNA and/or mitochondrial DNA. Although some mitochondrial syndromes have been described clearly in the literature many others present as challenging clinical cases with multisystemic involvement at variable ages of onset. Given the clinical variability and genetic heterogeneity of these conditions, patients and their families often experience a lengthy and complicated diagnostic process. The diagnostic journey may be characterized by heightened levels of uncertainty due to the delayed diagnosis and the absence of a clear prognosis, among other factors. Uncertainty surrounding issues of family planning and genetic testing may also affect the patient. The role of the genetic counselor is particularly important to help explain these complexities and support the patient and family's ability to achieve effective coping strategies in dealing with increased levels of uncertainty.

  3. Genetics Home Reference: bipolar disorder

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions bipolar disorder bipolar disorder Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Bipolar disorder is a mental health condition that causes extreme ...

  4. Genetics Home Reference: celiac disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions celiac disease celiac disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Celiac disease is a condition in which the immune ...

  5. Genetics Home Reference: clopidogrel resistance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions clopidogrel resistance clopidogrel resistance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Clopidogrel resistance is a condition in which the drug ...

  6. Genetic testing in domestic cats.

    Science.gov (United States)

    Lyons, Leslie A

    2012-12-01

    Varieties of genetic tests are currently available for the domestic cat that support veterinary health care, breed management, species identification, and forensic investigations. Approximately thirty-five genes contain over fifty mutations that cause feline health problems or alterations in the cat's appearance. Specific genes, such as sweet and drug receptors, have been knocked-out of Felidae during evolution and can be used along with mtDNA markers for species identification. Both STR and SNP panels differentiate cat race, breed, and individual identity, as well as gender-specific markers to determine sex of an individual. Cat genetic tests are common offerings for commercial laboratories, allowing both the veterinary clinician and the private owner to obtain DNA test results. This article will review the genetic tests for the domestic cat, and their various applications in different fields of science. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's genome.

  7. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions hereditary angioedema hereditary angioedema Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary angioedema is a disorder characterized by recurrent episodes of ...

  8. Genetics Home Reference: Gaucher disease

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Gaucher disease Gaucher disease Enable Javascript to view the expand/collapse ... cerebroside lipidosis syndrome Gaucher splenomegaly Gaucher syndrome Gaucher's ... deficiency glucocerebrosidosis glucosyl cerebroside lipidosis ...

  9. Genetics Home Reference: Carney complex

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Carney complex Carney complex Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Carney complex is a disorder characterized by an increased risk ...

  10. Genetic engineering of Geobacillus spp.

    Science.gov (United States)

    Kananavičiūtė, Rūta; Čitavičius, Donaldas

    2015-04-01

    Members of the genus Geobacillus are thermophiles that are of great biotechnological importance, since they are sources of many thermostable enzymes. Because of their metabolic versatility, geobacilli can be used as whole-cell catalysts in processes such as bioconversion and bioremediation. The effective employment of Geobacillus spp. requires the development of reliable methods for genetic engineering of these bacteria. Currently, genetic manipulation tools and protocols are under rapid development. However, there are several convenient cloning vectors, some of which replicate autonomously, while others are suitable for the genetic modification of chromosomal genes. Gene expression systems are also intensively studied. Combining these tools together with proper techniques for DNA transfer, some Geobacillus strains were shown to be valuable producers of recombinant proteins and industrially important biochemicals, such as ethanol or isobutanol. This review encompasses the progress made in the genetic engineering of Geobacillus spp. and surveys the vectors and transformation methods that are available for this genus.

  11. Optimal screening for genetic diseases.

    Science.gov (United States)

    Nævdal, Eric

    2014-12-01

    Screening for genetic diseases is performed in many regions and/or ethnic groups where there is a high prevalence of possibly malign genes. The propagation of such genes can be considered a dynamic externality. Given that many of these diseases are untreatable and give rise to truly tragic outcomes, they are a source of societal concern, and the screening process should perhaps be regulated. This paper incorporates a standard model of genetic propagation into an economic model of dynamic management to derive cost benefit rules for optimal screening. The highly non-linear nature of genetic dynamics gives rise to perhaps surprising results that include discontinuous controls and threshold effects. One insight is that any screening program that is in place for any amount of time should screen all individuals in a target population. The incorporation of genetic models may prove to be useful to several emerging fields in economics such as genoeconomics, neuroeconomics and paleoeconomics.

  12. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hashimoto thyroiditis is a condition that affects the function of ...

  13. Multicultural education and genetic counseling.

    Science.gov (United States)

    Weil, J

    2001-03-01

    The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural education, training, and practice of genetic counseling involves three major components: knowledge of relevant ethnocultural groups, ethnocultural self-awareness, and an understanding of institutional and social barriers to services. Despite the diversity of ethnocultural groups served and the critical role of direct experience and training for the genetic counselor, some general guidelines for multicultural genetic counseling can be identified. These include the importance of establishing and maintaining trust, the essential need to respect the counselee's healthcare beliefs and practices, and the necessity of understanding the impact of culture on the process of decision making and on counselee responses to nondirective counseling.

  14. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions lactose intolerance lactose intolerance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Lactose intolerance is an impaired ability to digest lactose, ...

  15. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  16. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... raised as girls and have a female gender identity. Because they do not have functional ovaries, affected ... called isolated Swyer syndrome . However, depending on the genetic cause, Swyer syndrome may also occur along with ...

  17. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  18. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... D; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium, Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Ärlsetig L, Martin J, ...

  19. Genetic polymorphisms in Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    Ho-chang KUO; Wei-chiao CHANG

    2011-01-01

    Kawasaki disease (KD) is an acute febrile systemic vasculitis,and the cause of KD is not well understood.It is likely due to multiple interactions between genes and environmental factors.The development of genetic association and genome-wide association studies (GWAS) has opened an avenue to better understanding the molecular mechanisms underlying KD.A novel ITPKC signaling pathway was recently found to be responsible for the susceptibility to KD.Furthermore,the GWAS demonstrated the functionally related susceptibility loci for KD in the Caucasian population.In the last decade,the identification of several genomic regions linked to the pathogenesis of KD has made a major breakthrough in understanding the genetics of KD.This review will focus on genetic polymorphisms associated with KD and describe some of the possible clinical implications and molecular mechanisms that can be used to explain how genetic variants regulate the pathogenesis in KD.

  20. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  1. Genetics Home Reference: Asperger syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  2. Genetics Home Reference: lung cancer

    Science.gov (United States)

    ... neoplasm of lung malignant tumor of lung pulmonary cancer pulmonary carcinoma pulmonary neoplasms respiratory carcinoma Related Information How are genetic conditions and genes named? Additional Information & Resources ... Encyclopedia: Lung Cancer--Non-Small Cell Encyclopedia: Lung Cancer--Small Cell ...

  3. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Parkinson disease Parkinson disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Parkinson disease is a progressive disorder of the nervous system. ...

  4. Genetics Home Reference: Horner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Horner syndrome Horner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Horner syndrome is a disorder that affects the eye ...

  5. Genetics Home Reference: prothrombin thrombophilia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions prothrombin thrombophilia prothrombin thrombophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Prothrombin thrombophilia is an inherited disorder of blood clotting . Thrombophilia ...

  6. Genetics Home Reference: Kawasaki disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Kawasaki disease Kawasaki disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Kawasaki disease is a sudden and time-limited (acute) illness ...

  7. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions amelogenesis imperfecta amelogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Amelogenesis imperfecta is a disorder of tooth development. This ...

  8. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions ulcerative colitis ulcerative colitis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Ulcerative colitis is a chronic disorder that affects the digestive ...

  9. Genetic algorithm optimization of entanglement

    CERN Document Server

    Navarro-Munoz, J C; Rosu, H C; Navarro-Munoz, Jorge C.

    2006-01-01

    We present an application of a genetic algorithmic computational method to the optimization of the concurrence measure of entanglement for the cases of one dimensional chains, as well as square and triangular lattices in a simple tight-binding approach

  10. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions myotonic dystrophy myotonic dystrophy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Myotonic dystrophy is part of a group of inherited disorders ...

  11. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... for This Page Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. ... RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in ...

  12. Genetics Home Reference: Ewing sarcoma

    Science.gov (United States)

    ... and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone ... of genetic change, called a somatic mutation, is not inherited. The protein produced from ...

  13. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions spina bifida spina bifida Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Spina bifida is a condition in which the neural tube, ...

  14. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Crohn disease Crohn disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Crohn disease is a complex, chronic disorder that primarily affects ...

  15. Genetics Home Reference: Lujan syndrome

    Science.gov (United States)

    ... of the Brain (image) Encyclopedia: Hypotonia Health Topic: Developmental Disabilities Genetic and Rare Diseases Information Center (1 link) Lujan syndrome Educational Resources (4 links) ... Association on Intellectual and Developmental Disabilities Resource list from the University of Kansas ...

  16. Genetics of Inflammatory Bowel Diseases.

    Science.gov (United States)

    McGovern, Dermot P B; Kugathasan, Subra; Cho, Judy H

    2015-10-01

    In this review, we provide an update on genome-wide association studies (GWAS) in inflammatory bowel disease (IBD). In addition, we summarize progress in defining the functional consequences of associated alleles for coding and noncoding genetic variation. In the small minority of loci where major association signals correspond to nonsynonymous variation, we summarize studies defining their functional effects and implications for therapeutic targeting. Importantly, the large majority of GWAS-associated loci involve noncoding variation, many of which modulate levels of gene expression. Recent expression quantitative trait loci (eQTL) studies have established that the expression of most human genes is regulated by noncoding genetic variations. Significant advances in defining the epigenetic landscape have demonstrated that IBD GWAS signals are highly enriched within cell-specific active enhancer marks. Studies in European ancestry populations have dominated the landscape of IBD genetics studies, but increasingly, studies in Asian and African-American populations are being reported. Common variation accounts for only a modest fraction of the predicted heritability and the role of rare genetic variation of higher effects (ie, odds ratios markedly deviating from 1) is increasingly being identified through sequencing efforts. These sequencing studies have been particularly productive in more severe very early onset cases. A major challenge in IBD genetics will be harnessing the vast array of genetic discovery for clinical utility through emerging precision medical initiatives. In this article, we discuss the rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exome sequencing, especially in very early onset, severe IBD cases. We summarize recent progress in the pharmacogenetics of IBD with respect to partitioning patient responses to anti-TNF and thiopurine therapies. Highly collaborative studies across research centers and

  17. [Consent to genetic paternity testing].

    Science.gov (United States)

    Lach, Arkadiusz; Linkowska, Katarzyna; Grzybowski, Tomasz

    2010-01-01

    The present article aims at reviewing the legislation in Poland and other countries concerning the consent to DNA sample collection, with the special reference to genetic relatedness analyses (including paternity tests) in anonymous samples of biological materials. The Polish legislator has not regulated this issue in a direct manner. Therefore, in view of progressing commercialization of genetic paternity tests, it is necessary to undertake legislative actions towards regulation of DNA tests admissibility, both in civil proceedings and by commission of private individuals.

  18. Genetic testing and risk interpretation

    Directory of Open Access Journals (Sweden)

    Talya Miron-Shatz

    2010-04-01

    Full Text Available Genetic screening for BRCA1 and BRCA2 gives women the opportunity for early detection, surveillance, and intervention. One key feature of genetic testing and counseling is the provision of personal lifetime risk. However, little attention has been paid to how women interpret lifetime risk information, despite the fact that they base screening, treatment and family planning decisions on such information. To study this vital issue, we set out to test the ability of women to choose the most appropriate interpretation of National Cancer Institute's (NCI message about lifetime risk of developing cancer for a woman with altered BRCA1 and BRCA2 genes. Participants included 277 women who had not undergone genetic testing or had cancer and 207 women who had undergone genetic testing or had cancer. Over 50\\% of the women who had not undergone genetic testing or had cancer and 40\\% of those who had undergone genetic testing or had cancer misunderstood NCI's information. Furthermore, in line with a growing body of research, we found that high numeracy level (objective or subjective is positively associated with a woman's ability to correctly interpret NCI's message.

  19. Genetic divergence of tomato subsamples

    Directory of Open Access Journals (Sweden)

    André Pugnal Mattedi

    2014-02-01

    Full Text Available Understanding the genetic variability of a species is crucial for the progress of a genetic breeding program and requires characterization and evaluation of germplasm. This study aimed to characterize and evaluate 101 tomato subsamples of the Salad group (fresh market and two commercial controls, one of the Salad group (cv. Fanny and another of the Santa Cruz group (cv. Santa Clara. Four experiments were conducted in a randomized block design with three replications and five plants per plot. The joint analysis of variance was performed and characteristics with significant complex interaction between control and experiment were excluded. Subsequently, the multicollinearity diagnostic test was carried out and characteristics that contributed to severe multicollinearity were excluded. The relative importance of each characteristics for genetic divergence was calculated by the Singh's method (Singh, 1981, and the less important ones were excluded according to Garcia (1998. Results showed large genetic divergence among the subsamples for morphological, agronomic and organoleptic characteristics, indicating potential for genetic improvement. The characteristics total soluble solids, mean number of good fruits per plant, endocarp thickness, mean mass of marketable fruit per plant, total acidity, mean number of unmarketable fruit per plant, internode diameter, internode length, main stem thickness and leaf width contributed little to the genetic divergence between the subsamples and may be excluded in future studies.

  20. [Genetic resources of nodule bacteria].

    Science.gov (United States)

    Rumiantseva, M L

    2009-09-01

    Nodule bacteria (rhizobia) form highly specific symbiosis with leguminous plants. The efficiency of accumulation of biological nitrogen depends on molecular-genetic interaction between the host plant and rhizobia. Genetic characteristics of microsymbiotic strains are crucial in developing highly productive and stress-resistant symbiotic pairs: rhizobium strain-host plant cultivar (species). The present review considers the issue of studying genetic resources of nodule bacteria to identify genes and their blocks, responsible for the ability of rhizobia to form highly effective symbiosis in various agroecological conditions. The main approaches to investigation of intraspecific and interspecific genetic and genomic diversity of nodule bacteria are considered, from MLEE analysis to the recent methods of genomic DNA analysis using biochips. The data are presented showing that gene centers of host plants are centers of genetic diversification of nodule bacteria, because the intraspecific polymorphism of genetic markers of the core and the accessory rhizobial genomes is extremely high in them. Genotypic features of trapped and nodule subpopulations of alfalfa nodule bacteria are discussed. A survey of literature showed that the genomes of natural strains in alfalfa gene centers exhibit significant differences in genes involved in control of metabolism, replication, recombination, and the formation of defense response (hsd genes). Natural populations of rhizobia are regarded as a huge gene pool serving as a source of evolutionary innovations.

  1. Behavior genetics: past, present, future.

    Science.gov (United States)

    Jaffee, Sara R; Price, Thomas S; Reyes, Teresa M

    2013-11-01

    The disciplines of developmental psychopathology and behavior genetics are concerned with many of the same questions about the etiology and course of normal and abnormal behavior and about the factors that promote typical development despite the presence of risk. The goal of this paper is to summarize how research in behavior genetics has shed light on questions that are central to developmental psychopathology. We briefly review the origins of behavior genetics, summarize the findings that have been gleaned from several decades of quantitative and molecular genetics research, and describe future directions for research that will delineate gene function as well as pathways from genes to brain to behavior. The importance of environmental contributions, at both genetic and epigenetic levels, will be discussed. We conclude that behavior genetics has made significant contributions to developmental psychopathology by documenting the interplay among risk and protective factors at multiple levels of the organism, by clarifying the causal status of risk exposures, and by identifying factors that account for change and stability in psychopathology. As the tools to identify gene function become increasingly sophisticated, and as behavioral geneticists become increasingly interdisciplinary in their scope, the field is poised to make ever greater contributions to our understanding of typical and atypical development.

  2. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

    Directory of Open Access Journals (Sweden)

    Dušanka Savić Pavićević

    2013-01-01

    Full Text Available Myotonic dystrophy type 1 (DM1 is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of the DMPK gene, with the number of repeats ranging from 50 to several thousand. The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease. Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability. Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease. Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course. We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.

  3. Sex Determination, Sex Ratios, and Genetic Conflict

    NARCIS (Netherlands)

    Werren, John H.; Beukeboom, Leo W.

    1998-01-01

    Genetic mechanisms of sex determination are unexpectedly diverse and change rapidly during evolution. We review the role of genetic conflict as the driving force behind this diversity and turnover. Genetic conflict occurs when different components of a genetic system are subject to selection in oppo

  4. GeneEd -- A Genetics Educational Resource

    Science.gov (United States)

    ... Javascript on. Feature: Genetics 101 GeneEd — A Genetics Educational Resource Past Issues / Summer 2013 Table of Contents Science ... The Hereditary Material of Life / GeneEd — A Genetics Educational Resource / Using The Genetics Home Reference Website / Understanding the ...

  5. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert

    2010-01-01

    To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD.......To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD....

  6. Annual review of genetics. Volume 21

    Energy Technology Data Exchange (ETDEWEB)

    Campbell, A.

    1987-01-01

    This book contains 20 articles on genetics. Some of the titles are: Behavioral Genetics of Paramecium, Natural Variation in the Genetic Code, Alternative Promoters in Developmental Gene Expression, Oncogene Activation by Chromosome Translocation in Human Malignancy, The Genetic System, the Deme, and the Origin of the Species, and RNA 3' End Formation in the Control of Gene Expression.

  7. Genetics of hearing and deafness.

    Science.gov (United States)

    Angeli, Simon; Lin, Xi; Liu, Xue Zhong

    2012-11-01

    This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ∼ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today's clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention.

  8. Overcoming Challenges in Engineering the Genetic Code.

    Science.gov (United States)

    Lajoie, M J; Söll, D; Church, G M

    2016-02-27

    Withstanding 3.5 billion years of genetic drift, the canonical genetic code remains such a fundamental foundation for the complexity of life that it is highly conserved across all three phylogenetic domains. Genome engineering technologies are now making it possible to rationally change the genetic code, offering resistance to viruses, genetic isolation from horizontal gene transfer, and prevention of environmental escape by genetically modified organisms. We discuss the biochemical, genetic, and technological challenges that must be overcome in order to engineer the genetic code.

  9. Microsatellite data analysis for population genetics.

    Science.gov (United States)

    Kim, Kyung Seok; Sappington, Thomas W

    2013-01-01

    Theories and analytical tools of population genetics have been widely applied for addressing various questions in the fields of ecological genetics, conservation biology, and any context where the role of dispersal or gene flow is important. Underlying much of population genetics is the analysis of variation at selectively neutral marker loci, and microsatellites continue to be a popular choice of marker. In recent decades, software programs to estimate population genetics parameters have been developed at an increasing pace as computational science and theoretical knowledge advance. Numerous population genetics software programs are presently available to analyze microsatellite genotype data, but only a handful are commonly employed for calculating parameters such as genetic variation, genetic structure, patterns of spatial and temporal gene flow, population demography, individual population assignment, and genetic relationships within and between populations. In this chapter, we introduce statistical analyses and relevant population genetic software programs that are commonly employed in the field of population genetics and molecular ecology.

  10. Obtaining genetic testing in pediatric epilepsy.

    Science.gov (United States)

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.

  11. Genetic progression of malignant melanoma.

    Science.gov (United States)

    Tímár, J; Vizkeleti, L; Doma, V; Barbai, T; Rásó, E

    2016-03-01

    Malignant melanoma of the skin is the most aggressive human cancer given that a primary tumor a few millimeters in diameter frequently has full metastatic competence. In view of that, revealing the genetic background of this potential may also help to better understand tumor dissemination in general. Genomic analyses have established the molecular classification of melanoma based on the most frequent driver oncogenic mutations (BRAF, NRAS, KIT) and have also revealed a long list of rare events, including mutations and amplifications as well as genetic microheterogeneity. At the moment, it is unclear whether any of these rare events have role in the metastasis initiation process since the major drivers do not have such a role. During lymphatic and hematogenous dissemination, the clonal selection process is evidently reflected by differences in oncogenic drivers in the metastases versus the primary tumor. Clonal selection is also evident during lymphatic progression, though the genetic background of this immunoselection is less clear. Genomic analyses of metastases identified further genetic alterations, some of which may correspond to metastasis maintenance genes. The natural genetic progression of melanoma can be modified by targeted (BRAF or MEK inhibitor) or immunotherapies. Some of the rare events in primary tumors may result in primary resistance, while further new genetic lesions develop during the acquired resistance to both targeted and immunotherapies. Only a few genetic lesions of the primary tumor are constant during natural or therapy-modulated progression. EGFR4 and NMDAR2 mutations, MITF and MET amplifications and PTEN loss can be considered as metastasis drivers. Furthermore, BRAF and MITF amplifications as well as PTEN loss are also responsible for resistance to targeted therapies, whereas NRAS mutation is the only founder genetic lesion showing any association with sensitivity to immunotherapies. Unfortunately, there are hardly any data on the

  12. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

    Science.gov (United States)

    Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

    2015-01-01

    Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

  13. The Virtual Genetics Lab II: Improvements to a Freely Available Software Simulation of Genetics

    Science.gov (United States)

    White, Brian T.

    2012-01-01

    The Virtual Genetics Lab II (VGLII) is an improved version of the highly successful genetics simulation software, the Virtual Genetics Lab (VGL). The software allows students to use the techniques of genetic analysis to design crosses and interpret data to solve realistic genetics problems involving a hypothetical diploid insect. This is a brief…

  14. Evolving Molecular Genetics of Glioblastoma

    Institute of Scientific and Technical Information of China (English)

    Qiu-Ju Li; Jin-Quan Cai; Cheng-Yin Liu

    2016-01-01

    Objective: To summary the recent advances in molecular research of glioblastoma (GBM) and current trends in personalized therapy of this disease.Data Sources: Data cited in this review were obtained mainly from PubMed in English up to 2015, with keywords "molecular", "genetics", "GBM", "isocitrate dehydrogenase", "telomerase reverse transcriptase", "epidermal growth factor receptor", "PTPRZ1-MET", and "clinical treatment".Study Selection: Articles regarding the morphological pathology of GBM, the epidemiology of GBM, genetic alteration of GBM, and the development of treatment for GBM patients were identified, retrieved, and reviewed.Results: There is a large amount of data supporting the view that these recurrent genetic aberrations occur in a specific context of cellular origin, co-oncogenic hits and are present in distinct patient populations.Primary and secondary GBMs are distinct disease entities that affect different age groups of patients and develop through distinct genetic aberrations.These differences are important, especially because they may affect sensitivity to radio-and chemo-therapy and should thus be considered in the identification of targets for novel therapeutic approaches.Conclusion: This review highlights the molecular and genetic alterations of GBM, indicating that they are of potential value in the diagnosis and treatment for patients with GBM.

  15. Voice Matching Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Abhishek Bal

    2014-03-01

    Full Text Available In this paper, the use of Genetic Algorithm (GA for voice recognition is described. The practical application of Genetic Algorithm (GA to the solution of engineering problem is a rapidly emerging approach in the field of control engineering and signal processing. Genetic algorithms are useful for searching a space in multi-directional way from large spaces and poorly defined space. Voice is a signal of infinite information. Digital processing of voice signal is very important for automatic voice recognition technology. Nowadays, voice processing is very much important in security mechanism due to mimicry characteristic. So studying the voice feature extraction in voice processing is very necessary in military, hospital, telephone system, investigation bureau and etc. In order to extract valuable information from the voice signal, make decisions on the process, and obtain results, the data needs to be manipulated and analyzed. In this paper, if the instant voice is not matched with same person’s reference voices in the database, then Genetic Algorithm (GA is applied between two randomly chosen reference voices. Again the instant voice is compared with the result of Genetic Algorithm (GA which is used, including its three main steps: selection, crossover and mutation. We illustrate our approach with different sample of voices from human in our institution.

  16. Genetic basis of atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Oscar Campuzano

    2016-12-01

    Full Text Available Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical practice. The disease may be induced secondary to other diseases such as hypertension, valvular heart disease, and heart failure, conferring an increased risk of stroke and sudden death. Epidemiological studies have provided evidence that genetic factors play an important role and up to 30% of clinically diagnosed patients may have a family history of atrial fibrillation. To date, several rare variants have been identified in a wide range of genes associated with ionic channels, calcium handling protein, fibrosis, conduction and inflammation. Important advances in clinical, genetic and molecular basis have been performed over the last decade, improving diagnosis and treatment. However, the genetics of atrial fibrillation is complex and pathophysiological data remains still unraveling. A better understanding of the genetic basis will induce accurate risk stratification and personalized clinical treatment. In this review, we have focused on current genetics basis of atrial fibrillation.

  17. Yeasts: from genetics to biotechnology.

    Science.gov (United States)

    Russo, S; Berkovitz Siman-Tov, R; Poli, G

    1995-01-01

    Yeasts have been known and used in food and alcoholic fermentations ever since the Neolithic Age. In more recent times, on the basis of their peculiar features and history, yeasts have become very important experimental models in both microbiological and genetic research, as well as the main characters in many fermentative production processes. In the last 40 years, advances in molecular biology and genetic engineering have made possible not only the genetic selection of organisms, but also the genetic modification of some of them, especially the simplest of them, such as bacteria and yeasts. These discoveries have led to the availability of new yeast strains fit to fulfill requests of industrial production and fermentation. Moreover, genetically modified and transformed yeasts have been constructed that are able to produce large amounts of biologically active proteins and enzymes. Thus, recombinant yeasts make it easier to produce drugs, biologically active products, diagnostics, and vaccines, by inexpensive and relatively simple techniques. Yeasts are going to become more and more important in the "biotechnological revolution" by virtue of both their features and their very long and safe use in human nutrition and industry.

  18. Genetics of frontotemporal lobar degeneration

    Directory of Open Access Journals (Sweden)

    Aswathy P

    2010-10-01

    Full Text Available Frontotemporal lobar degeneration (FTLD is a highly heterogenous group of progressive neurodegenerative disorders characterized by atrophy of prefrontal and anterior temporal cortices. Recently, the research in the field of FTLD has gained increased attention due to the clinical, neuropathological, and genetic heterogeneity and has increased our understanding of the disease pathogenesis. FTLD is a genetically complex disorder. It has a strong genetic basis and 50% of patients show a positive family history for FTLD. Linkage studies have revealed seven chromosomal loci and a number of genes including MAPT, PGRN, VCP, and CHMB-2B are associated with the disease. Neuropathologically, FTLD is classified into tauopathies and ubiquitinopathies. The vast majority of FTLD cases are characterized by pathological accumulation of tau or TDP-43 positive inclusions, each as an outcome of mutations in MAPT or PGRN, respectively. Identification of novel proteins involved in the pathophysiology of the disease, such as progranulin and TDP-43, may prove to be excellent biomarkers of disease progression and thereby lead to the development of better therapeutic options through pharmacogenomics. However, much more dissections into the causative pathways are needed to get a full picture of the etiology. Over the past decade, advances in research on the genetics of FTLD have revealed many pathogenic mutations leading to different clinical manifestations of the disease. This review discusses the current concepts and recent advances in our understanding of the genetics of FTLD.

  19. Genetic Doping and Health Damages

    Directory of Open Access Journals (Sweden)

    AA Fallahi Fallahi

    2011-03-01

    Full Text Available "nBackground: Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in fu­ture and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capac­ity to enhance athletic performance". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes."nMethods: This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., ge­netic doping, genes, exercise, performance, athletes until July 2010."nConclusion: There are several genes related to sport performance and if they are used, they will have health risks and sever dam­ages such as cancer, autoimmunization, and heart attack.

  20. The genetics of human obesity.

    Science.gov (United States)

    Waalen, Jill

    2014-10-01

    The heritability of obesity has long been appreciated and the genetics of obesity has been the focus of intensive study for decades. Early studies elucidating genetic factors involved in rare monogenic and syndromic forms of extreme obesity focused attention on dysfunction of hypothalamic leptin-related pathways in the control of food intake as a major contributor. Subsequent genome-wide association studies of common genetic variants identified novel loci that are involved in more common forms of obesity across populations of diverse ethnicities and ages. The subsequent search for factors contributing to the heritability of obesity not explained by these 2 approaches ("missing heritability") has revealed additional rare variants, copy number variants, and epigenetic changes that contribute. Although clinical applications of these findings have been limited to date, the increasing understanding of the interplay of these genetic factors with environmental conditions, such as the increased availability of high calorie foods and decreased energy expenditure of sedentary lifestyles, promises to accelerate the translation of genetic findings into more successful preventive and therapeutic interventions.

  1. Actuarial considerations on genetic testing.

    Science.gov (United States)

    Le Grys, D J

    1997-08-29

    In the UK the majority of life insurers employ relatively liberal underwriting standards so that people can easily gain access to life assurance cover. Up to 95% of applicants are accepted at standard terms. If genetic testing becomes widespread then the buying habits of the public may change. Proportionately more people with a predisposition to major types of disease may take life assurance cover while people with no predisposition may take proportionately less. A model is used to show the possible effect. However, the time-scales are long and the mortality of assured people is steadily improving. The change in buying habits may result in the rate of improvement slowing down. In the whole population, the improvement in mortality is likely to continue and could improve faster if widespread genetic testing results in earlier diagnosis and treatment. Life insurers would not call for genetic tests and need not see the results of previous tests except for very large sums assured. In the UK, life insurers are unlikely to change their underwriting standards, and are extremely unlikely to bring in basic premium rating systems that give discounts on the premium or penalty points according to peoples genetic profile. The implications of widespread genetic testing on medical insurance and some health insurance covers may be more extreme.

  2. Somatically acquired structural genetic differences

    DEFF Research Database (Denmark)

    Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare;

    2016-01-01

    Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34.......Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested...... that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic...

  3. Genetic influences on political ideologies

    DEFF Research Database (Denmark)

    Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert

    2014-01-01

    Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60 % of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant...... different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly......, but as Fisher proposed long ago, genetic influences on complex traits will be composed of thousands of markers of very small effects and it will require extremely large samples to have enough power in order to identify specific polymorphisms related to complex social traits....

  4. Scientific discovery using genetic programming

    DEFF Research Database (Denmark)

    Keijzer, Maarten

    2001-01-01

    programming paradigm. The induction of mathematical expressions based on data is called symbolic regression. In this work, genetic programming is extended to not just fit the data i.e., get the numbers right, but also to get the dimensions right. For this units of measurement are used. The main contribution...... in this work can be summarized as: The symbolic expressions produced by genetic programming can be made suitable for analysis and interpretation by using units of measurements to guide or restrict the search. To achieve this, the following has been accomplished: A standard genetic programming system...... that are numerically stable and correct. A case study using four real-world problems in the induction of dimensionally correct empirical equations on data using the two different methods is presented to illustrate to use and limitations of these methods in a framework of scientific discovery....

  5. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...... genotyping platforms across sites, investigators at each site conducted a linear mixed-model association analysis for each dataset. Combining summary statistics, we conducted fixed-effects meta-analyses of all epilepsy, focal epilepsy, and genetic generalised epilepsy. We set the genome-wide significance...

  6. Genetic alterations in pancreatic carcinoma

    Directory of Open Access Journals (Sweden)

    Schmid Roland M

    2003-01-01

    Full Text Available Abstract Cancer of the exocrine pancreas represents the fifth leading cause of cancer death in the Western population with an average survival after diagnosis of 3 to 6 months and a five-year survival rate under 5%. Our understanding of the molecular carcinogenesis has improved in the last few years due to the development of novel molecular biological techniques. Pancreatic cancer is a multi-stage process resulting from the accumulation of genetic changes in the somatic DNA of normal cells. In this article we describe major genetic alterations of pancreatic cancer, mutations in the proto-oncogene K-RAS and the tumor suppressors INK4A, TP53 and DPC4/SMAD4. The accumulation of these genetic changes leads to a profound disturbance in cell cycle regulation and continuous growth. The knowledge of the underlying molecular mechanisms will offer new therapeutic and diagnostic options and hopefully improve the outcome of this aggressive disease.

  7. Genetic studies in alcohol research

    Energy Technology Data Exchange (ETDEWEB)

    Karp, R.W. [National Institute on Alcohol Abuse and Alcoholism, Rockville, MD (United States)

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  8. GENETICS ASPECTS OF DIABETIC NEPHROPATHY

    Directory of Open Access Journals (Sweden)

    Oana-Elena Sauca

    2010-09-01

    Full Text Available Diabetic nephropathy is a clinical syndrome characterized by persistent albuminuria, a relentless decline in GFR, raised arterial blood pressure, and increased relative mortality for cardiovascular diseases. The pathogenesis of diabetic nephropathy is multifactorial, with contributions from metabolic abnormalities, hemodynamic alteration, and various growth and genetic factors. The identification of the main genes would allow the detection of those individuals at high risk for diabetic nephropathy and better understanding of its pathophysiologyas well.The present review discusses the main information available in literature regarding some genetic variants (involved in the renin-angiotensin system, glucose and lipid metabolism and some cytoskeleton proteins that reaffirms the importance of genetic factors in diabetic nephropathy.

  9. Genetic Engineering Workshop Report, 2010

    Energy Technology Data Exchange (ETDEWEB)

    Allen, J; Slezak, T

    2010-11-03

    The Lawrence Livermore National Laboratory (LLNL) Bioinformatics group has recently taken on a role in DTRA's Transformation Medical Technologies (TMT) program. The high-level goal of TMT is to accelerate the development of broad-spectrum countermeasures. To achieve this goal, there is a need to assess the genetic engineering (GE) approaches, potential application as well as detection and mitigation strategies. LLNL was tasked to coordinate a workshop to determine the scope of investments that DTRA should make to stay current with the rapid advances in genetic engineering technologies, so that accidental or malicious uses of GE technologies could be adequately detected and characterized. Attachment A is an earlier report produced by LLNL for TMT that provides some relevant background on Genetic Engineering detection. A workshop was held on September 23-24, 2010 in Springfield, Virginia. It was attended by a total of 55 people (see Attachment B). Twenty four (44%) of the attendees were academic researchers involved in GE or bioinformatics technology, 6 (11%) were from DTRA or the TMT program management, 7 (13%) were current TMT performers (including Jonathan Allen and Tom Slezak of LLNL who hosted the workshop), 11 (20%) were from other Federal agencies, and 7 (13%) were from industries that are involved in genetic engineering. Several attendees could be placed in multiple categories. There were 26 attendees (47%) who were from out of the DC area and received travel assistance through Invitational Travel Orders (ITOs). We note that this workshop could not have been as successful without the ability to invite experts from outside of the Beltway region. This workshop was an unclassified discussion of the science behind current genetic engineering capabilities. US citizenship was not required for attendance. While this may have limited some discussions concerning risk, we felt that it was more important for this first workshop to focus on the scientific state of

  10. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  11. Genetics of colouration in birds.

    Science.gov (United States)

    Roulin, Alexandre; Ducrest, Anne-Lyse

    2013-01-01

    Establishing the links between phenotype and genotype is of great importance for resolving key questions about the evolution, maintenance and adaptive function of phenotypic variation. Bird colouration is one of the most studied systems to investigate the role of natural and sexual selection in the evolution of phenotypic diversity. Given the recent advances in molecular tools that allow discovering genetic polymorphisms and measuring gene and protein expression levels, it is timely to review the literature on the genetics of bird colouration. The present study shows that melanin-based colour phenotypes are often associated with mutations at melanogenic genes. Differences in melanin-based colouration are caused by switches of eumelanin to pheomelanin production or by changes in feather keratin structure, melanoblast migration and differentiation, as well as melanosome structure. Similar associations with other types of colourations are difficult to establish, because our knowledge about the molecular genetics of carotenoid-based and structural colouration is quasi inexistent. This discrepancy stems from the fact that only melanin-based colouration shows pronounced heritability estimates, i.e. the resemblance between related individuals is usually mainly explained by genetic factors. In contrast, the expression of carotenoid-based colouration is phenotypically plastic with a high sensitivity to variation in environmental conditions. It therefore appears that melanin-based colour traits are prime systems to understand the genetic basis of phenotypic variation. In this context, birds have a great potential to bring us to new frontiers where many exciting discoveries will be made on the genetics of phenotypic traits, such as colouration. In this context, a major goal of our review is to suggest a number of exciting future avenues.

  12. An online agricultural genetics course.

    Science.gov (United States)

    Moses, Vivian

    2014-07-03

    In this age of rapidly developing online learning, the advent of a series of talks and supplementary material devoted to genetics in agriculture from Henry Stewart Talks ( http://hstalks.com/main/browse_talks.php?r=776&c=252 ) is welcome indeed. The series is designed for researchers and graduate students in the fields of genetics, plant science, animal science, agricultural science, food science, human nutrition and environmental science, advanced undergraduate students, policy makers and managers in public and private sectors, and continuing professional education/development.

  13. [Neurobiology and genetics of addiction].

    Science.gov (United States)

    Kiefer, F

    2010-04-01

    Recent results on the neurobiological bases of addictive disorders allow new insights into the etiopathogenesis of addiction to be made and allow targets for new therapeutic strategies to be defined. An important advancement in the understanding of the underlying pathophysiology derives from recent research results, showing similarities between addiction and physiological neural plasticity in learning and memory. These include basic mechanisms involving dopamine, glutamate, and their cellular and molecular targets leading to drug-induced synaptic alterations in the mesolimbic reward system. Genetic factors modulate the individual vulnerability. The challenge of future research will be to generate more efficient and individualized therapies based on the insights from neurobiology and genetics.

  14. Marburg Virus Reverse Genetics Systems.

    Science.gov (United States)

    Schmidt, Kristina Maria; Mühlberger, Elke

    2016-06-22

    The highly pathogenic Marburg virus (MARV) is a member of the Filoviridae family and belongs to the group of nonsegmented negative-strand RNA viruses. Reverse genetics systems established for MARV have been used to study various aspects of the viral replication cycle, analyze host responses, image viral infection, and screen for antivirals. This article provides an overview of the currently established MARV reverse genetic systems based on minigenomes, infectious virus-like particles and full-length clones, and the research that has been conducted using these systems.

  15. Genetic variation in dieback resistance

    DEFF Research Database (Denmark)

    Lobo, Albin; Hansen, Jon Kehlet; McKinney, Lea Vig

    2014-01-01

    -eastern Zealand, Denmark, and confirmed the presence of substantial genetic variation in ash dieback susceptibility. The average crown damage increased in the trial from 61% in 2009 to 66% in 2012 and 72% in 2014, while the estimated heritability was 0.42 in both 2009 and 2012 but increased to 0.53 in 2014....... Genetic correlation between assessments was 0.88 between 2009 and 2012 and 0.91 between 2009 and 2014, suggesting fairly good possibilities for early selection of superior genotypes in the presence of high infection levels in the trial. The level of crown damage had strong negative effect on growth...

  16. Technological Innovations in Forensic Genetics

    DEFF Research Database (Denmark)

    Wienroth, Matthias; Morling, Niels; Williams, Robin

    2014-01-01

    This paper discusses the nature of four waves of technological innovations in forensic genetics alongside the social, legal and ethical aspect of these innovations. It emphasises the way in which technological advances and their socio-legal frameworks are co-produced, shaping technology...... expectations, social identities, and legal institutions. It also considers how imagined and actual uses of forensic genetic technologies are entangled with assertions about social order, affirmations of common values and civil rights, and promises about security and justice. Our comments seek to encourage...

  17. Metabolomics of genetically modified crops.

    Science.gov (United States)

    Simó, Carolina; Ibáñez, Clara; Valdés, Alberto; Cifuentes, Alejandro; García-Cañas, Virginia

    2014-10-20

    Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs) making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not) the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade.

  18. Genetic Programming with Simple Loops

    Institute of Scientific and Technical Information of China (English)

    QI Yuesheng; WANG Baozhong; KANG Lishan

    1999-01-01

    A kind of loop function LoopN inGenetic Programming (GP) is proposed.Different from other forms of loopfunction, such as While-Do and Repeat-Until, LoopNtakes only oneargument as its loop body and makes its loop body simply run N times,soinfinite loops will never happen. The problem of how to avoid too manylayers ofloops in Genetic Programming is also solved. The advantage ofLoopN in GP is shown bythe computational results in solving the mowerproblem.

  19. Population genetics of African ungulates

    DEFF Research Database (Denmark)

    Lorenzen, Eline

    Molecular genetic techniques were used to gain insights into the evolutionary forces that have shaped the present day diversity of African savannah ungu-lates, which constitute the most species-rich mega faunal assemblage on earth. The studies included in this thesis represent individual species......-specific data sets, which are used to elucidate evolutionary processes of importance to the savannah ungulate community. Patterns of DNA variation were analyzed to assess the genetic signatures of Pleistocene refugia and investigate aspects of speciation, intraspecific structuring, hybridization, and historic...

  20. Mendelian genetics of male infertility

    Science.gov (United States)

    Hwang, Kathleen; Yatsenko, Alexander N.; Jorgez, Carolina J.; Mukherjee, Sarmistha; Nalam, Roopa Lata; Matzuk, Martin M.; Lamb, Dolores J.

    2013-01-01

    Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature’s protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm. PMID:21382200

  1. Marburg Virus Reverse Genetics Systems

    Directory of Open Access Journals (Sweden)

    Kristina Maria Schmidt

    2016-06-01

    Full Text Available The highly pathogenic Marburg virus (MARV is a member of the Filoviridae family and belongs to the group of nonsegmented negative-strand RNA viruses. Reverse genetics systems established for MARV have been used to study various aspects of the viral replication cycle, analyze host responses, image viral infection, and screen for antivirals. This article provides an overview of the currently established MARV reverse genetic systems based on minigenomes, infectious virus-like particles and full-length clones, and the research that has been conducted using these systems.

  2. Metabolomics of Genetically Modified Crops

    Directory of Open Access Journals (Sweden)

    Carolina Simó

    2014-10-01

    Full Text Available Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade.

  3. [A genetic ID for tomorrow?].

    Science.gov (United States)

    Perbal, Laurence

    2015-01-01

    Dozens of private companies have emerged in 2005, with the commercial purpose of offering the public a wide variety of personal genetic tests - direct-to-consumer personal genome tests. Simultaneously, a collaborative research initiative on individual sequencing - the Personal Genome Project - was born in Harvard University, then online. This text provides an analysis of the promises and limits of the proposed individual sequencing. First, the scope and quality of individual predictive genetic sequencing are still far from being acquired. Moreover, it is necessary to question the ethical standards of confidentiality and respect for privacy in the connected information era.

  4. Metabolomics of Genetically Modified Crops

    Science.gov (United States)

    Simó, Carolina; Ibáñez, Clara; Valdés, Alberto; Cifuentes, Alejandro; García-Cañas, Virginia

    2014-01-01

    Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs) making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not) the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade. PMID:25334064

  5. Acute - Glossary Entry - Genetics Home Reference [Genetics Home Reference (Glossary)

    Lifescience Database Archive (English)

    Full Text Available | F | G | H | I | J | K | L | M | N | O | P | Q-R | S | T | U | V | W | X | Y-Z Acute Definition(s) Having ...ding Medical Terminology . Published : October 27, 2014 Acute - Glossary Entry - Genetics Home Reference ...

  6. Genetic data for groundfish - Genetics and genomics of northeastern Pacific groundfish

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conduct genetic analyses of groundfish in the northeastern Pacific, with a focus on population genetics and genomics of rockfishes and sablefish. Genetic data for...

  7. Provision of genetics services on Guam.

    Science.gov (United States)

    McWalter, Kirsty; Hasegawa, Lianne; Au, Sylvia Mann

    2013-12-01

    Guam's geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.

  8. Hypermethioninemias of genetic and non-genetic origin: A review.

    Science.gov (United States)

    Mudd, S Harvey

    2011-02-15

    This review covers briefly the major conditions, genetic and non-genetic, sometimes leading to abnormally elevated methionine, with emphasis on recent developments. A major aim is to assist in the differential diagnosis of hypermethioninemia. The genetic conditions are: (1) Homocystinuria due to cystathionine β-synthase (CBS) deficiency. At least 150 different mutations in the CBS gene have been identified since this deficiency was established in 1964. Hypermethioninemia is due chiefly to remethylation of the accumulated homocysteine. (2) Deficient activity of methionine adenosyltransferases I and III (MAT I/III), the isoenzymes the catalytic subunit of which are encoded by MAT1A. Methionine accumulates because its conversion to S-adenosylmethionine (AdoMet) is impaired. (3) Glycine N-methyltrasferase (GNMT) deficiency. Disruption of a quantitatively major pathway for AdoMet disposal leads to AdoMet accumulation with secondary down-regulation of methionine flux into AdoMet. (4) S-adenosylhomocysteine (AdoHcy) hydrolase (AHCY) deficiency. Not being catabolized normally, AdoHcy accumulates and inhibits many AdoMet-dependent methyltransferases, producing accumulation of AdoMet and, thereby, hypermethioninemia. (5) Citrin deficiency, found chiefly in Asian countries. Lack of this mitochondrial aspartate-glutamate transporter may produce (usually transient) hypermethioninemia, the immediate cause of which remains uncertain. (6) Fumarylacetoacetate hydrolase (FAH) deficiency (tyrosinemia type I) may lead to hypermethioninemia secondary either to liver damage and/or to accumulation of fumarylacetoacetate, an inhibitor of the high K(m) MAT. Additional possible genetic causes of hypermethioninemia accompanied by elevations of plasma AdoMet include mitochondrial disorders (the specificity and frequency of which remain to be elucidated). Non-genetic conditions include: (a) Liver disease, which may cause hypermethioninemia, mild, or severe. (b) Low-birth-weight and

  9. Genetic variations in multiple myeloma I

    DEFF Research Database (Denmark)

    Vangsted, A.; Klausen, T.W.; Vogel, Ulla Birgitte

    2012-01-01

    Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis...... of variability in a population. The complex interplay between environment and genes for the development of cancer may therefore be influenced by genetic variations. A genetic variation may change the function of the gene, and if the genetic variation is associated with the risk of disease, that particular gene...

  10. Genetics of scleroderma: implications for personalized medicine?

    Directory of Open Access Journals (Sweden)

    Assassi Shervin

    2013-01-01

    Full Text Available Abstract Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robustly replicated genetic susceptibility loci, several genes have been recently linked to various systemic sclerosis disease manifestations. Furthermore, inclusion of genetic studies in design and analysis of drug trials could lead to development of genetic biomarkers that predict treatment response. Future genetic studies in well-characterized systemic sclerosis cohorts paired with advanced analytic approaches can lead to development of genetic biomarkers for targeted diagnostic and therapeutic interventions in systemic sclerosis.

  11. Genetics Home Reference: familial hyperaldosteronism

    Science.gov (United States)

    ... Martinez-Aguayo A, Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: 10.1159/000208798. Epub 2009 Apr 1. Review. Citation on PubMed Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero ...

  12. The myth of genetic enhancement.

    Science.gov (United States)

    Rosoff, Philip M

    2012-06-01

    The ongoing revolution in molecular genetics has led many to speculate that one day we will be able to change the expression or phenotype of numerous complex traits to improve ourselves in many different ways. The prospect of genetic enhancements has generated heated controversy, with proponents advocating research and implementation, with caution advised for concerns about justice, and critics tending to see the prospect of genetic enhancements as an assault on human freedom and human nature. Both camps base their arguments on the unquestioned assumption that the science will realize either their dreams or nightmares. In this paper, I show that their beliefs are based upon two fundamental mistakes. First, they are based upon an unwarranted reliance in a genetic determinism that takes for granted that the traits that we might most want to enhance, like intelligence, aggression, shyness, and even athletic ability, can be causally directed by specific genes. In so doing, character descriptions are reified to be concrete and discrete entities, in this case, genes. Second, they have accepted on faith that there is, or will be, a science to translate their hopes or worries into reality when, in fact, that is unlikely to occur because of the irreducible complexity of phenotypic expression.

  13. Liver fibrogenesis and genetic factors.

    Science.gov (United States)

    Boursier, Jérôme; Louvet, Alexandre

    2011-06-01

    Chronic liver diseases lead to the accumulation of fibrosis in the liver with eventual progression to cirrhosis and its complications. However, there is a wide range of inter-individual variation in the liver fibrogenesis process, thus posing a challenge to physicians to identify patients with poor prognosis. As demographic and environmental factors only account for a small portion of fibrogenesis variability, host genetic factors have been suggested as playing an important role. Due to technical limitations, the first genetic studies were restricted to the evaluation of candidate genes having a known or supposed function in liver fibrogenesis. Recently, technological improvements have made it possible to study the whole human genome in a single scan. Genome-wide association studies have considerably heightened the interest in genetics as part of the study of liver fibrogenesis through their identification of previously unsuspected genes that are statistically associated with liver fibrosis. It is thus possible to determine new diagnostic or prognostic genetic markers for the management of patients with chronic liver diseases. Moreover, functional analyses of these genes may provide new insights into the pathophysiology of liver fibrogenesis.

  14. Genetic Engineering and Crop Production.

    Science.gov (United States)

    Jones, Helen C.; Frost, S.

    1991-01-01

    With a spotlight upon current agricultural difficulties and environmental dilemmas, this paper considers both the extant and potential applications of genetic engineering with respect to crop production. The nonagricultural factors most likely to sway the impact of this emergent technology upon future crop production are illustrated. (JJK)

  15. Expanding the eukaryotic genetic code

    Science.gov (United States)

    Chin, Jason W.; Cropp, T. Ashton; Anderson, J. Christopher; Schultz, Peter G.

    2013-01-22

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNA synthetases, orthogonal pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  16. Genetics of the dominant ataxias

    NARCIS (Netherlands)

    Verbeek, Dineke S.; van de Warrenburg, Bart P. C.

    2011-01-01

    The relevant clinical, genetic, and cell biologic aspects of the dominantly inherited spinocerebellar ataxias (SCAs) are reviewed in this article. SCAs are diseases of the entire nervous system; in addition to cerebellar ataxia, the central (but not obligate) disease feature, many noncerebellar comp

  17. Innovation in Livestock Genetic Improvement

    NARCIS (Netherlands)

    Mofakkarul Islam, M.; Renwick, A.; Lamprinopoulou, C.; Klerkx, L.W.A.

    2013-01-01

    The application of genetic selection technologies in livestock breeding offers unique opportunities to enhance the productivity, profitability and competitiveness of the livestock industry. However, there is a concern that the uptake of these technologies has been slower in the sheep and beef sector

  18. Current developments in canine genetics.

    Science.gov (United States)

    Marschall, Yvonne; Distl, Ottmar

    2010-01-01

    In recent years, canine genetics had made huge progress. In 1999 the first complete karyotype and ideogram of the dog was published. Several linkage and RH maps followed. Using these maps, sets of microsatellite markers for whole genome scans were compiled. In 2003 the sequencing of the DNA of a female Boxer began. Now the second version of the dog genome assembly has been put online, and recently, a microchip SNP array became available. Parallel to these developments, some causal mutations for different traits have been identified. Most of the identified mutations were responsible for monogenic canine hereditary diseases. With the tools available now, it is possible to use the advantages of the population structure of the various dog breeds to unravel complex genetic traits. Furthermore, the dog is a suitable model for the research of a large number of human hereditary diseases and particularly for cancer genetics, heart and neurodegenerative diseases. There are some examples where it was possible to benefit from the knowledge of canine genetics for human research. The search for quantitative trait loci (QTL), the testing of candidate genes and genome-wide association studies can now be performed in dogs. QTL for skeletal size variations and for canine hip dysplasia have been already identified and for these complex traits the responsible genes and their possible interactions can now be identified.

  19. Dupuytren diathesis and genetic risk

    NARCIS (Netherlands)

    Dolmans, Guido H; de Bock, Geertruida H; Werker, Paul M

    2012-01-01

    PURPOSE: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. The aim of this study was t

  20. Expanding the eukaryotic genetic code

    Energy Technology Data Exchange (ETDEWEB)

    Chin, Jason W.; Cropp, T. Ashton; Anderson, J. Christopher; Schultz, Peter G.

    2017-02-28

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNA synthetases, orthogonal pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  1. Genetics Home Reference: propionic acidemia

    Science.gov (United States)

    ... Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians. Related Information What information about a genetic ...

  2. Genetics Home Reference: Pyle disease

    Science.gov (United States)

    ... Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  3. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... 0b013e32830e6fb2. Review. Citation on PubMed Shaker M. New insights into the allergic march. Curr Opin Pediatr. 2014 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  4. Family Assessment and Genetic Counseling.

    Science.gov (United States)

    Carpenter, Pat; And Others

    Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…

  5. Genetic susceptibility for Salmonella infections

    NARCIS (Netherlands)

    Amsterdam JGC van; Jong WH de; Jonge R de; Hoebee B; TOX

    2005-01-01

    The Salmonella species Typhimurium and Enteritidis form the most important causes of food poisoning. Immunity to Salmonellae requires innate and specific immune responses. Reported here are the genetic polymorphisms in the genes of Nramp1, Toll-like receptors and CD14 related to the innate immune re

  6. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... 5(6):513-24. Review. Citation on PubMed Harvey RJ, Topf M, Harvey K, Rees MI. The genetics of hyperekplexia: more ... 2):125-8. Citation on PubMed Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas ...

  7. Genetic Predisposition to Retinoblastoma (Rb)

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    Determination of 8 cytogenetic indicators in 14 cases of Rb,their 21 parents and 14 normal controls revealed various degrees ofchromosome instability and nondisjunction in the patients and their parents,indicating the presence of genetic neoplastic predisposition to neoplasm inRb patients.Eye Science 1993;9:149-152.

  8. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  9. Genetic Technology and Food Security

    NARCIS (Netherlands)

    Grossman, M.R.

    2014-01-01

    In the United States and globally, producers cultivate millions of hectares of genetically modified crops. In the United States, the USDA, EPA, and FDA govern authorization of GMOs under federal laws and agency regulations. Because food produced from GMOs is not considered materially different from

  10. Statistical methods in spatial genetics

    DEFF Research Database (Denmark)

    Guillot, Gilles; Leblois, Raphael; Coulon, Aurelie

    2009-01-01

    to keep abreast with the latest methodological developments, we review the statistical toolbox available to analyse population genetic data in a spatially explicit framework. We mostly focus on statistical concepts but also discuss practical aspects of the analytical methods, highlighting not only...... the potential of various approaches but also methodological pitfalls....

  11. Molecular Genetics of Mitochondrial Disorders

    Science.gov (United States)

    Wong, Lee-Jun C.

    2010-01-01

    Mitochondrial respiratory chain (RC) disorders (RCDs) are a group of genetically and clinically heterogeneous diseases because of the fact that protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure, and function of mitochondria, including DNA…

  12. The genetics of intraocular pressure.

    Science.gov (United States)

    Ojha, Pallavi; Wiggs, Janey L; Pasquale, Louis R

    2013-01-01

    Glaucoma is a leading cause of irreversible blindness. Intraocular pressure (IOP) is the only modifiable risk factor for glaucoma, yet there is little known about the molecular events that regulate IOP. Genetic and genomic studies have helped identify genes that influence IOP and could lead to the identification of biological pathways that serve as targets for novel pressure-modifying therapies. Genetic linkage studies resulted in the identification of several genes that cause Mendelian (autosomal dominant or autosomal recessive) forms of high-pressure glaucoma, including MYOC. PITX2, FOXC1, and CYP1B1. Classical twin studies suggest that IOP is a heritable trait. More recently, genome-wide association studies (GWAS) have shown that common genetic variants in the GAS7 and TMCO1 genomic regions are associated with elevated IOP. TMCO1 has also been associated with primary open-angle glaucoma in patients with advanced disease. A further study identifying additional genes contributing to IOP will be necessary to fully define the underlying genetic architecture of IOP.

  13. Epilepsy genetics: the ongoing revolution.

    Science.gov (United States)

    Lesca, G; Depienne, C

    2015-01-01

    Epilepsies have long remained refractory to gene identification due to several obstacles, including a highly variable inter- and intrafamilial expressivity of the phenotypes, a high frequency of phenocopies, and a huge genetic heterogeneity. Recent technological breakthroughs, such as array comparative genomic hybridization and next generation sequencing, have been leading, in the past few years, to the identification of an increasing number of genomic regions and genes in which mutations or copy-number variations cause various epileptic disorders, revealing an enormous diversity of pathophysiological mechanisms. The field that has undergone the most striking revolution is that of epileptic encephalopathies, for which most of causing genes have been discovered since the year 2012. Some examples are the continuous spike-and-waves during slow-wave sleep and Landau-Kleffner syndromes for which the recent discovery of the role of GRIN2A mutations has finally confirmed the genetic bases. These new technologies begin to be used for diagnostic applications, and the main challenge now resides in the interpretation of the huge mass of variants detected by these methods. The identification of causative mutations in epilepsies provides definitive confirmation of the clinical diagnosis, allows accurate genetic counselling, and sometimes permits the development of new appropriate and specific antiepileptic therapies. Future challenges include the identification of the genetic or environmental factors that modify the epileptic phenotypes caused by mutations in a given gene and the understanding of the role of somatic mutations in sporadic epilepsies.

  14. Genetics of onset of asthma

    NARCIS (Netherlands)

    Dijk, F. Nicole; de Jongste, Johan C.; Postma, Dirkje S.; Koppelman, Gerard H.

    2013-01-01

    Purpose of review Most asthma starts early in life. Defining phenotypes of asthma at this age is difficult as many preschool children have asthma-like respiratory symptoms. This review discusses progress in defining early wheezing phenotypes and describes genetic factors associated with the age of o

  15. Genetic predisposition to Parkinson's disease

    DEFF Research Database (Denmark)

    Halling, Jónrit; Petersen, Maria Skaalum; Grandjean, Philippe

    2008-01-01

    OBJECTIVE: To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased. METHODS: Blood samples were collected from 79 PD patients and 154...

  16. Simultaneous stabilization using genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Benson, R.W.; Schmitendorf, W.E. (California Univ., Irvine, CA (USA). Dept. of Mechanical Engineering)

    1991-01-01

    This paper considers the problem of simultaneously stabilizing a set of plants using full state feedback. The problem is converted to a simple optimization problem which is solved by a genetic algorithm. Several examples demonstrate the utility of this method. 14 refs., 8 figs.

  17. Manipulating Genetic Material in Bacteria

    Science.gov (United States)

    1998-01-01

    Lisa Crawford, a graduate research assistant from the University of Toledo, works with Laurel Karr of Marshall Space Flight Center (MSFC) in the molecular biology laboratory. They are donducting genetic manipulation of bacteria and yeast for the production of large amount of desired protein. Photo credit: NASA/Marshall Space Flight Center (MSFC)

  18. Genetics Home Reference: Alexander disease

    Science.gov (United States)

    ... up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. J Hum Genet. 2013 Apr;58(4):183-8. doi: 10.1038/jhg.2012.152. Epub 2013 Jan 31. Citation on ... GS. Alexander disease: ventricular garlands and abnormalities of the medulla and ...

  19. Brain imaging, genetics and emotion

    NARCIS (Netherlands)

    Aleman, Andre; Swart, Marte; van Rijn, Sophie

    2008-01-01

    This paper reviews the published evidence on genetically driven variation in neurotransmitter function and brain circuits involved in emotion. Several studies point to a role of the serotonin transporter promoter polymorphism in amygdala activation during emotion perception. We also discuss other po

  20. Genetic modifiers of Huntington's disease.

    Science.gov (United States)

    Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

    2014-09-15

    Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.