Sample records for aldh1a2 raldh2 genetic

  1. ALDH1A2 (RALDH2 genetic variation in human congenital heart disease

    Directory of Open Access Journals (Sweden)

    Mesquita Sonia MF


    Full Text Available Abstract Background Signaling by the vitamin A-derived morphogen retinoic acid (RA is required at multiple steps of cardiac development. Since conversion of retinaldehyde to RA by retinaldehyde dehydrogenase type II (ALDH1A2, a.k.a RALDH2 is critical for cardiac development, we screened patients with congenital heart disease (CHDs for genetic variation at the ALDH1A2 locus. Methods One-hundred and thirty-three CHD patients were screened for genetic variation at the ALDH1A2 locus through bi-directional sequencing. In addition, six SNPs (rs2704188, rs1441815, rs3784259, rs1530293, rs1899430 at the same locus were studied using a TDT-based association approach in 101 CHD trios. Observed mutations were modeled through molecular mechanics (MM simulations using the AMBER 9 package, Sander and Pmemd programs. Sequence conservation of observed mutations was evaluated through phylogenetic tree construction from ungapped alignments containing ALDH8 s, ALDH1Ls, ALDH1 s and ALDH2 s. Trees were generated by the Neighbor Joining method. Variations potentially affecting splicing mechanisms were cloned and functional assays were designed to test splicing alterations using the pSPL3 splicing assay. Results We describe in Tetralogy of Fallot (TOF the mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4. Exon 4 encodes part of the highly-conserved tetramerization domain, a structural motif required for ALDH oligomerization. Molecular mechanics simulation studies of the two mutations indicate that they hinder tetramerization. We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing. Moreover, association studies performed with classical models and with the transmission disequilibrium test (TDT design using single marker genotype, or haplotype information do not show differences between cases and controls. Conclusion In summary, our screen indicates that

  2. Ethanol Disrupts Chondrification of the Neurocranial Cartilages in Medaka Embryos without Affecting Aldehyde Dehydrogenase 1A2 (Aldh1A2) Promoter Methylation (United States)

    Medaka (Oryzias latipes) embryos at different developmental stages were exposed to ethanol for 48 h, then allowed to hatch. Teratogenic effects were evaluated in hatchlings after examining chondrocranial cartilage deformities. Ethanol disrupted cartilage development in medaka in a dose and developme...

  3. Retinoic acid signalling in the zebrafish embryo is necessary during pre-segmentation stages to pattern the anterior-posterior axis of the CNS and to induce a pectoral fin bud. (United States)

    Grandel, Heiner; Lun, Klaus; Rauch, Gerd-Jörg; Rhinn, Muriel; Piotrowski, Tatjana; Houart, Corinne; Sordino, Paolo; Küchler, Axel M; Schulte-Merker, Stefan; Geisler, Robert; Holder, Nigel; Wilson, Stephen W; Brand, Michael


    A number of studies have suggested that retinoic acid (RA) is an important signal for patterning the hindbrain, the branchial arches and the limb bud. Retinoic acid is thought to act on the posterior hindbrain and the limb buds at somitogenesis stages in chick and mouse embryos. Here we report a much earlier requirement for RA signalling during pre-segmentation stages for proper development of these structures in zebrafish. We present evidence that a RA signal is necessary during pre-segmentation stages for proper expression of the spinal cord markers hoxb5a and hoxb6b, suggesting an influence of RA on anteroposterior patterning of the neural plate posterior to the hindbrain. We report the identification and expression pattern of the zebrafish retinaldehyde dehydrogenase2 (raldh2/aldh1a2) gene. Raldh2 synthesises retinoic acid (RA) from its immediate precursor retinal. It is expressed in a highly ordered spatial and temporal fashion during gastrulation in the involuting mesoderm and during later embryogenesis in paraxial mesoderm, branchial arches, eyes and fin buds, suggesting the involvement of RA at different times of development in different functional contexts. Mapping of the raldh2 gene reveals close linkage to no-fin (nof), a newly discovered mutant lacking pectoral fins and cartilaginous gill arches. Cloning and functional tests of the wild-type and nof alleles of raldh2 reveal that nof is a raldh2 mutant. By treating nof mutants with RA during different time windows and by making use of a retinoic acid receptor antagonist, we show that RA signalling during pre-segmentation stages is necessary for anteroposterior patterning in the CNS and for fin induction to occur.

  4. Genetics (United States)

    ... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...

  5. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.


    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  6. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt


    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...

  7. Meningeal retinoic acid contributes to neocortical lamination and radial migration during mouse brain development

    Directory of Open Access Journals (Sweden)

    Carole Haushalter


    Full Text Available Retinoic acid (RA is a diffusible molecule involved in early forebrain patterning. Its later production in the meninges by the retinaldehyde dehydrogenase RALDH2 coincides with the time of cortical neuron generation. A function of RA in this process has not been adressed directly as Raldh2−/− mouse mutants are embryonic lethal. Here, we used a conditional genetic strategy to inactivate Raldh2 just prior to onset of its expression in the developing meninges. This inactivation does not affect the formation of the cortical progenitor populations, their rate of division, or timing of differentiation. However, migration of late-born cortical neurons is delayed, with neurons stalling in the intermediate zone and exhibiting an abnormal multipolar morphology. This suggests that RA controls the multipolar-to-bipolar transition that occurs in the intermediate zone and allows neurons to start locomotion in the cortical plate. Our work also shows a role for RA in cortical lamination, as deep layers are expanded and a subset of layer IV neurons are not formed in the Raldh2-ablated mutants. These data demonstrate that meninges are a source of extrinsic signals important for cortical development.

  8. Genetic Mapping (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic ... genetic mapping? Among the main goals of the Human Genome Project (HGP) was to develop new, better and cheaper ...

  9. Genetic Disorders (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 ...

  10. Genetic Testing (United States)

    ... risk factor for the development of celiac disease, genetic predisposition. Without this factor, it is impossible that the ... with antibody testing in the future. When the genetic predisposition for celiac disease was detected (on Chromosome 6) ...

  11. Genetic counseling (United States)

    ... have a high risk of having babies with Tay-Sachs or Canavan's disease. African-Americans, who may risk ... yours to make. Images Genetic counseling and prenatal diagnosis References Simpson JL, Holzgreve W, Driscoll DA. Genetic ...

  12. Genetic risk


    ten Kate, Leo P.


    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show the expected pattern of occurrence in families. Factors that amplify genetic risk are also discussed. Of the two methods of genetic risk assessm...

  13. Imaging Genetics (United States)

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


    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.

  14. About Genetic Counselors (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  15. Genetic barcodes (United States)

    Weier, Heinz -Ulrich G


    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.

  16. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B


    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.

  17. Genetic Engineering (United States)

    Phillips, John


    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)

  18. Genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Grefenstette, J.J.


    Genetic algorithms solve problems by using principles inspired by natural population genetics: They maintain a population of knowledge structures that represent candidate solutions, and then let that population evolve over time through competition and controlled variation. GAs are being applied to a wide range of optimization and learning problems in many domains.

  19. Genetic Counseling. (United States)

    Exceptional Parent, 1987


    Information is presented on a number of tests used in genetic counseling (e.g., genetic evaluation, chromosome evaluation, consideration of multifactorial conditions, prenatal testing, and chorionic villus sampling) which help parents with one disabled child make family planning decisions. (CB)

  20. Genetic risk

    NARCIS (Netherlands)

    ten Kate, L.P.


    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it

  1. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro


    . 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...

  2. Genetic Discrimination (United States)

    Skip to main content Genetic Discrimination Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions ...

  3. Genetic Testing (United States)

    ... on to their children Screening embryos for disease Testing for genetic diseases in adults before they cause ... provide information about the pros and cons of testing. NIH: National Human Genome Research Institute

  4. Genetic GIScience

    DEFF Research Database (Denmark)

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


    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 geograp....... These methodological developments and exemplar provide the basis for a new synthesis in health geography: genetic GIScience.......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...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome...

  5. Arthropod Genetics. (United States)

    Zumwalde, Sharon


    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  6. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  7. J. Genet. classic 37

    Indian Academy of Sciences (India)


    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  8. J. Genet. classic 125

    Indian Academy of Sciences (India)


    Journal of Genetics, Vol. 83, No. 2, August 2004. 125. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 126. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 127. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 128. Page 5. J. Genet. classic.

  9. Desktop Genetics. (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward


    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  10. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo


    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  11. Genetic Recombination (United States)

    Whitehouse, H. L. K.


    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  12. Melanoma genetics

    DEFF Research Database (Denmark)

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


    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 herita......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...... 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...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  13. J. Genet. classic 235

    Indian Academy of Sciences (India)


    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  14. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.


    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  15. J. Genet. classic 9

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 88, No. 1, April 2009. 9. Page 2. J. Genet. classic. 10. Journal of Genetics, Vol. 88, No. 1, April 2009. Page 3. J. Genet. classic. Journal of Genetics, Vol. 88, No. 1, April 2009. 11. Page 4. J. Genet. classic. 12. Journal of Genetics, Vol. 88, No. 1, April 2009. Page 5. J. Genet. classic. Journal of Genetics ...

  16. Prenatal Genetic Screening Tests (United States)

    ... FAQs Prenatal Genetic Screening Tests Page Navigation ▼ ACOG Pregnancy Book Prenatal Genetic Screening Tests Patient Education FAQs Prenatal Genetic Screening Tests Patient Education Pamphlets - ...

  17. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.


    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  18. Genetic Prediction. (United States)

    Turkheimer, Eric


    The fundamental reason that the genetics of behavior has remained so controversial for so long is that the layer of theory between data and their interpretation is thicker and more opaque than in more established areas of science. The finding that variations in tiny snippets of DNA have small but detectable relations to variation in behavior surprises no one, at least no one who was paying attention to the twin studies. How such snippets of DNA are related to differences in behavior-known as the gene-to-behavior pathway-is the great theoretical problem of modern behavioral genetics. Given that intentional human breeding is a horrific prospect, what kind of technology might we want (or fear) out of human behavioral genetics? One possibility is a technology that could predict important behavioral characteristics of humans based on their genomes alone. A moment's thought suggests significant benefits and risks that might be associated with such a possibility, but for the moment, just consider how convincing it would be if on the day of a baby's birth we could make meaningful predictions about whether he or she would become a concert pianist or an alcoholic. This article will consider where we are right now as regards that possibility, using human height and intelligence as the primary examples. © 2015 The Hastings Center.

  19. Cancer Genetics Services Directory (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  20. Chiari malformation type I: a case-control association study of 58 developmental genes.

    Directory of Open Access Journals (Sweden)

    Aintzane Urbizu

    Full Text Available Chiari malformation type I (CMI is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF, often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. A putative genetic contribution to CMI is suggested by familial aggregation and twin studies. Experimental models and human morphometric studies have suggested an underlying paraxial mesoderm insufficiency. We performed a case-control association study of 303 tag single nucleotide polymorphisms (SNP across 58 candidate genes involved in early paraxial mesoderm development in a sample of 415 CMI patients and 524 sex-matched controls. A subgroup of patients diagnosed with classical, small-PCF CMI by means of MRI-based PCF morphometry (n = 186, underwent additional analysis. The genes selected are involved in signalling gradients occurring during segmental patterning of the occipital somites (FGF8, Wnt, and retinoic acid pathways and from bone morphogenetic proteins or BMP, Notch, Cdx and Hox pathways or in placental angiogenesis, sclerotome development or CMI-associated syndromes. Single-marker analysis identified nominal associations with 18 SNPs in 14 genes (CDX1, FLT1, RARG, NKD2, MSGN1, RBPJ1, FGFR1, RDH10, NOG, RARA, LFNG, KDR, ALDH1A2, BMPR1A considering the whole CMI sample. None of these overcame corrections for multiple comparisons, in contrast with four SNPs in CDX1, FLT1 and ALDH1A2 in the classical CMI group. Multiple marker analysis identified a risk haplotype for classical CMI in ALDH1A2 and CDX1. Furthermore, we analyzed the possible contributions of the most significantly associated SNPs to different PCF morphometric traits. These findings suggest that common variants in genes involved in somitogenesis and fetal vascular development may confer susceptibility to CMI.

  1. Molecular genetics

    International Nuclear Information System (INIS)

    Kubitschek, H.E.


    Progress is reported on studies on the nature and action of lethal and mutagenic lesions in DNA and the mechanisms by which these are produced in bacteria by ionizing radiation or by decay of radioisotopes incorporated in DNA. Studies of radioisotope decay provide the advantages that the original lesion is localized in the genetic material and the immediate physical and chemical changes that occur at decay are known. Specific types of DNA damage were related to characteristic decay properties of several radioisotopes. Incorporated 125 I, for example, induces a double-stranded break in DNA with almost every decay, but causes remarkably little damage of any other kind to the DNA. (U.S.)

  2. Genetics and Rheumatic Disease (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 ...

  3. Physicians' knowledge of genetics and genetic tests. (United States)

    Hofman, K J; Tambor, E S; Chase, G A; Geller, G; Faden, R R; Holtzman, N A


    To assess primary care physicians' and psychiatrists' knowledge of genetics and genetic tests and the factors associated with differences in these physicians' knowledge. Questionnaires were mailed in 1991 to 1,795 primary care physicians (family physicians, internists, pediatricians, obstetrician-gynecologists) and psychiatrists who had graduated from medical school between 1950 and 1985 (67.6% of the sample had graduated after 1970) and who were members of professional societies. The questions elicited demographic and practice characteristics as well as knowledge of genetics concepts and facts and awareness of the availability of genetic tests. To validate the questionnaire, 360 medical geneticists and genetic counselors received questionnaires. Statistical analysis involved arc-sine function transformation, t-tests, analyses of variance, F-tests, Tukey's HSD, and stepwise multiple regression. A total of 1,140 (64.8%) of the non-geneticist physicians responded. They correctly answered an average of 73.9%, SD, 13.9%, of the knowledge items, compared with 94.6%, SD, 4.2%, for the genetics professionals (p < .001). The most significant predictors of knowledge were recency of graduation from medical school and practicing in primary care specialties in which exposure to genetics problems is likely. Other significant predictors (from most to least important) were graduation from a U.S. medical school, willingness to adopt a new predictive test before it becomes standard practice, not using pharmaceutical companies as a source of information about new medical practices, and taking a required genetics course in medical school. The results suggest that knowledge of genetics and genetic tests is increasing among physicians, particularly among more recent graduates and physicians who are exposed to genetics problems in their practices, but deficiencies remain. Although a medical school course in genetics may improve knowledge, it is not sufficient. Greater emphasis is needed

  4. What Is Genetic Ancestry Testing? (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  5. Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia (United States)

    Coste, Karen; J. E. Beurskens, Leonardus W.; Blanc, Pierre; Gallot, Denis; Delabaere, Amélie; Blanchon, Loïc; Tibboel, Dick; Labbé, André; Rottier, Robbert J.


    Congenital diaphragmatic hernia (CDH) is a common life-threatening congenital anomaly resulting in high rates of perinatal death and neonatal respiratory distress. Some of the nonisolated forms are related to single-gene mutations or genomic rearrangements, but the genetics of the isolated forms (60% of cases) still remains a challenging issue. Retinoid signaling (RA) is critical for both diaphragm and lung development, and it has been hypothesized that subtle disruptions of this pathway could contribute to isolated CDH etiology. Here we used time series of normal and CDH lungs in humans, in nitrofen-exposed rats, and in surgically induced hernia in rabbits to perform a systematic transcriptional analysis of the RA pathway key components. The results point to CRPBP2, CY26B1, and ALDH1A2 as deregulated RA signaling genes in human CDH. Furthermore, the expression profile comparisons suggest that ALDH1A2 overexpression is not a primary event, but rather a consequence of the CDH-induced lung injury. Taken together, these data show that RA signaling disruption is part of CDH pathogenesis, and also that dysregulation of this pathway should be considered organ specifically. PMID:25416379

  6. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran


    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.

  7. Genetic engineering compared to natural genetic variations. (United States)

    Arber, Werner


    By comparing strategies of genetic alterations introduced in genetic engineering with spontaneously occurring genetic variation, we have come to conclude that both processes depend on several distinct and specific molecular mechanisms. These mechanisms can be attributed, with regard to their evolutionary impact, to three different strategies of genetic variation. These are local nucleotide sequence changes, intragenomic rearrangement of DNA segments and the acquisition of a foreign DNA segment by horizontal gene transfer. Both the strategies followed in genetic engineering and the amounts of DNA sequences thereby involved are identical to, or at least very comparable with, those involved in natural genetic variation. Therefore, conjectural risks of genetic engineering must be of the same order as those for natural biological evolution and for conventional breeding methods. These risks are known to be quite low. There is no scientific reason to assume special long-term risks for GM crops. For future agricultural developments, a road map is designed that can be expected to lead, by a combination of genetic engineering and conventional plant breeding, to crops that can insure food security and eliminate malnutrition and hunger for the entire human population on our planet. Public-private partnerships should be formed with the mission to reach the set goals in the coming decades. Copyright © 2010 Elsevier B.V. All rights reserved.

  8. Genetic Testing for ALS (United States)

    ... In Your Community Advocate Get Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor Familial ALS Most of the time ALS is not inherited. ...

  9. Prenatal Genetic Testing Chart (United States)

    ... Management Education & Events Advocacy For Patients About ACOG Prenatal Genetic Testing Chart (Infographic) Home For Patients Search FAQs Prenatal Genetic Testing Chart (Infographic) PFSI010 ››› Weeks 1–4 ...

  10. Genetics Home Reference: trimethylaminuria (United States)

    ... life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of ... information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  11. Regulation of Genetic Tests (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  12. Genetics and Man (United States)

    Carter, C. O.


    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  13. Genetics Home Reference: SADDAN (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  14. Genetic Science Learning Center (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  15. Prenatal screening and genetics

    DEFF Research Database (Denmark)

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


    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...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  16. Genetics and the Brain (United States)

    ... Find us on YouTube Follow us on Instagram Genetics and the Brain by Carl Sherman September 10, ... effects that may be responsible. How Much Is Genetic? [x] , [xi] , [xii] , [xiii] A basic question in ...

  17. Genetically engineered foods (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 ...

  18. Genetic Disease Foundation (United States)

    ... has partnered with the Department of Genetics and Genomic Sciences at Mount Sinai in New York City, one ... affiliation with Mount Sinai’s Department of Genetics and Genomic Sciences, we can help connect you with world-class ...

  19. Genetic Brain Disorders (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 ...

  20. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  1. Genetics Home Reference: preeclampsia (United States)

    ... the mother can cause bleeding in the brain ( hemorrhagic stroke ). The effects of high blood pressure on the ... Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...

  2. Behavioral genetics and taste

    Directory of Open Access Journals (Sweden)

    Bachmanov Alexander A


    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.

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

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

    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

  4. Psychiatric genetics:AJP

    African Journals Online (AJOL)


    Keywords: Bipolar disorder; Obsessive-compulsive disorder; Pharmacogenetics; Psychiatric genetics; Schizophrenia; South African .... A family-based genetic study that examines the co-segregation of the phenotype of interest with genetic markers to identify ..... gene and the Alzheimer's disease-related ε4 allele of the.

  5. Medical genetics in Japan. (United States)

    Matsuo, M


    In Japan genetic diseases are getting more popular in medicine, because of increased awareness of the role of genetic determinants of diseases. Care for patients with inherited disease is one of the current big problems. In this review, programs developed to support Duchenne muscular dystrophy patients are described as an example of medical services available for genetic diseases in Japan.

  6. Phenylketonuria Genetic Screening Simulation (United States)

    Erickson, Patti


    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  7. Journal of Genetics | News

    Indian Academy of Sciences (India)

    We analysed the relative roles of selection and genetic drift in maintaining genetic variation in laboratory populations of Drosophila. We suggest that rare, favourable genetic variants in our laboratory populations have a high chance of being lost if their fitness effect is weak, e.g. 1% or less. However, if the fitness effect of this ...

  8. Genetics of complex disorders. (United States)

    Kere, Juha


    The success stories of identifying genes in Mendelian disorders have stimulated research that aims at identifying the genetic determinants in complex disorders, in which both genetics, environment and chance affect the pathogenetic processes. This review summarizes the brief history and lessons learned from genetic analysis of complex disorders and outlines some landscapes ahead for medical research. 2010. Published by Elsevier Inc.

  9. Statistics for Learning Genetics (United States)

    Charles, Abigail Sheena


    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…

  10. Genetics Home Reference: genetic epilepsy with febrile seizures plus (United States)

    ... Health Conditions Genetic epilepsy with febrile seizures plus Genetic epilepsy with febrile seizures plus Printable PDF Open ... 2017 May 2. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  11. Feline genetics: clinical applications and genetic testing. (United States)

    Lyons, Leslie A


    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. Copyright © 2010 Elsevier Inc. All rights reserved.

  12. Genetics: modes of reproduction and genetic analysis. (United States)

    Streit, Adrian


    Classical and reverse genetics remain invaluable tools for the scientific investigation of model organisms. Genetic analysis of endoparasites is generally difficult because the sexual adults required for crossing and other manipulations are usually hidden within their host. Strongyloides spp. and Parastrongyloides spp. are notable exceptions to this and their free-living adults offer unique opportunities to manipulate these parasites experimentally. Here I review the modes of inheritance in the two generations of Strongyloides/Parastrongyloides and I discuss the opportunities and the limitations of the currently available methodology for the genetic analysis of these two genera.

  13. Massively Parallel Genetics. (United States)

    Shendure, Jay; Fields, Stanley


    Human genetics has historically depended on the identification of individuals whose natural genetic variation underlies an observable trait or disease risk. Here we argue that new technologies now augment this historical approach by allowing the use of massively parallel assays in model systems to measure the functional effects of genetic variation in many human genes. These studies will help establish the disease risk of both observed and potential genetic variants and to overcome the problem of "variants of uncertain significance." Copyright © 2016 by the Genetics Society of America.

  14. How Is Genetic Testing Done? (United States)

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

  15. Genetics Home Reference: hereditary hyperekplexia (United States)

    ... the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants ... Genetic Testing (5 links) Genetic Testing Registry: Early infantile epileptic encephalopathy 8 Genetic Testing Registry: Hyperekplexia Genetic ...

  16. BPA genetic monitoring - BPA Genetic Monitoring Project (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...

  17. Synthetic Genetic Arrays: Automation of Yeast Genetics. (United States)

    Kuzmin, Elena; Costanzo, Michael; Andrews, Brenda; Boone, Charles


    Genome-sequencing efforts have led to great strides in the annotation of protein-coding genes and other genomic elements. The current challenge is to understand the functional role of each gene and how genes work together to modulate cellular processes. Genetic interactions define phenotypic relationships between genes and reveal the functional organization of a cell. Synthetic genetic array (SGA) methodology automates yeast genetics and enables large-scale and systematic mapping of genetic interaction networks in the budding yeast,Saccharomyces cerevisiae SGA facilitates construction of an output array of double mutants from an input array of single mutants through a series of replica pinning steps. Subsequent analysis of genetic interactions from SGA-derived mutants relies on accurate quantification of colony size, which serves as a proxy for fitness. Since its development, SGA has given rise to a variety of other experimental approaches for functional profiling of the yeast genome and has been applied in a multitude of other contexts, such as genome-wide screens for synthetic dosage lethality and integration with high-content screening for systematic assessment of morphology defects. SGA-like strategies can also be implemented similarly in a number of other cell types and organisms, includingSchizosaccharomyces pombe,Escherichia coli, Caenorhabditis elegans, and human cancer cell lines. The genetic networks emerging from these studies not only generate functional wiring diagrams but may also play a key role in our understanding of the complex relationship between genotype and phenotype. © 2016 Cold Spring Harbor Laboratory Press.

  18. Molecular Population Genetics. (United States)

    Casillas, Sònia; Barbadilla, Antonio


    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. Copyright © 2017 Casillas and Barbadilla.

  19. Molecular Population Genetics (United States)

    Casillas, Sònia; Barbadilla, Antonio


    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

  20. Genetic Insights into Schizophrenia (United States)

    Bassett, Anne S; Chow, Eva WC; Waterworth, Dawn M; Brzustowicz, Linda


    Objective To outline new insights into the genetic etiology of schizophrenia. Methods We discuss several commonly held beliefs about the genetic issues in schizophrenia. Results The complex genetic nature of the illness poses a challenge for investigators seeking causative genetic mutations. Multiple independent research findings are, however converging to identify a relatively small number of chromosomal locations that appear to contain schizophrenia susceptibility genes. Also, a clinically relevant genetic subtype of schizophrenia (22qDS) has been identified. We are developing a better understanding of how schizophrenia relates to other psychiatric disorders. While investigations into the possible roles of dopaminergic and serotonergic systems continue, other approaches that do not require theories of the mechanism of illness are also being used to identify candidate susceptibility genes. Conclusions Research to date suggests that our understanding of the pathophysiology of schizophrenia will soon be fundamentally altered by genetic approaches to this complex disease. PMID:11280081

  1. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic


    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.

  2. Caging and Uncaging Genetics.

    Directory of Open Access Journals (Sweden)

    Tom J Little


    Full Text Available It is important for biology to understand if observations made in highly reductionist laboratory settings generalise to harsh and noisy natural environments in which genetic variation is sorted to produce adaptation. But what do we learn by studying, in the laboratory, a genetically diverse population that mirrors the wild? What is the best design for studying genetic variation? When should we consider it at all? The right experimental approach depends on what you want to know.

  3. The genetics of keratoconus


    Dorota M Nowak; Marzena Gajecka


    Keratoconus (KTCN) is non-inflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive error, and decreased vision. Keratoconus is a complex condition of multifactorial etiology. Both genetic and environmental factors are associated with KTCN. Evidence of genetic etiology includes familial inheritance, discordance between dizygotic twins, and association with other known genetic disorders. Several loci responsible for ...

  4. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels


    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....

  5. Genetics of complex diseases

    DEFF Research Database (Denmark)

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


    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...

  6. Judaism, genetic screening and genetic therapy. (United States)

    Rosner, F


    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

  7. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  8. Genetics Home Reference: osteoarthritis (United States)

    ... the risk of other health conditions such as cardiovascular disease. Osteoarthritis is most common in middle age or ... to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Osteoarthritis is a very common ...

  9. The genetics of keratoconus. (United States)

    Chang, Han-Ying Peggy; Chodosh, James


    Keratoconus is a bilateral, non-inflammatory corneal ectasia characterized by progressive conical thinning and protrusion of the cornea. Its etiology has long been believed to be multifactorial, with environmental, behavioral, and genetic factors all contributing to the disease process. This review focuses specifically on examining the evidence that supports a genetic basis for keratoconus.

  10. Genetic Engineering of Insects

    Indian Academy of Sciences (India)

    management, vector management in public health, produc- tion of medically important proteins and genetic improve- ment of beneficial insects like parasitoids, predators, silk worm and honey bee. The proposed release of genetically engineered insects is evoking serious debate among research- ers and environmental ...

  11. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan


    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

  12. Quo Vadis, Medical Genetics? (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.

  13. Genetic Counseling for Hearing Loss. (United States)

    Arnos, Kathleen S.


    This article addresses epidemiologic and demographic characteristics of hereditary hearing loss and genetic evaluation and counseling. It discusses who should have genetic counseling, the genetic counseling process, and effects of genetics technology on the genetic counseling process. A case study of a 2-year-old with severe sensorineural hearing…

  14. The reproductive genetics

    Directory of Open Access Journals (Sweden)

    Xavier Vendrell


    Full Text Available The development of Genetics is closely related with the assisted reproduction technologies from its beginnings at early 1970s. Very high quantities of genetic tests have been developed for couples. These tests allow stablishing the genetic risk, the diagnosis or the reproductive prognosis depending on the couple. The tests are designed to women, men or preimplantation embryos generated by in-vitro fertilization techniques. This paper aims to review the different studies that are currently available to future parents. The establishment of infertility causes is crucial in order to indicate proper treatments. Furthermore, the estimation of genetic risk is decisive to avoid serious disorders in the offspring. In this context, the preconception genetic counselling is extremely important and should be available to patients.

  15. Genetics of aggression. (United States)

    Anholt, Robert R H; Mackay, Trudy F C


    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  16. Genetic improvement of vegetables

    International Nuclear Information System (INIS)

    Jaramillo Vasquez, J.G.


    Some genetic bases of the improvement of vegetables are given. The objectives of the genetic improvement and the fundamental stages of this process are done. The sources of genetic variation are indicated and they are related the reproduction systems of the main horticultural species. It is analyzed the concept of genetic inheritance like base to determine the procedures more appropriate of improvement. The approaches are discussed, has more than enough phenotypic value, genetic action and genotypic variance; Equally the heredability concepts and value of improvement. The conventional methods of improvement are described, like they are: the introduction of species or varieties, the selection, the pure line, the pedigree method, the selection for families, the recurrent selection, the selection for unique seed, the haploids method, the selection for heterosis and the synthetic varieties

  17. Genetics Home Reference: Farber lipogranulomatosis (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  18. Molecular genetics in aquaculture

    Directory of Open Access Journals (Sweden)

    Liliana Di Stasio


    Full Text Available Great advances in molecular genetics have deeply changed the way of doing research in aquaculture, as it has already done in other fields. The molecular revolution started in the 1980’s, thanks to the widespread use of restriction enzymes and Polymerase Chain Reaction technology, which makes it possible to easily detect the genetic variability directly at the DNA level. In aquaculture, the molecular data are used for several purposes, which can be clustered into two main groups. The first one, focused on individuals, includes the sex identification and parentage assignment, while the second one, focused on populations, includes the wide area of the genetic characterization, aimed at solving taxonomic uncertainties, preserving genetic biodiversity and detecting genetic tags. For the future, the increase in the number of molecular markers and the construction of high density genetic maps, as well as the implementation of genomic resources (including genome sequencing, are expected to provide tools for the genetic improvement of aquaculture species through Marked Assisted Selection. In this review the characteristics of different types of molecular markers, along with their applications to a variety of aquaculture issues are presented.

  19. Conservation genetics of Iberian raptors


    Martínez-Cruz, Begoña


    [EN] In this paper I provide an overview of conservation genetics and describe the management actions in the wild that can benefit from conservation genetic studies. I describe the genetic factors of risk for the survival of wild species, the consequences of loss of genetic diversity, inbreeding and outbreeding depression, and the use of genetic tools to delimitate units of conservation. Then I introduce the most common applications of conservation genetics in the management of wild populatio...

  20. Genetic causes of bronchiectasis. (United States)

    Gould, Christine M; Freeman, Alexandra F; Olivier, Kenneth N


    Our understanding of the pathologic cycle leading to the development of bronchiectasis is enhanced by greater understanding of the genetic influences contributing to its development. Genome-wide linkage analysis, family-based genetic linkage studies, and the testing of candidate genes have all greatly advanced our understanding of the complexity of the genetic basis of bronchiectasis. This article discusses how allelic variations, gene modifiers, HLA associations, and the interplay of developmental, host, and environmental factors all contribute in lesser and greater degrees, depending on the specific disease, toward the development of bronchiectasis in a spectrum of disease processes. Published by Elsevier Inc.

  1. Genetics of dispersal (United States)

    Bocedi, Greta; Cote, Julien; Legrand, Delphine; Guillaume, Frédéric; Wheat, Christopher W.; Fronhofer, Emanuel A.; Garcia, Cristina; Henry, Roslyn; Husby, Arild; Baguette, Michel; Bonte, Dries; Coulon, Aurélie; Kokko, Hanna; Matthysen, Erik; Niitepõld, Kristjan; Nonaka, Etsuko; Stevens, Virginie M.; Travis, Justin M. J.; Donohue, Kathleen; Bullock, James M.; del Mar Delgado, Maria


    ABSTRACT Dispersal is a process of central importance for the ecological and evolutionary dynamics of populations and communities, because of its diverse consequences for gene flow and demography. It is subject to evolutionary change, which begs the question, what is the genetic basis of this potentially complex trait? To address this question, we (i) review the empirical literature on the genetic basis of dispersal, (ii) explore how theoretical investigations of the evolution of dispersal have represented the genetics of dispersal, and (iii) discuss how the genetic basis of dispersal influences theoretical predictions of the evolution of dispersal and potential consequences. Dispersal has a detectable genetic basis in many organisms, from bacteria to plants and animals. Generally, there is evidence for significant genetic variation for dispersal or dispersal‐related phenotypes or evidence for the micro‐evolution of dispersal in natural populations. Dispersal is typically the outcome of several interacting traits, and this complexity is reflected in its genetic architecture: while some genes of moderate to large effect can influence certain aspects of dispersal, dispersal traits are typically polygenic. Correlations among dispersal traits as well as between dispersal traits and other traits under selection are common, and the genetic basis of dispersal can be highly environment‐dependent. By contrast, models have historically considered a highly simplified genetic architecture of dispersal. It is only recently that models have started to consider multiple loci influencing dispersal, as well as non‐additive effects such as dominance and epistasis, showing that the genetic basis of dispersal can influence evolutionary rates and outcomes, especially under non‐equilibrium conditions. For example, the number of loci controlling dispersal can influence projected rates of dispersal evolution during range shifts and corresponding demographic impacts

  2. Genetically Engineered Cyanobacteria (United States)

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


    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.

  3. Ashkenazi Jewish genetic disorders. (United States)

    Charrow, Joel


    The frequency of several genes responsible for 'single-gene' disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than heterozygote advantage. The more common Mendelian Ashkenazi Jewish genetic disorders are summarized, and examples of variable expressivity and penetrance, inconsistent genotype-phenotype correlation, and potential modifiers are presented. The importance of genetic counseling in both the pre- and post-test phases of population screening is emphasized.

  4. Genetics Home Reference: Glanzmann thrombasthenia (United States)

    ... those of Romani ethnicity, particularly people within the French Manouche community. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  5. Genetics and Genetic Testing in Pancreatic Cancer. (United States)

    Whitcomb, David C; Shelton, Celeste A; Brand, Randall E


    Genetic testing of germline DNA is used in patients suspected of being at risk of pancreatic ductal adenocarcinoma (PDAC) to better define the individual's risk and to determine the mechanism of risk. A high genetic risk increases the pretest probability that a biomarker of early cancer is a true positive and warrants further investigation. The highest PDAC risk is generally associated with a hereditary predisposition. However, the majority of PDAC results from complex, progressive gene-environment interactions that currently fall outside the traditional risk models. Over many years, the combination of inflammation, exposure to DNA-damaging toxins, and failed DNA repair promote the accumulation of somatic mutations in pancreatic cells; PDAC risk is further increased by already present oncogenic germline mutations. Predictive models and new technologies are needed to classify patients into more accurate and mechanistic PDAC risk categories that can be linked to improved surveillance and preventative strategies. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

  6. Algebraic isotopy in genetics. (United States)

    Campos, T M; Holgate, P


    It is shown that many of the algebras arising in nonselective genetics are isotopes of the algebras for particularly simple systems of inheritance. Moreover, interesting aspects of the structure are preserved under the relevant isotopies.

  7. Genetics of Diabetes (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 ...

  8. Genetics Home Reference: abetalipoproteinemia (United States)

    ... speech (dysarthria), tremors or other involuntary movements (motor tics), a loss of sensation in the extremities (peripheral ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  9. Genetics Home Reference: hypermethioninemia (United States)

    ... in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  10. Genetic Testing (For Parents) (United States)

    ... many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but ...

  11. Review of genetic concepts

    International Nuclear Information System (INIS)

    Robinson, A.


    In recent years, practitioners of medicine have become increasingly aware of the importance of genetics in the understanding of physical and mental health and in the management of disease. The last decades have witnessed unprecedented developments in genetics that have increased our understanding of the basic processes of heredity enormously. New techniques and understanding have provided insights directly applicable to medicine. The fundamental fact of heredity may be considered the ability of living organisms to produce offspring that resemble their parents more than others. One of the basic characteristics of the human condition is the uniqueness and diversity of all individuals. This results from their genetic individuality (with the exception of identical twins) and the interaction of the genetic constitution (the genome) with the environment, which is generally unique to the individual as well. In short, the interaction of genes with the environment is what confers biologic uniqueness to all humans

  12. Genetics Home Reference: adermatoglyphia (United States)

    ... individuals have had difficulty entering countries that require fingerprinting for identification. In some families, adermatoglyphia occurs without ... Genetics Home Reference Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns ...

  13. Genetics Home Reference: piebaldism (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  14. Genetics Home Reference: homocystinuria (United States)

    ... common form of homocystinuria is characterized by nearsightedness ( myopia ), dislocation of the lens at the front of ... reductase deficiency Orphanet: Homocystinuria without methylmalonic aciduria Screening, Technology, and Research in Genetics Virginia Department of Health ( ...

  15. Genetics of osteoarthritis. (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio


    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  16. Genetics Home Reference: microphthalmia (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... COLOBOMA 9 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY Sources for ...

  17. Genetic Sample Inventory (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,...

  18. Genetics Home Reference: leprosy (United States)

    ... 2 links) Encyclopedia: Leprosy Health Topic: Mycobacterial Infections Genetic and Rare Diseases Information Center (1 link) Hansen's disease Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases (NIAID): Leprosy (Hansen's Disease) Educational Resources (8 ...

  19. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

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


    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...

  20. [The genetics of addictions]. (United States)

    Ibañez Cuadrado, Angela


    The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

  1. Genetics Home Reference: coloboma (United States)

    ... 447-70. Review. Citation on PubMed Gongal PA, French CR, Waskiewicz AJ. Aberrant forebrain signaling during early ... 3):191-7. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  2. Genetics and You (United States)

    ... of a syndrome. Chromosome testing looks at the packaging of the genetic information, not the genes themselves. ... cleft lip) have the cleft as their only structural difference. When seen in isolation, cleft palate alone ...

  3. Genetics for the ophthalmologist. (United States)

    Sadagopan, Karthikeyan A; Capasso, Jenina; Levin, Alex V


    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.

  4. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan


    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.

  5. Preimplantation genetic diagnosis. (United States)

    Black, S H


    Preimplantation genetic diagnosis now represents an alternative reproductive option for parents at high risk of having offspring affected with certain genetic diseases. Progress in the past year has included increasing reliability in embryo sexing by both polymerase chain reaction and fluorescent in situ hybridization techniques; delivery of babies free of specific diseases such as cystic fibrosis, Lesch-Nyhan syndrome, and Tay-Sachs disease; and successful development of molecular techniques for detecting common diseases such as fragile-X syndrome. In addition, sperm separation in combination with preimplantation genetic diagnosis appears to be an exciting advance in yielding more in vitro fertilization female embryos for transfer and subsequent pregnancy in families at risk for X-linked diseases. Accumulated world experience can now be reviewed to provide couples considering preimplantation genetic diagnosis with observed pregnancy rates and accuracy of diagnosis.

  6. LSD and Genetic Damage (United States)

    Dishotsky, Norman I.; And Others


    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)

  7. Genetic Predisposition to Rosacea. (United States)

    Awosika, Olabola; Oussedik, Elias


    Rosacea is a common inflammatory skin disease with a multifaceted pathophysiology, including environmental stressors and neurovascular and immune dysfunction affected by the presence of pathogens. The genetic component of this disorder is not well understood. However, a possible genetic origin in Northern European descendants, family inheritance, twin concordance, and genetic associations with autoimmune disorders attest the genetic predisposition to rosacea. Currently, one single-nucleotide polymorphism has been identified in association with rosacea and is intergenic between HLA-DRA and BTNL2. Additional associations with HLA alleles and immune-mediated disorders support the role of immune-regulating genes and innate and adaptive immunity in rosacea. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Genetics Home Reference: hypercholesterolemia (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  9. Christianity, health, and genetics. (United States)

    Smith, David H


    Health is an intrinsic value that Christians should respect, but it is not the highest value. Christians should be willing to jeopardize their own health for the health of others, and should repudiate any idea that genetic problems are the result of sin. Rather, sin leads us to make genetic problems harder to live with than they should be. (c) 2009 Wiley-Liss, Inc.

  10. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F


    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....

  11. Genetics and developmental biology

    International Nuclear Information System (INIS)

    Barnett, W.E.


    Progress is reported on research activities in the fields of mutagenesis in Haemophilus influenzae and Escherichia coli; radioinduced chromosomal aberrations in mammalian germ cells; effects of uv radiation on xeroderma pigmentosum skin cells; mutations in Chinese hamster ovary cells; radioinduced hemoglobin variants in the mouse; analysis of mutants in yeast; Drosophila genetics; biochemical genetics of Neurospora; DNA polymerase activity in Xenopus laevis oocytes; uv-induced damage in Bacillus subtilis; and others

  12. Missing persons genetic identification

    Directory of Open Access Journals (Sweden)

    Matija Bajželj


    Full Text Available This article presents identification of missing persons from badly preserved post-mortem remains using molecular genetics methods. Extremely polymorphic and individually specific genetic markers that enable the identification of missing persons are microsatellites on autosomal chromosomes, microsatellites on Y chromosome and control region of mitochondrial DNA. For genetic profile comparison, biological material from post-mortem remains and reference samples have to be collected. If post-mortem remains are found shortly after the presumed death of the missing person, their personal items are used for comparison. If these are not available, (the missing person‘s relatives could be used as reference samples or achieved tissues stored in medical institutions if biopsy for the needs of medical diagnostics was performed earlier during their life. When reference samples are not available, genetic identification is not possible. The type of biological material sampled from the deceased depends on the condition of human remains. Blood, soft tissues, nails, teeth or bones are most commonly used for genetic identification, and the time required for DNA extraction depends on the type of biological material. The most demanding and time consuming is extraction of DNA from teeth and bones, therefore we use it in cases when only skeleton is available or we cannot get a sufficient amount of DNA for genetic identification from other tissues. If the genetic profile of post-mortem reamains and a reference sample of the missing person match, the strength of genetic evidence has to be statistically evaluated and the probability of identification reported.

  13. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura


    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....

  14. Primer on molecular genetics

    Energy Technology Data Exchange (ETDEWEB)


    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.

  15. Human hemoglobin genetics

    Energy Technology Data Exchange (ETDEWEB)

    Honig, G.R.; Adams, J.G.


    This book contains the following 10 chapters: Introduction; The Human Hemoglobins; The Human Globin Genes; Hemoglobin Synthesis and Globin Gene Expression; The Globin Gene Mutations - A. Mechanisms and Classification; The Globin Gene Mutations - B. Their Phenotypes and Clinical Expression; The Genetics of the Human Globin Gene Loci: Formal Genetics and Gene Linkage; The Geographic Distribution of Globin Gene Variation; Labortory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias; and Approaches to the Treatment of the Hemoglobin Disorders.

  16. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B


    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

  17. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)


    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  18. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem


    Nov 15, 2013 ... The definition of formal genetics is still a matter of contention. However, it can be defined as a branch of basic genetics con- cerned with deducing and figuring out relevant genetic data from constructed figures that contain specific genetic informa- tion. These informative figures include, for instance, con-.

  19. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore (United States)

    Salk, Rachel H.; Hyde, Janet S.


    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…

  20. Genetics & sport: bioethical concerns. (United States)

    Miah, Andy


    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.

  1. What was classical genetics? (United States)

    Waters, C Kenneth


    I present an account of classical genetics to challenge theory-biased approaches in the philosophy of science. Philosophers typically assume that scientific knowledge is ultimately structured by explanatory reasoning and that research programs in well-established sciences are organized around efforts to fill out a central theory and extend its explanatory range. In the case of classical genetics, philosophers assume that the knowledge was structured by T. H. Morgan's theory of transmission and that research throughout the later 1920s, 30s, and 40s was organized around efforts to further validate, develop, and extend this theory, I show that classical genetics was structured by an integration of explanatory reasoning (associated with the transmission theory) and investigative strategies (such as the 'genetic approach'). The investigative strategies, which have been overlooked in historical and philosophical accounts, were as important as the so-called laws of Mendelian genetics. By the later 1920s, geneticists of the Morgan school were no longer organizing research around the goal of explaining inheritance patterns; rather, they were using genetics to investigate a range of biological phenomena that extended well beyond the explanatory domain of transmission theories. Theory-biased approaches in history and philosophy of science fail to reveal the overall structure of scientific knowledge and obscure the way it functions.

  2. Genetic and environmental interactions

    International Nuclear Information System (INIS)

    Strong, L.C.


    Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

  3. 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.


    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

  4. Prenatal Genetic Counseling (For Parents) (United States)

    ... Safe Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  5. [Genetic aspects of genealogy]. (United States)

    Tetushkin, E Iu


    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. Genetics and educational psychology. (United States)

    Plomin, Robert; Walker, Sheila O


    Molecular genetics, one of the most energetic and exciting areas of science, is slowly but surely coming to educational psychology. We review recent molecular genetic research on learning disabilities as a sign of things to come in educational psychology. We also consider some misconceptions about genetics that have slowed the acceptance of genetics in educational psychology. Diverse samples of children with learning disabilities have been studied, primarily in the UK and the USA. Linkage analysis can detect genes that have large effects on learning disabilities. Association analysis can detect genes of much smaller effect size, which is important because common disorders such as learning disabilities are likely to be influenced by many genes as well as by many environmental factors. For reading disability, replicated linkages have been identified on chromosomes 6, 15 and 18. A gene responsible for a rare type of language impairment has recently been identified. For common language impairment, linkages on chromosomes 16 and 19 have recently been reported. More than 200 genetic disorders, most extremely rare, include mental retardation among their symptoms, and chromosomal abnormalities are a major cause of mental retardation. Although finding specific genes associated with learning disabilities is unlikely to have much of a direct application for teachers in the classroom, such findings will have far-reaching implications for diagnosis, treatment and prevention of learning disabilities and for research in educational psychology. Educational psychology has been slower to accept evidence for the importance of genetics than other areas of psychology in part because of misconceptions about what it means to say that genetics is important for common complex disorders such as learning disabilities.

  7. Genetics of osteoporotic fracture

    Directory of Open Access Journals (Sweden)

    Chuan Qiu


    Full Text Available Chuan Qiu1,2, Christopher J Papasian2, Hong-Wen Deng1,2,3,4, Hui Shen1,21Center for Bioinformatics and Genomics, Department of Biostatistics and Bioinformatics, School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana, USA; 2Department of Basic Medical Sciences, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA; 3Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, China; 4Molecular and Statistical Genetics Lab, College of Life Sciences, Hunan Normal University, Changsha, ChinaAbstract: Osteoporosis is a major public health problem that results in a massive burden to patients and society through associated low-trauma, osteoporotic fractures. Previous studies have shown that osteoporosis-associated traits, such as low bone mineral density, as well as the probability of actually experiencing an osteoporotic fracture, are under strong genetic control. Susceptibility to osteoporosis and osteoporotic fractures is likely to be controlled by multiple genetic and environmental factors, and by interactions between them. Although numerous genetic studies, mainly candidate gene association studies, have attempted to decipher the genetic basis for osteoporosis and osteoporotic fractures, little success has been achieved. Recent advances in high-throughput genotyping technology and knowledge of common human genetic variants have shifted the approach for studying human complex disorders from candidate gene studies to large-scale genome-wide association studies. In the past three years, more than 10 genome-wide association studies have been carried out for osteoporosis. A number of genes that are associated with osteoporosis-related traits, and/or with the probability of actually experiencing an osteoporotic fracture, have been successfully identified and replicated through these studies. In this article, we review the recent progress in the genetics

  8. Genetics of human hydrocephalus (United States)

    Williams, Michael A.; Rigamonti, Daniele


    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  9. Genetics of bipolar disorder. (United States)

    Kerner, Berit


    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 currently not fulfilled for common genomic variants in psychiatric disorders. Further work is clearly needed before genetic testing for common variants in

  10. The Genetics of Eating Disorders


    Berrettini, Wade


    The eating disorders anorexia nervosa and bulimia nervosa traditionally have been viewed as sociocultural in origin. However, recent behavioral genetic findings suggest substantial genetic influence on these disorders. Molecular genetic research of these disorders is in its infancy, but initial results are promising. This article reviews findings from family, twin, and molecular genetic studies that support substantial genetic influences on disordered eating and highlights additional areas fo...

  11. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A


    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  12. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B


    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

  13. [Genetics of bipolar disorder]. (United States)

    Budde, M; Forstner, A J; Adorjan, K; Schaupp, S K; Nöthen, M M; Schulze, T G


    Bipolar disorder (BD) has a multifactorial etiology. Its development is influenced by genetic as well as environmental factors. Large genome-wide association studies (GWAS), in which genetic risk allelic variants for the disorder could be replicated for the first time, marked the breakthrough in the identification of the responsible risk genes. In addition to these common genetic variants with moderate effects identified by GWAS, rare variants with a higher penetrance are expected to play a role in disease development. The results of recent studies suggest that copy number variants might contribute to BD development, although to a lesser extent than in other psychiatric disorders, such as schizophrenia or autism. Results from the initial next generation sequencing studies indicate an enrichment of rare variants in pathways and genes that were previously found to be associated with BD. In the field of pharmacogenetics, a risk gene that influences the individual variance in the response to lithium treatment was identified for the first time in a recent large international GWAS. Currently the reported risk alleles do not sufficiently explain the phenotypic variance to be used for individual prediction of disease risk, disease course or response to medication. Future genetic research will provide important insights into the biological basis of BD by the identification of additional genes associated with BD. This knowledge of genetics will help identify potential etiological subgroups as well as cross-diagnostic disease mechanisms.

  14. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.


    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  15. Genetics of fibromyalgia. (United States)

    Buskila, Dan; Neumann, Lily


    The pathogenesis of fibromyalgia (FM) and related conditions is not entirely understood. Recent evidence suggests that these syndromes may share heritable pathophysiologic features. Familial studies suggest that genetic and familial factors may play a role in the etiopathogenesis of these conditions. There is evidence that polymorphisms of genes in the serotoninergic and catecholaminergic systems are linked to the pathophysiology of FM and related conditions and are associated with personality traits. The precise role of genetic factors in the etiopathology of FM remains unknown, but it is likely that several genes are operating together to initiate this syndrome. Larger longitudinal studies are needed to better clarify the role of genetics in the development of FM.

  16. Imposing genetic diversity. (United States)

    Sparrow, Robert


    The idea that a world in which everyone was born "perfect" would be a world in which something valuable was missing often comes up in debates about the ethics of technologies of prenatal testing and preimplantation genetic diagnosis (PGD). This thought plays an important role in the "disability critique" of prenatal testing. However, the idea that human genetic variation is an important good with significant benefits for society at large is also embraced by a wide range of figures writing in the bioethics literature, including some who are notoriously hostile to the idea that we should not select against disability. By developing a number of thought experiments wherein we are to contemplate increasing genetic diversity from a lower baseline in order to secure this value, I argue that this powerful intuition is more problematic than is generally recognized, especially where the price of diversity is the well-being of particular individuals.

  17. Whakapapa, genealogy and genetics. (United States)

    Evans, Donald


    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. © 2010 Blackwell Publishing Ltd.

  18. Genetics of diabetic nephropathy

    DEFF Research Database (Denmark)

    Parving, H H; Tarnow, L; Rossing, P


    of diabetic nephropathy is multifactorial, with contributions from metabolic abnormalities, hemodynamic alterations, and various growth factors and genetic factors. Epidemiologic and family studies have demonstrated that only a subset of the patients develop this complication that family clustering...... of nephropathy is present, and that ethnicity plays an important role in the risk of developing this kidney disease. Short stature and low birth weight are both associated with increased risk of developing diabetic nephropathy, supporting the hypothesis that genetic predisposition or factors operating in utero...... nephropathy have yielded conflicting results. Recently, studies of genetic markers involved in the regulation of blood pressure and levels of cardiovascular risk factors have been conducted. Several studies have demonstrated that the deletion polymorphism in the angiotensin-I-converting enzyme acts as a risk...

  19. Genetic Programming of Hypertension

    Directory of Open Access Journals (Sweden)

    Sun-Young Ahn


    Full Text Available The heritability of hypertension (HTN is widely recognized and as a result, extensive studies ranging from genetic linkage analyses to genome-wide association studies are actively ongoing to elucidate the etiology of both monogenic and polygenic forms of HTN. Due to the complex nature of essential HTN, however, single genes affecting blood pressure (BP variability remain difficult to isolate and identify and have rendered the development of single-gene targeted therapies challenging. The roles of other causative factors in modulating BP, such as gene–environment interactions and epigenetic factors, are increasingly being brought to the forefront. In this review, we discuss the various monogenic HTN syndromes and corresponding pathophysiologic mechanisms, the different methodologies employed in genetic studies of essential HTN, the mechanisms for epigenetic modulation of essential HTN, pharmacogenomics and HTN, and finally, recent advances in genetic studies of essential HTN in the pediatric population.

  20. Genetic predisposition to cancer. (United States)

    Turnbull, Clare; Hodgson, Shirley


    Over recent decades a number of genes causing predisposition to cancer have been identified. Some of these cause rare autosomal dominant monogenic cancer predisposition syndromes. In the majority of families, the increased incidence of cancers is due to a multifactorial aetiology with a number of lower penetrance cancer predisposition genes interacting with environmental factors. Identification of those at increased risk of cancer on account of their family history is important, as genetic testing, enhanced surveillance, prophylactic surgery and chemoprophylaxis may be indicated. In this article the issues surrounding genetic predisposition to cancer are considered by examining two common cancers: colorectal and breast cancer.

  1. Genetically engineered yeast

    DEFF Research Database (Denmark)


    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...

  2. Genetics and caries: prospects

    Directory of Open Access Journals (Sweden)

    Alexandre Rezende Vieira


    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.

  3. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

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


    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...

  4. Journal of Genetics

    Indian Academy of Sciences (India)


    mismatch distribution, Tajma D and Fu's Fs analysis suggested a genetic bottleneck events or founder .... Pacific salmon (Carvalho and Hauser, 1994); mangrove snapper (Ovenden and Street 2003) and. 56. Lutjanus ...... red snapper (Lutjanus campechanus) from the Gulf of Mexico and Atlantic coast of. 308. Florida as ...

  5. Genetically Engineering Entomopathogenic Fungi. (United States)

    Zhao, H; Lovett, B; Fang, W


    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. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. The genetics of Tamarix (United States)

    Genetic studies have helped us gain basic knowledge of the Tamarix invasion. We now have a better understanding of the species identities involved in the invasion, their evolutionary relationships, and the contribution of hybridization to the invasion. This information can be used to enhance the eff...

  7. Genetic Testing Registry (United States)

    ... Expression Omnibus (GEO) Datasets Gene Expression Omnibus (GEO) Profiles Genome Workbench HomoloGene Online Mendelian Inheritance in Man (OMIM) RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) ...

  8. Genetic risks from radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    Two widely-recognized committees, UNSCEAR and BEIR, have reevaluated their estimates of genetic risks from radiation. Their estimates for gene mutations are based on two different approaches, one being the doubling-dose approach and the other being a new direct approach based on an empirical determination of the amount of dominant induced damage in the skeletons of mice in the first generation following irradiation. The estimates made by these committees are in reasonably good agreement and suggest that the genetic risks from present exposures resultng from nuclear power production are small. There is room for much improvement in the reliability of the risk estimates. The relatively new approach of measuring the amount of induced damage to the mouse skeleton shows great promise of improving knowledge about how changes in the mutation frequency affect the incidence of genetic disorders. Such findings may have considerable influence on genetic risk estimates for radiation and on the development of risk estimates for other less-well-understood environmental mutagens. (author)

  9. Preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Karin Writzl


    Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.

  10. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

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


    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...

  11. Genetics of osteoporosis

    NARCIS (Netherlands)

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


    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

  12. Genetic disorders of collagen.


    Tsipouras, P; Ramirez, F


    Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.

  13. Paper Genetic Engineering. (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…

  14. A century of genetics (United States)

    Daniel J. Fairbanks


    In 1866, Gregor Mendel published his experiments on heredity in the garden pea (Pisum sativum). The fundamental principles of inheritance derived from his work apply to nearly all eukaryotic species and are now known as Mendelian principles. Since 1900, Mendel has been recognized as the founder of genetics. In 1900, three botanists, Carl Correns, Hugo De Vries, and...

  15. Punnett and duck genetics

    Indian Academy of Sciences (India)

    century, but rather little, in comparison, about Punnett. ∗Email: All this and more about Punnett are very well recounted in a biography by F. A. E. Crew (1967; also available online through JSTOR, see URL below, restricted access). This bi- ography has many gems about the early days of genetics and.

  16. Genetic aspects of domestication

    NARCIS (Netherlands)

    Lenstra, Johannes A.|info:eu-repo/dai/nl/067852335; Felius, M.


    The available data on the domestication and history of cattle are summarized in this chapter, including the appearance of phenotypes that today are the subject of genetic research. Focus is given on taurine cattle spread over the old world, zebus around the equator, large taurines during classical

  17. The genetics of obesity. (United States)

    All definitions of the metabolic syndrome include some form of obesity as one of the possible features. Body mass index (BMI) has a known genetic component, currently estimated to account for about 70% of the population variance in weight status for non-syndromal obesity. Much research effort has be...

  18. Genetic Resources of Watermelon (United States)

    As a result of many years of domestication and selection for desirable fruit quality, watermelon cultivars (Citrullus lanatus) share a narrow genetic base. Africa is the center of origin and diversity of watermelon and is considered to be the central continent for collecting and conserving useful ge...


    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI


    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.

  20. Genetics of Retinoblastoma. (United States)

    Mallipatna, Ashwin; Marino, Meghan; Singh, Arun D


    Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the precursor retinal cell are essential, with one mutation that may be germline or somatic and the second one that is always somatic. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of nonocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Genetic testing and genetic counseling are therefore essential components of care for all children diagnosed with retinoblastoma. The American Joint Committee on Cancer has acknowledged the importance of detecting this heritable trait and has introduced the letter "H" to denote a heritable trait of all cancers, starting with retinoblastoma (in publication). In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma.

  1. Genetics of dementia. (United States)

    Loy, Clement T; Schofield, Peter R; Turner, Anne M; Kwok, John B J


    25% of all people aged 55 years and older have a family history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease (APP, PSEN1, and PSEN2 genes), frontotemporal dementia (MAPT, GRN, C9ORF72, and other genes), and other familial dementias. We conclude by discussing the practical aspects of genetic counselling. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem


    Dec 24, 2014 ... The number of genetic maps constructed based on certain data related to the structural organization and functional ... tome maps of messenger RNA and of different micro RNA species in normal and in diseased subjects could ..... other eukaryotic genomes. The human genome contains over one million ...

  3. Longleaf Pine Genetics (United States)

    Ronald C. Schmidtling


    There has been a movement of late toward the use of natural regeneration for iongieaf pine (Pinus palustris Mill.) as well as for other forest tree species. If you have a good natural stand, and have plenty of time, natural regeneration will result in a suitable stand, and genetics is not relevant.

  4. Safe genetically engineered plants

    International Nuclear Information System (INIS)

    Rosellini, D; Veronesi, F


    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

  5. Genetics of eye diseases

    Indian Academy of Sciences (India)

    genetics to aid in clinical management and therapy of ocular diseases with special reference to retinal degenerations or dystrophies. Looking at the roles of different photoreceptor ciliary proteins in photoreceptor function as well as in retinal dystrophy phenotypes, Hemant Khanna and co-workers (page 399) review current ...

  6. Punnett and duck genetics

    Indian Academy of Sciences (India)

    Genetics therefore appeared to afford an 'easy' so- lution that could be of much economic importance. Punnett was successful in his efforts by analysing reciprocal crosses between the Mallard and Indian Runner duck. Interestingly, he does not restrict his observations to the colour but also comments on the behaviour of the ...

  7. Linear genetic programming

    CERN Document Server

    Brameier, Markus


    Presents a variant of Genetic Programming that evolves imperative computer programs as linear sequences of instructions, in contrast to the more traditional functional expressions or syntax trees. This book serves as a reference for researchers, but also contains sufficient introduction for students and those who are new to the field

  8. Mathematical models in genetics. (United States)

    Traykov, M; Trenchev, Iv


    In this study, we present some of the basic ideas of population genetics. The founders of population genetics are R.A. Fisher, S. Wright, and J. B.S. Haldane. They, not only developed almost all the basic theory associated with genetics, but they also initiated multiple experiments in support of their theories. One of the first significant insights, which are a result of the Hardy–Weinberg law, is Mendelian inheritance preserves genetic variation on which the natural selection acts. We will limit to simple models formulated in terms of differential equations. Some of those differential equations are nonlinear and thus emphasize issues such as the stability of the fixed points and time scales on which those equations operate. First, we consider the classic case when selection acts on diploid locus at which wу can get arbitrary number of alleles. Then, we consider summaries that include recombination and selection at multiple loci. Also, we discuss the evolution of quantitative traits. In this case, the theory is formulated in respect of directly measurable quantities. Special cases of this theory have been successfully used for many decades in plants and animals breeding.

  9. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

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


    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

  10. [Genetic background of osteoporosis]. (United States)

    Takács, István; Lakatos, Péter


    Osteoporosis is characterized by a decrease in bone mass as well as a deterioration of the bone architecture resulting in an increased risk of fracture. The disease is multifactorial, and it depends on environmental and genetic factors. Twin studies have shown that genetic factors account for 60-80% of the variance in bone mineral density, the best predictor of the risk of osteoporosis. There are different approaches to identify these genetic factors. Linkage studies in human and experimental animals have defined multiple loci that regulate bone mass but most of the genes responsible for this effect remain to be defined. The 11q12-13 locus was the first that was linked to bone mineral density of the young female and special bone diseases like high bone mass syndrome and osteoporosis-pseudoglioma syndrome. Both diseases appear to be in association with LDL receptor-related protein 5 gene mutation. The effect of LDL receptor-related protein 5 on bone metabolism had not been known only genetic methods suggested it. The effect of LRP5 in osteoporosis pathogenesis requires more investigation. Association and linkage studies have been performed in order to identify candidate genes in the pathogenesis of osteoporosis. Vitamin D receptor gene was the first candidate, however its effect is controversial. Other candidates, such as insulin like growth factor, interleukin-6, estrogen receptor alpha, transforming growth factor beta show no or small effect on bone mineral density or fracture frequency. To date only Sp1 polymorphism of collagen gene seems to have a consistent effect on bone fragility. The improved understanding of osteoporosis genetics should lead to better diagnosis of this disease and new treatment and prevention strategies.

  11. Low genetic diversity and high genetic differentiation among ...

    African Journals Online (AJOL)

    Possible reasons for the high population genetic differentiation and the low levels of genetic variation within populations are inbreeding and genetic drift. Of a total of 26 known populations, 14 are now extinct, five during the course of this study. Action to prevent complete extinction of the species is therefore urgent.

  12. Genetic Engineering and the Amelioration of Genetic Defect (United States)

    Lederberg, Joshua


    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

  13. Selected Readings in Genetic Engineering (United States)

    Mertens, Thomas R.; Robinson, Sandra K.


    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)

  14. The Genetics of Pork Quality

    NARCIS (Netherlands)

    Wijk, van H.J.


    This thesis describes the genetics of carcass composition and pork quality traits. A large population of commercial finishers was extensively phenotyped for growth, carcass composition and meat quality traits. Genetic parameters were estimated based on those measurements. The population was

  15. Talking Glossary of Genetic Terms (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  16. Genetics Home Reference: psoriatic arthritis (United States)

    ... 2 links) American Society for Surgery of the Hand Johns Hopkins Arthritis Center General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  17. Genetics Home Reference: hereditary xanthinuria (United States)

    ... Testing (2 links) Genetic Testing Registry: Deficiency of xanthine oxidase Genetic Testing Registry: Xanthinuria type 2 Other Diagnosis ... xanthine dehydrogenase and aldehyde oxidase xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthinuria XDH deficiency Related Information How are ...

  18. Genetics Home Reference: dystonia 6 (United States)

    ... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  19. Genetics Home Reference: PURA syndrome (United States)

    ... tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  20. NCI Dictionary of Genetics Terms (United States)

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

  1. Clinical Cancer Genetics and Prevention (United States)

    Olufunmilayo F. Olopade MD, FACP, Professor of Medicine and Human Genetics and Director of the Cancer Risk Clinic Department of Medicine, BSD Section of Hematology/Oncology University of Chicago, presented "Clinical Cancer Genetics and Prevention".

  2. Genetics Home Reference: arginase deficiency (United States)

    ... in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, ... links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ...

  3. Foundations of genetic algorithms 1991

    CERN Document Server


    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

  4. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.


    The mutagenic effects of ionising radiation on germ cells with resulting genetic abnormalities in subsequent generations, are considered. Having examined a simple model to explain the interaction of ionising radiation with genetic material and discussed its limitations, the methods whereby mutations are transmitted are discussed. Methods of estimating genetic risks and the results of such studies are examined. (U.K.)

  5. Biological imprinting: Some genetic considerations

    Directory of Open Access Journals (Sweden)

    Mohammad Saad Zaghloul Salem


    Full Text Available Genetic imprinting represents one of the most puzzling, still unexplained, phenomena in genetics. Changing some agreed upon concepts and redefinition of some common traditional terms in classical genetics seems imperative for understanding the nature of imprinting, as well as for interpretation of possible mechanisms implicated in its occurrence.

  6. Genetics of corneal endothelial dystrophies

    Indian Academy of Sciences (India)


    Dec 31, 2009 ... Kallam Anji Reddy Molecular Genetics Laboratory, Prof Brien Holden Eye Research Centre,. L. V. Prasad Eye Institute, ... Keywords. genetics; corneal dystrophy; corneal endothelium; gene mapping; mutations. Journal of Genetics .... PPCD and autosomal dominant keratoconus (including ker- atoconus in ...

  7. Population genetics without intraspecific data

    DEFF Research Database (Denmark)

    Thorne, Jeffrey L; Choi, Sang Chul; Yu, Jiaye


    populations, and parameters of interspecific models should have population genetic interpretations. We show, with two examples, how population genetic interpretations can be assigned to evolutionary models. The first example considers the impact of RNA secondary structure on sequence change, and the second...... genetic interpretation. Udgivelsesdato: 2007-Aug...

  8. Genetic Counseling in Mental Retardation. (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  9. Moral Fantasy in Genetic Engineering. (United States)

    Boone, C. Keith


    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)

  10. Genetics Home Reference: myasthenia gravis (United States)

    ... GP, Tzartos SJ, Poulas K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub 2013 Nov 5. Review. Citation on PubMed or Free article on PubMed ... from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  11. Genetics Home Reference: Dupuytren contracture (United States)

    ... 60 develop the disorder. Studies suggest that a genetic predisposition to develop this disorder may have been spread through northern Europe and Britain by the Vikings. Dupuytren contracture is less common in ... information about a genetic condition can statistics provide? Why are some genetic ...

  12. Genetic Transformation in Citrus

    Directory of Open Access Journals (Sweden)

    Dicle Donmez


    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.

  13. Genetic discrimination: international perspectives. (United States)

    Otlowski, M; Taylor, S; Bombard, Y


    Genetic discrimination (GD) is a complex, multifaceted ethical, psychosocial, and legal phenomenon. It is defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. This article presents an overview of GD within the contemporary international context. It describes the concept of GD and its contextual features, reviews research evidence regarding people's experiences of GD and the impact of GD within a range of domains, and provides an overview of legal and policy responses to GD that have emerged globally. We argue that GD is a significant and internationally established phenomenon that requires multilevel responses to ensure social justice and equitable outcomes for all citizens. Future research should monitor GD and its impacts within the community as well as institutions and should evaluate the effectiveness of legislative, policy, community education, and systemic responses.

  14. Genetically engineered yeast

    DEFF Research Database (Denmark)


    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...... semialdehyde. The yeast may also express a 3-hydroxyisobutyrate dehydrogenase (HIBADH) and a 3-hydroxypropanoate dehydrogenase (3-HPDH) and aspartate 1-decarboxylase. Additionally the yeast may express pyruvate carboxylase and aspartate aminotransferase....

  15. Genetics of Alcoholism. (United States)

    Zhu, Ena C; Soundy, Timothy J; Hu, Yueshan


    Consuming excessive amounts of alcohol has the potential to modify an individual's brain and lead to alcohol dependence. Alcohol use leads to 88,000 deaths every year in the U.S. alone and can lead to other health issues including cancers, such as colorectal cancer, and mental health problems. While drinking behavior varies due to environmental factors, genetic factors also contribute to the risk of alcoholism. Certain genes affecting alcohol metabolism and neurotransmitters have been found to contribute to or inhibit the risk. Geneenvironment interactions may also play a role in the susceptibility of alcoholism. With a better understanding of the different components that can contribute to alcoholism, more personalized treatment could cater to the individual. This review discusses the major genetic factors and some small variants in other genes that contribute to alcoholism, as well as considers the gene-environmental interactions. Copyright© South Dakota State Medical Association.

  16. Genetics of Cerebral Vasospasm

    Directory of Open Access Journals (Sweden)

    Travis R. Ladner


    Full Text Available Cerebral vasospasm (CV is a major source of morbidity and mortality in aneurysmal subarachnoid hemorrhage (aSAH. It is thought that an inflammatory cascade initiated by extravasated blood products precipitates CV, disrupting vascular smooth muscle cell function of major cerebral arteries, leading to vasoconstriction. Mechanisms of CV and modes of therapy are an active area of research. Understanding the genetic basis of CV holds promise for the recognition and treatment for this devastating neurovascular event. In our review, we summarize the most recent research involving key areas within the genetics and vasospasm discussion: (1 Prognostic role of genetics—risk stratification based on gene sequencing, biomarkers, and polymorphisms; (2 Signaling pathways—pinpointing key inflammatory molecules responsible for downstream cellular signaling and altering these mediators to provide therapeutic benefit; and (3 Gene therapy and gene delivery—using viral vectors or novel protein delivery methods to overexpress protective genes in the vasospasm cascade.

  17. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

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


    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. Genetics of essential hypertension. (United States)

    Mein, Charles A; Caulfield, Mark J; Dobson, Richard J; Munroe, Patricia B


    Essential hypertension affects 1 billion people worldwide and its genetic basis is well established. For this review we surveyed the literature on the genetics of hypertension during the past 18 months and we now report the highlights. There has been publication of the two largest genome scans for blood pressure and new loci including significant linkage to chromosome 6q have been reported. The molecular basis of Gordon's syndrome has been partially unravelled with a dual function for WNK4 in ion transport regulation being discovered. There has also been progress in narrowing rodent quantitative trait loci using congenic approaches and several linkage peaks have now been demonstrated to have more than one loci. We also report some of the initial findings from pharmacogenetic studies.

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

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.


    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.

  20. Referring patients for a medical genetics consultation and genetic counseling. (United States)

    Sutton, Reid


    Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk. Copyright © 2011 S. Karger AG, Basel.

  1. Genetics of Diabetes Insipidus. (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton


    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. [Genetics of ischemic stroke]. (United States)

    Gschwendtner, A; Dichgans, M


    Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.

  3. Genetics Home Reference: globozoospermia (United States)

    ... man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Citation on PubMed or Free article on PubMed Central Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray ...

  4. Genetics of bovine vaccination


    Leach, Richard Jonathan


    Infectious disease is an important issue for animal breeders, farmers and governments. Solutions to control infectious disease are needed and research focused on the genetic loci determining variation in immune-related traits has the potential to deliver solutions. The primary aim of this thesis is to discover regions of the bovine genome which influence the immune response post immunisation. To accomplish this two types of immunising agents, a Foot-and-Mouth Disease Virus (FMD...

  5. Genetic monitoring of agrocoenosis

    International Nuclear Information System (INIS)

    Lukin, V.D.


    Mutants with high frequency of revertants appearance can be used as biological indicator of genetic monitoring of agrocoenosis. It differs from the initial form in dwarf-size of the shrub, the changed plate of leaf and sterility. The low limit of the mutant sensitiveness on the test of visible reverse mutations to the doses of gamma-irradiation is 0,2 Gy and to the rate of soil contamination by lead is 50 mg per 1 kg of soil. (authors)

  6. Genetics for the ophthalmologist


    Sadagopan, Karthikeyan A.; Capasso, Jenina; Levin, Alex V.


    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 de...

  7. Pig ham genetic traceability

    Directory of Open Access Journals (Sweden)

    S. Dall'Olio


    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......

  8. Genetics of bipolar disorder


    Kerner, Berit


    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 ...

  9. Genetics of Vitiligo (United States)

    Spritz, Richard; Andersen, Genevieve


    Synopsis Vitiligo is “complex disorder” (also termed polygenic and multifactorial), reflecting simultaneous contributions of multiple genetic risk factors and environmental triggers. Large-scale genome-wide association studies, principally in European-derived whites and in Chinese, have discovered approximately 50 different genetic loci that contribute to vitiligo risk, some of which also contribute to other autoimmune diseases that are epidemiologically associated with vitiligo. At many of these vitiligo susceptibility loci the corresponding relevant genes have now been identified, and for some of these genes the specific DNA sequence variants that contribute to vitiligo risk are also now known. A large fraction of these genes encode proteins involved in immune regulation, a number of others play roles in cellular apoptosis, and still others are involved in regulating functions of melanocytes. For this last group, there appears to be an opposite relationship between susceptibility to vitiligo and susceptibility to melanoma, suggesting that vitiligo may engage a normal mechanism of immune surveillance for melanoma. While many of the specific biologic mechanisms through which these genetic factors operate to cause vitiligo remain to be elucidated, it is now clear that vitiligo is an autoimmune disease involving a complex relationship between programming and function of the immune system, aspects of the melanocyte autoimmune target, and dysregulation of the immune response. PMID:28317533

  10. Genetics of Huntington disease. (United States)

    Nance, Martha A


    In this chapter, we review the evolution of our understanding of the genetic aspects of HD, and the applications of our understanding in the management of Huntington's disease patients and families over the last 150 years. Important aspects of the clinical genetics and epidemiology of Huntington's disease are discussed, such as the definition of "normal" and "abnormal" numbers of CAG (cytosine-adenine-guanine) repeats in the critical spot within the huntingtin gene, meiotic instability of CAG repeat numbers, common Huntington's disease genetic haplotypes, compound heterozygosity for an abnormal gene, and somatic mosaicism for CAG repeat expansions. We touch only briefly on the creation of multiple animal models for Huntington's disease that have profoundly impacted our understanding of the disease and permitted the development of potential disease-modifying treatments, and end with what is, at the time of writing, the dawn of a new era: the advent of gene-based therapies (gene silencing, gene editing) for Huntington's disease. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Algebras in genetics

    CERN Document Server

    Wörz-Busekros, Angelika


    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. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno


    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.

  13. Reprogenetics: preimplantational genetics diagnosis

    Directory of Open Access Journals (Sweden)

    Roberto Coco


    Full Text Available Preimplantational Genetics Diagnosis (PGD is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS to assures an euploid embryo transfer, with the purpose to achieve an ongoing pregnancy, although the couple have normal karyotypes. As embryonic aneuploidies are responsible for pre and post implantation abortions, it is logical to considerer that the screening of the embryonic aneuploidies prior to embryo transfer could improve the efficiency of the in vitro fertilization procedures. Nevertheless, it is still premature to affirm this until well-designed clinical trials were done, especially in women of advanced age where the rate of embryos with aneuploidies is much greater. Although the indications of PGD are similar to conventional prenatal diagnosis (PND, PGD has less ethical objections than the PND. As with the PGD/PGS results only unaffected embryos are transferred, both methods can avoid the decision to interrupt the pregnancy due to a genetic problem; this makes an important difference when compared to conventional prenatal diagnosis.

  14. 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: [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)


    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.

  15. Experiencing the genetic body: parents' encounters with pediatric clinical genetics. (United States)

    Raspberry, Kelly; Skinner, Debra


    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

  16. Genetic Algorithms and Local Search (United States)

    Whitley, Darrell


    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.

  17. The synthesis paradigm in genetics. (United States)

    Rice, William R


    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.

  18. The genetics of autism. (United States)

    Muhle, Rebecca; Trentacoste, Stephanie V; Rapin, Isabelle


    Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Autism corresponds in this article to pervasive developmental disorder (PDD) of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and International Classification of Diseases, Tenth Revision. Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. Review of 2 major textbooks on autism and of papers published between 1961 and 2003 yields convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown

  19. Genetic Counselling for Schizophrenia in the Era of Molecular Genetics (United States)

    Hodgkinson, Kathleen A; Murphy, Jillian; O’Neill, Sheri; Brzustowicz, Linda; Bassett, Anne S


    Objective To review the role of genetic counselling for individuals with psychiatric illnesses. Method Using schizophrenia as an example and including updated information about a genetic subtype (22q deletion syndrome), we discuss the value of the genetic counselling process in psychiatry, with support from the literature and our clinical experience. Results Genetic counselling, the process through which knowledge about the genetics of illnesses is shared, provides information on the inheritance of illnesses and their recurrence risks; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these illnesses. For comprehensive medical management, this service should be available to all individuals with schizophrenia and their families. Conclusions New findings in the genetics of psychiatric illness may have important clinical implications for patients and their families. PMID:11280080

  20. Coalgebraic structure of genetic inheritance. (United States)

    Tian, Jianjun; Li, Bai-Lian


    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.

  1. Genetic disorders of pigmentation. (United States)

    Passeron, Thierry; Mantoux, Frédéric; Ortonne, Jean-Paul


    More than 127 loci are actually known to affect pigmentation in mouse when they are mutated. From embryogenesis to transfer of melanin to the keratinocytes or melanocytes survival, any defect is able to alter the pigmentation process. Many gene mutations are now described, but the function of their product protein and their implication in melanogenesis are only partially understood. Each genetic pigmentation disorder brings new clues in the understanding of the pigmentation process. According to the main genodermatoses known to induce hypo- or hyperpigmentation, we emphasize in this review the last advances in the understanding of the physiopathology of these diseases and try to connect, when possible, the mutation to the clinical phenotype.

  2. [Genetic ocular diseases]. (United States)

    Hamel, Christian P


    Genetic ocular diseases are inherited Mendelian conditions (prevalence 1/1000) in which any tissue of the eye could be involved (cornea, lens, iridocomeal angle, vitrous, retina, choroid, sclera). More than 200 genes are responsible for inherited retinal dystrophies and even more genes remain to be identified. These genes belong to many metabolisms essential to the photoreceptor function. Gene therapy and retinal prosthesis are the two most promising therapeutic strategies currently in clinical trials which are expected to provide visual improvement in short term.

  3. gap: Genetic Analysis Package

    Directory of Open Access Journals (Sweden)

    Jing Hua Zhao


    Full Text Available A preliminary attempt at collecting tools and utilities for genetic data as an R package called gap is described. Genomewide association is then described as a specific example, linking the work of Risch and Merikangas (1996, Long and Langley (1997 for family-based and population-based studies, and the counterpart for case-cohort design established by Cai and Zeng (2004. Analysis of staged design as outlined by Skol et al. (2006 and associate methods are discussed. The package is flexible, customizable, and should prove useful to researchers especially in its application to genomewide association studies.

  4. Impact of a genetic counseling requirement prior to genetic testing. (United States)

    Stenehjem, David D; Au, Trang; Sainski, Amy M; Bauer, Hillevi; Brown, Krystal; Lancaster, Johnathan; Stevens, Vanessa; Brixner, Diana I


    Genetic counseling by a Genetic Counselor (GC) is a requirement prior to genetic testing for cancer susceptibility genes (GC-mandate policy) for some insurers. This study evaluated the impact of this policy from the patient perspective. Surveys were sent to individuals for whom their insurer ordered genetic testing for the cancer susceptibility genes BCRA1 and BRCA2 over a 1 year time period that spanned the introduction of a GC-mandate policy. Responses were assessed by time period (before/after policy introduction) and genetic test completion. The surveys were completed by 1247/4950 (25.7%) eligible individuals. After policy introduction, there was no change in the proportion of respondents who completed genetic testing (p = 0.13) or had a mutation (p = 0.55). Overall decisional conflict (uncertainty or feeling uninformed) around genetic testing did not change after policy introduction (p = 0.16), but was significantly higher among respondents who did not complete genetic testing (p test results (p tested after policy introduction or who did not complete genetic testing (p testing. A GC-mandate policy did not improve decisional conflict or increase the number of deleterious mutations identified and low-income respondents were less likely to complete testing. On the contrary, insurance requirements and time constraints may be preventing individuals at risk from receiving appropriate testing.

  5. Genetic code for sine (United States)

    Abdullah, Alyasa Gan; Wah, Yap Bee


    The computation of the approximate values of the trigonometric sines was discovered by Bhaskara I (c. 600-c.680), a seventh century Indian mathematician and is known as the Bjaskara's I's sine approximation formula. The formula is given in his treatise titled Mahabhaskariya. In the 14th century, Madhava of Sangamagrama, a Kerala mathematician astronomer constructed the table of trigonometric sines of various angles. Madhava's table gives the measure of angles in arcminutes, arcseconds and sixtieths of an arcsecond. The search for more accurate formulas led to the discovery of the power series expansion by Madhava of Sangamagrama (c.1350-c. 1425), the founder of the Kerala school of astronomy and mathematics. In 1715, the Taylor series was introduced by Brook Taylor an English mathematician. If the Taylor series is centered at zero, it is called a Maclaurin series, named after the Scottish mathematician Colin Maclaurin. Some of the important Maclaurin series expansions include trigonometric functions. This paper introduces the genetic code of the sine of an angle without using power series expansion. The genetic code using square root approach reveals the pattern in the signs (plus, minus) and sequence of numbers in the sine of an angle. The square root approach complements the Pythagoras method, provides a better understanding of calculating an angle and will be useful for teaching the concepts of angles in trigonometry.

  6. Genetic basis of cohesinopathies

    Directory of Open Access Journals (Sweden)

    Barbero JL


    Full Text Available José L Barbero Cellular and Molecular Biology Department, Biological Research Center, Madrid, Spain Abstract: Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of results have also demonstrated a need for the cohesin complex in other crucial events in the life cycle of the cell, including DNA duplication, heterochromatin formation, DNA double-strand break repair, and control of gene expression. The dynamics of the cohesin ring are modulated by a number of accessory and regulatory proteins, known as cohesin cofactors. Loss of function of the cohesin complex is incompatible with life; however, mutations in the genes encoding for cohesin subunits and/or cohesin cofactors, which have very little or a null effect on chromosome segregation, represent a newly recognized class of human genetic disorders known as cohesinopathies. A number of genetic, biochemical, and clinical approaches, and importantly, animal models, can help us to determine the underlying mechanisms for these human diseases. Keywords: cohesin, cohesinopathies, Cornelia de Lange syndrome, Roberts syndrome, control, gene expression, insulators

  7. [Genetics of oculocutaneous albinism]. (United States)

    Zühlke, C; Stell, A; Käsmann-Kellner, B


    Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin. Clinically, oculocutaneous and ocular types, as well as syndromes associated with albinism resulting from mutations in at least 14 genes, are distinguishable. Most frequent is oculocutaneous albinism (OCA), which is subdivided nowadays into four forms, OCA 1-OCA 4. OCA is inherited as an autosomal recessive trait. Clinical differentiation of OCA types is difficult due to the observed range of phenotypic variation. Thus, genetic analysis may be helpful with respect to a precise diagnosis. Sequencing of the four genes associated with OCA detects variations in approximately 60-70% of German patients with albinism. The majority of German patients are affected by OCA 1 resulting from mutations in the gene for tyrosinase, the key enzyme in the synthesis of melanin pigment. Worldwide, OCA2 is the most frequent form of albinism.

  8. Carcinogenesis. Genetics and circumstances

    International Nuclear Information System (INIS)

    Hino, Okio


    Described are the author's study and aspect concerning carcinogenesis and radiation carcinogenesis, where he thinks cancer is not automatic, has a process and takes time. For radiation carcinogenic studies, he has used a model of the rat with genetically determined kidney cancer which is highly radiosensitive. That is, mutation by the so-called 2nd-hit of the causal gene (tumor suppressing gene Tsc2) is studied in the animal where the 1st-hit has been done by retrotransposon insertion, with and without exposure to radiations (X-ray, heavy particle beam and cosmic ray) for elucidating the mutation spectrum of the causal gene, the carcinogenic target, for the ultimate aim to prevent human cancer. He discusses the drama-type molecular mechanisms leading to cancer, gene abnormality and disease crisis, discontinuity in continuity in cancer formation, and importance of the timely diagnosis and appropriate therapy, and concludes the present age is becoming such one as that the nature of cancer even if genetic can be controlled by circumstances like timely and appropriate intervention. (S.I.)

  9. Genetics of Hypogonadotropic Hypogonadism. (United States)

    Topaloglu, A Kemal; Kotan, L Damla


    Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable proportion of cases of HH is due to genetic mutations. Recognizing those mutated genes and associated phenotypes may improve our diagnostic capabilities. GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH. In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). FEZF1 has recently been added to the growing list of KS genes. Also, discovery of mutations in KISS1/KISS1R and TAC3/TACR3 in kisspeptin and neurokinin B signaling, respectively, has provided major advancements in our understanding of the biology of the gonadotropin-releasing hormone pulse generator. Identification of further causative mutations accounting for the HH phenotype, which is now more feasible with the increasing popularity of whole exome sequencing, may provide deeper insight into the biology of the hypothalamic-pituitary-gonadal axis. © 2016 S. Karger AG, Basel.

  10. Genetics of COPD

    Directory of Open Access Journals (Sweden)

    Hidetoshi Nakamura


    Full Text Available Previous family studies suggested that genetic variation contributes to COPD susceptibility. The only gene proven to influence COPD susceptibility is SERPINA1, encoding α1-antitrypsin. Most studies on COPD candidate genes except SERPINA1, have not been consistently replicated. However, longitudinal studies of decline in lung function, meta-analyses of candidate gene studies, and family-based linkage analyses suggested that variants in EPHX1, GST, MMP12, TGFB1, and SERPINE2 were associated with susceptibility to COPD. A genome-wide association (GWA study has recently demonstrated that CHRNA3/5 in 15q25 was associated with COPD compared with control smokers. It was of interest that the CHRNA3/5 locus was associated with nicotine dependence and lung cancer as well. The associations of HHIP on 4q31 and FAM13A on 4q22 with COPD were also suggested in GWA studies. Another GWA study has shown that BICD1 in 12p11 was associated with the presence or absence of emphysema. Although every genetic study on COPD has some limitations including heterogeneity in smoking behaviors and comorbidities, it has contributed to the progress in elucidating the pathogenesis of COPD. Future studies will make us understand the mechanisms underlying the polygenic disease, leading to the development of a specific treatment for each phenotype.

  11. Biology, Genetics, and Environment (United States)

    Wall, Tamara L.; Luczak, Susan E.; Hiller-Sturmhöfel, Susanne


    Gene variants encoding several of the alcohol-metabolizing enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), are among the largest genetic associations with risk for alcohol dependence. Certain genetic variants (i.e., alleles)—particularly the ADH1B*2, ADH1B*3, ADH1C*1, and ALDH2*2 alleles—have been associated with lower rates of alcohol dependence. These alleles may lead to an accumulation of acetaldehyde during alcohol metabolism, which can result in heightened subjective and objective effects. The prevalence of these alleles differs among ethnic groups; ADH1B*2 is found frequently in northeast Asians and occasionally Caucasians, ADH1B*3 is found predominantly in people of African ancestry, ADH1C*1 varies substantially across populations, and ALDH2*2 is found almost exclusively in northeast Asians. Differences in the prevalence of these alleles may account at least in part for ethnic differences in alcohol consumption and alcohol use disorder (AUD). However, these alleles do not act in isolation to influence the risk of AUD. For example, the gene effects of ALDH2*2 and ADH1B*2 seem to interact. Moreover, other factors have been found to influence the extent to which these alleles affect a person’s alcohol involvement, including developmental stage, individual characteristics (e.g., ethnicity, antisocial behavior, and behavioral undercontrol), and environmental factors (e.g., culture, religion, family environment, and childhood adversity). PMID:27163368

  12. Genetics and plant development. (United States)

    Prunet, Nathanaël; Meyerowitz, Elliot M


    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. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  13. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto


    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.

  14. What Use Is Population Genetics? (United States)

    Charlesworth, Brian


    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. Copyright © 2015 by the Genetics Society of America.

  15. Mitochondrial Genetics and Cancer

    Directory of Open Access Journals (Sweden)

    Safarina G. Malik


    Full Text Available The first modern human, the Mitochondrial Eve, was traced back to Africa about 200,000 years ago, based on the variation in the mitochondrial DNA (mtDNA. An eruption of a super volcano, Mount Toba, in Sumatra 70,000 years ago may have led to a 'nuclear winter', followed by a 1,000-year ice age. This cold snap would have made life difficult; genetic evidence indicated a sharp reduction in population size around this time, reaching approximately 10,000 individuals. Once the climate started to improve, our ancestors recovered from this near-extinction event. The population expanded, and some courageous explorers ventured beyond Africa. Around 50,000 years ago some of these brave ancestors had successfully crossed the globe to South East Asia and Australia. Some of them settled in the Indonesian archipelago, forming the first settlement of prehistoric Indonesia. The second migration happened around 10,000 years ago, where a group of hunter-gatherers followed the now-submerged river systems that once ran from mainland Asia between the modern islands of Sumatera, Java, and Borneo. Then, around 4,000 years ago the third group of ancestors arrived. This agricultural community brought along their culture of pottery, plant cultivation, and animal domestication, co-inciding with the vast spread of Austronesian languages. Therefore, it is likely that the Indonesian archipelago hosts a wide range of linguistic, ethnic and genetic diversity.1 Nowadays, the modern Indonesia is home to around 700 ethnic populations, each with distinct cultural and linguistic characteristics, representing vast genome diversity. Our ancestors’ decision to embark on a sea travel and take on its related lifestyle has influenced the development of susceptibility and resistance to various diseases observed today. During the prolonged travel, our ancestors were subjected to changes in global climate and geographic dynamic, which strongly influenced and shaped the genetic background

  16. Genetic Algorithms in Noisy Environments




    Genetic Algorithms (GA) have been widely used in the areas of searching, function optimization, and machine learning. In many of these applications, the effect of noise is a critical factor in the performance of the genetic algorithms. While it hals been shown in previous siiudies that genetic algorithms are still able to perform effectively in the presence of noise, the problem of locating the global optimal solution at the end of the search has never been effectively addressed. Furthermore,...

  17. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.


    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....

  18. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels


    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...

  19. Genetic effects of ionizing radiation

    International Nuclear Information System (INIS)

    Myers, D.K.; Childs, J.D.


    The genetic material in living organisms is susceptible to damage from a wide variety of causes including radiation exposure. Most of this damage is repaired by the organism; the residual damage and damage which is not correctly repaired can lead to genetic changes such as mutations. In lower organisms, most offspring carry an unaltered copy of the genetic information that was present in the parental organism, most of the genetic changes which do occur are not caused by natural background radiation, and the increase in frequency of genetic changes after irradiation at low-dose rates is directly proportional to total radiation dose. The same principles appear to be valid in mammals and other higher organisms. About 105 out of every 1000 humans born suffer from some genetic or partly-genetic condition requiring medical attention at some time. It has been estimated that approximately 1 person in every 2000 born carry a deleterious genetic mutation that was caused by the continued exposure of many generations of our ancestors to natural background radiation. On the same basis, it is predicted that the incidence of genetic diseases would be increased to 106 per 1000 in the children and grandchildren of radiation workers who were exposed to 1 rem per year commencing at age 18. However, there was no detectable change in the health and fitness of mice whose male ancestors were repeatedly exposed to high radiation doses up to 900 rem per generation. (auth)

  20. Statistical methods in spatial genetics

    DEFF Research Database (Denmark)

    Guillot, Gilles; Leblois, Raphael; Coulon, Aurelie


    The joint analysis of spatial and genetic data is rapidly becoming the norm in population genetics. More and more studies explicitly describe and quantify the spatial organization of genetic variation and try to relate it to underlying ecological processes. As it has become increasingly difficult...... 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...

  1. Genetic Modifiers of Ovarian Cancer (United States)


    unselected for family history : a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130. Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S...unselected for family history : a combined analysis of 22 studies. Am J Hum Genet 72: 1117–1130. 2. Antoniou AC, Chenevix-Trench G (2010) Common genetic ...variants and cancer risk in Mendelian cancer syndromes. Curr Opin Genet Dev 20: 299–307. S0959-437X(10)00044-4 [pii];10.1016/j.gde.2010.03.010 [doi]. 3

  2. An analysis of the genetic diversity and genetic structure of ...

    African Journals Online (AJOL)

    Scientific approaches to conservation of threatened species depend on a good understanding of the genetic information of wild and artificial population. The genetic diversity and structure analysis of 10 Eucommia ulmoides population was analyzed using inter-simple sequence repeat (ISSR) markers in this paper.

  3. Towards a genetic architecture of cryptic genetic variation and ...

    Indian Academy of Sciences (India)


    Far from being a historical curiosity, it appears that this phenotype may be a relevant and powerful model system for current studies of cryptic genetic varia- tion and possibly for examining allelic architecture of complex diseases. I will discuss what future research di- rections will allow for this possibility. Genetic assimilation.

  4. Analysis of genetic polymorphism and genetic distance among four ...

    African Journals Online (AJOL)



    Nov 21, 2011 ... The genomes of 4 sheep populations {Yuanqu white Tan sheep (YWT), Baozhongchang white Tan sheep. (BWT), black Tan sheep (BT) and small-tailed Han sheep (Han)} were screened using 10 microsatellite. DNA markers to estimate the genetic diversities and genetic distances among these ...

  5. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics (United States)

    Burian, Richard M.


    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…

  6. [The Human Genome Project, genetic viability and genetic epidemiology]. (United States)

    Hagymási, Krisztina; Tulassay, Zsolt


    The goal of the Human Genome Project to elucidate the complete sequence of the human genome has been achieved. The aims of the "post-genome" era are explaining the genetic information, characterisation of functional elements encoded in the human genome and mapping the human genetic variability as well. Two unrelated human beings also share 99.9% of their genomic sequence. The difference of 0.1% is the result of genetic polymorphisms: single nucleotide polymorphisms, repetitive sequences and insertion/deletion. The genetic differences, coupled with environmental exposures will determine the phenotypic variation we observe in health or disease. The disease-causing genetic variants can be identified by linkage analysis or association studies. The knowledge of human genome and application of multiple biomarkers will improve our ability to identify individuals at risk, so that preventive interventions can be applied, earlier diagnosis can be made and treatment can be optimized.

  7. Genetic algorithm essentials

    CERN Document Server

    Kramer, Oliver


    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.

  8. Genetics of Childhood Obesity

    Directory of Open Access Journals (Sweden)

    Jianhua Zhao


    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.

  9. [Genetics of Campylobacter phages]. (United States)

    Hammerl, Jens A; Jäckel, Claudia; Hertwig, Stefan


    The application of virulent (lytic) bacteriophages isa promising tool to reduce the number of Campylobacter along the food chain. However, only little is known aboutthe genetics of Campylobacter phages. To date, the nucleotide sequences of nine virulent Campylobacter phages have been published.The analysis of the sequences indicated that at the nucleotide level, phages of the same group (group II or group III) are closely related, but that similarities between the groups only exist at the protein level. Both groups of phages are distantly related to T4-like phages. The genomes of the studied Campylobacter phages contain numerous genes for homing endonucleases and transposases as well as repetitive sequences. These elements could be important for genomic rearrangements.

  10. Genetic engineering of cyanobacteria

    DEFF Research Database (Denmark)

    Jacobsen, Jacob Hedemand

    source for growth in autotrophic cyanobacteria is CO2, which is reduced to carbohydrates during photosynthesis. Simple input requirements, fast growth rates and tolerance of adverse environmental conditions make cyanobacteria attractive candidates for large scale production of energy or value added......, including genetic tools that allow metabolic engineering. The cyanobacterial phylum represents a diverse group of aerobic photosynthetic bacteria that are widespread in nature. Cyanobacteria shaped our atmosphere by oxygen evolution through the splitting of water using energy from sunlight. The sole carbon...... that allows ligase independent directional cloning of two PCR products in a single step employing the uracilspecific excision reagent (USER) cloning principle. PCR amplified regions of a gene to be inactivated are inserted on either side of an antibiotic resistance cassette marker for positive selection...

  11. Genetic study on yeast

    International Nuclear Information System (INIS)

    Mortimer, R.K.


    Research during the past year has moved ahead on several fronts. A major compilation of all the genetic mapping data for the yeast Saccharomyces cerevisiae has been completed. The map describes the location of over 300 genes on 17 chromosomes. A report on this work will appear in Microbiological Reviews in December 1980. Recombinant DNA procedures have been introduced into the experiments and RAD52 (one of the genes involved in recombination and repair damage), has been successfully cloned. This clone will be used to determine the gene product. Diploid cells homozygous for RAD52 have exceptionally high frequencies of mitotic loss of chromosomes. This loss is stimulated by ionizing radiation. This effect is a very significant finding. The effect has also been seen with certain other RAD mutants

  12. Agrobacterium: nature's genetic engineer. (United States)

    Nester, Eugene W


    Agrobacterium was identified as the agent causing the plant tumor, crown gall over 100 years ago. Since then, studies have resulted in many surprising observations. Armin Braun demonstrated that Agrobacterium infected cells had unusual nutritional properties, and that the bacterium was necessary to start the infection but not for continued tumor development. He developed the concept of a tumor inducing principle (TIP), the factor that actually caused the disease. Thirty years later the TIP was shown to be a piece of a tumor inducing (Ti) plasmid excised by an endonuclease. In the next 20 years, most of the key features of the disease were described. The single-strand DNA (T-DNA) with the endonuclease attached is transferred through a type IV secretion system into the host cell where it is likely coated and protected from nucleases by a bacterial secreted protein to form the T-complex. A nuclear localization signal in the endonuclease guides the transferred strand (T-strand), into the nucleus where it is integrated randomly into the host chromosome. Other secreted proteins likely aid in uncoating the T-complex. The T-DNA encodes enzymes of auxin, cytokinin, and opine synthesis, the latter a food source for Agrobacterium. The genes associated with T-strand formation and transfer (vir) map to the Ti plasmid and are only expressed when the bacteria are in close association with a plant. Plant signals are recognized by a two-component regulatory system which activates vir genes. Chromosomal genes with pleiotropic functions also play important roles in plant transformation. The data now explain Braun's old observations and also explain why Agrobacterium is nature's genetic engineer. Any DNA inserted between the border sequences which define the T-DNA will be transferred and integrated into host cells. Thus, Agrobacterium has become the major vector in plant genetic engineering.

  13. Genetic aspects of polydactyly. (United States)

    Zguricas, J; Heutink, P; Heredero, L; Deurloo, J; Oostra, B A; Snijders, P J; Lindhout, D; Hovius, S E


    The early limb development follows the similar pattern in all vertebrates since different species develop using the same regulatory genes in the formation of the body plan. Some of these genes remained well conserved during evolution and can be traced back as far as Drosophila--while some others changed their structure or developed new functions. This is why the limbs from different animals still look different from one another. However, all existing tetrapods have, like Homo Sapiens, limbs with five, or fewer digits. It has been argued that the interplay of the factors controlling the patterning and differentiation during the embryonal limb development can provide five distinct "genotypes" allowing development of only five different digits. This would imply that the Greek definition of polydactyly, namely "duplication of the finger or a part of it", is correct, not only in morphological but also in a genetical sense. Genes involved in the determination of the outline of the limb are candidates for disorders like polydactyly and syndactyly. Recently, we have localised the gene for triphalangeal thumb (TPT) on chromosome 7q. As almost 50% of our patient population also had rudimentary postaxial polydactyly and/or syndactyly, the interesting question arose whether the TPT gene also was responsible for isolated post-axial polydactyly. Our preliminary evidence suggests, however, that different gene(s) are involved in the pathomorphogenesis of postaxial polydactyly. Studies of human congenital hand malformations--combined with genetic studies in lower vertebrates--will help us to understand not only the molecular basis of these disorders, but also to get insight into the fascinating mechanisms involved in the normal development of the human hand.

  14. Genetics of Melanoma

    Directory of Open Access Journals (Sweden)

    Janet eWangari-Talbot


    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

  15. Genetics of digital osteoarthritis. (United States)

    Michou, Laëtitia


    Genetic factors contribute to the development of digital osteoarthritis, whose heritability has been estimated at 48 to 65%. Among the manifestations of digital osteoarthritis, only Heberden's nodes are transmitted by Mendelian inheritance, as a dominant trait in women and a recessive trait in men. The other forms of digital osteoarthritis are multifactorial, with a major gene and a residual multifactorial component that probably interacts with environmental factors. Hindrances to molecular studies include the absence to date of a universally accepted definition of the phenotype and the late onset of the manifestations. Genetic association studies of selected class I and II HLA genes produced conflicting results. The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis. Genome-wide scans have identified numerous loci linked to digital osteoarthritis. Replication has been achieved for some of these loci, most notably those located at 2p, 2q, 3p, 4q, and 7p. A recently published genome-wide association study showed that an A2BP1 gene polymorphism was significantly associated with hand osteoarthritis. Many candidate-gene studies found associations with AGC1, ASPN, ENPP1, HFE, KL, VDR, IL-1 cluster, and IL-6, although the results were not consistently reproducible. In one study, women with hand osteoarthritis had significant telomere shortening. Telomere shortening has also been reported in other age-related conditions. Copyright © 2010 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  16. Genetics of pediatric obesity. (United States)

    Manco, Melania; Dallapiccola, Bruno


    Onset of obesity has been anticipated at earlier ages, and prevalence has dramatically increased worldwide over the past decades. Epidemic obesity is mainly attributable to modern lifestyle, but family studies prove the significant role of genes in the individual's predisposition to obesity. Advances in genotyping technologies have raised great hope and expectations that genetic testing will pave the way to personalized medicine and that complex traits such as obesity will be prevented even before birth. In the presence of the pressing offer of direct-to-consumer genetic testing services from private companies to estimate the individual's risk for complex phenotypes including obesity, the present review offers pediatricians an update of the state of the art on genomics obesity in childhood. Discrepancies with respect to genomics of adult obesity are discussed. After an appraisal of findings from genome-wide association studies in pediatric populations, the rare variant-common disease hypothesis, the theoretical soil for next-generation sequencing techniques, is discussed as opposite to the common disease-common variant hypothesis. Next-generation sequencing techniques are expected to fill the gap of "missing heritability" of obesity, identifying rare variants associated with the trait and clarifying the role of epigenetics in its heritability. Pediatric obesity emerges as a complex phenotype, modulated by unique gene-environment interactions that occur in periods of life and are "permissive" for the programming of adult obesity. With the advent of next-generation sequencing techniques and advances in the field of exposomics, sensitive and specific tools to predict the obesity risk as early as possible are the challenge for the next decade.

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

    Directory of Open Access Journals (Sweden)

    Karl Hammer


    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.

  18. Genetic engineering of microbial pesticides (United States)

    Bruce C. Carlton


    Recent advances in genetics and molecular biology make possible the cloning and genetic manipulation of genes for insecticidal activities from natural insect pathogens. Using recombinant DNA methods and site-directed mutagenesis of specific gene regions, production of new and improved biorationals should be possible.

  19. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    Zhang L., Lu S., Sun D. and Peng J. 2015 Genetic variation and geographical differentiation revealed using ISSR markers in tung tree, Vernicia fordii. J. Genet. 94, e5–e9. Online only: ... Patiyal R. S. and Singh A. K. 2015 Molecular characteriza- tion of rainbow trout, Oncorhynchus mykiss (Walbaum, 1792) stocks in India.

  20. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.A.H.


    Ionizing radiation effects on the gem cells, which can result in genetic abnormalities, are described. The basic mechanisms of radiation interactions with chromosomes, or specifically DNA, which can result in radiation induced mutation are discussed. Methods of estimating genetic risks, and some values for quantitative risk estimates are given. (U.K.). 13 refs., 2 figs., 1 tab

  1. Genetic transformation of forest trees

    African Journals Online (AJOL)


    the stress from the regeneration process. We hope that the great progress achieved in the biology of. Agrobacterium and the expression of the genes playing key role in plant development will be helpful in solving the constraint linked to the genetic transformation of forest trees. Genetic transformation of forest trees offers a ...

  2. Genetic basis of chronic pancreatitis

    NARCIS (Netherlands)

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


    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

  3. Haldane and modern evolutionary genetics

    Indian Academy of Sciences (India)

    Brian Charlesworth


    Nov 24, 2017 ... J. B. S. Haldane is renowned as one of the three 'Found- ing Fathers' of population genetics, mainly because of his series of papers on mathematical models of selection that were published in the 1920s and early 1930s. He also made many other important contributions to genetics and to other fields ...

  4. Genetics Home Reference: Williams syndrome (United States)

    ... CA, Berman KF. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005 Aug;8(8):991-3. Epub 2005 Jul 10. Citation on PubMed Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic ...

  5. Haldane and modern evolutionary genetics

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 5. Haldane and modern evolutionary genetics. BRIAN CHARLESWORTH. HALDANE AT 125 Volume 96 Issue 5 November 2017 pp 773-782. Fulltext. Click here to view fulltext PDF. Permanent link: Keywords.

  6. Genetic disorders as collective phenomena

    International Nuclear Information System (INIS)

    Chela-Flores, J.


    Genetic disorders due to human chromosome aberrations in number are discussed from the point of view of Molecular Genetics. The etiology of trisomy is discussed in the light of the collective variables recently introduced and an age-dependent metabolic disorder is suggested as a possible etiological factor. (author). 11 refs

  7. Genetic Testing in Pediatric Ophthalmology. (United States)

    Verma, Ishwar Chander; Paliwal, Preeti; Singh, Kanika


    The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc. A protocol for genetic testing is presented. If specific mutations in a gene are common, they should form the first tier test, as the mutations in Leber hereditary optic neuropathy. If mutations in one gene are likely, sequencing of that gene should be carried out, e.g. GALT gene in galactosemia, RS1 gene in retinoshisis. Disorders with genetic heterogeneity require multi-gene panel tests, and if these show no abnormality, then deletion / duplication or microarray studies are recommended, followed in sequence by clinical exome (5000 to 6000 genes), full exome (about 20,000 genes or whole genome studies (includes all introns). It is fortunate that most genetic tests in ophthalmology are available in India, including gene panel and whole exome/genome sequencing tests.

  8. Difficulties in Genetics Problem Solving. (United States)

    Tolman, Richard R.


    Examined problem-solving strategies of 30 high school students as they solved genetics problems. Proposes a new sequence of teaching genetics based on results: meiosis, sex chromosomes, sex determination, sex-linked traits, monohybrid and dihybrid crosses (humans), codominance (humans), and Mendel's pea experiments. (JN)

  9. Genetic risks of ionizing radiation

    International Nuclear Information System (INIS)

    Sankaranarayanan, K.


    Quantitative genetic risk estimation is made using two methods: the direct method, and the doubling dose (DD) method. The doubling dose currently used is 1 Gy for low LET, low dose, low dose rate irradiation, and is based on mouse data. Tables present the 1988 UNSCEAR estimates of genetic risk using both methods. (L.L.) (Tab.)

  10. Genetically modified foods and allergy. (United States)

    Lee, T H; Ho, H K; Leung, T F


    2015 marked the 25th anniversary of the commercial use and availability of genetically modified crops. The area of planted biotech crops cultivated globally occupies a cumulative two billion hectares, equivalent to twice the land size of China or the United States. Foods derived from genetically modified plants are widely consumed in many countries and genetically modified soybean protein is extensively used in processed foods throughout the industrialised countries. Genetically modified food technology offers a possible solution to meet current and future challenges in food and medicine. Yet there is a strong undercurrent of anxiety that genetically modified foods are unsafe for human consumption, sometimes fuelled by criticisms based on little or no firm evidence. This has resulted in some countries turning away food destined for famine relief because of the perceived health risks of genetically modified foods. The major concerns include their possible allergenicity and toxicity despite the vigorous testing of genetically modified foods prior to marketing approval. It is imperative that scientists engage the public in a constructive evidence-based dialogue to address these concerns. At the same time, improved validated ways to test the safety of new foods should be developed. A post-launch strategy should be established routinely to allay concerns. Mandatory labelling of genetically modified ingredients should be adopted for the sake of transparency. Such ingredient listing and information facilitate tracing and recall if required.

  11. Genetics Home Reference: proopiomelanocortin deficiency (United States)

    ... individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes . Low levels of ACTH ... to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency POMC deficiency is a rare ...

  12. Protocols in human molecular genetics

    National Research Council Canada - National Science Library

    Mathew, Christopher G


    ... sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chromosome, the mapping of many genes responsible for human inherited disorders, genet...

  13. The genetics of plant metabolism

    NARCIS (Netherlands)

    Keurentjes, Joost J.B.; Fu, Jingyuan; Vos, C.H. Ric de; Lommen, Arjen; Hall, Robert D.; Bino, Raoul J.; Plas, Linus H.W. van der; Jansen, Ritsert C.; Vreugdenhil, Dick; Koornneef, Maarten; Hall, RD; Bino, RJ; van der Plas, LHW


    Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on

  14. Genetic testing in cardiovascular diseases. (United States)

    Arndt, Anne-Karin; MacRae, Calum A


    The review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges. Among the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care. The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.

  15. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

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


    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...

  16. Defining asthma in genetic studies

    NARCIS (Netherlands)

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


    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

  17. Reverse genetics of avian metapneumoviruses (United States)

    An overview of avian metapneumovirus (aMPV) infection in turkeys and development of a reverse genetics system for aMPV subgroup C (aMPV-C) virus will be presented. By using reverse genetics technology, we generated recombinant aMPV-C viruses containing a different length of glycoprotein (G) gene or...

  18. Landscape genetics and limiting factors (United States)

    Samuel A. Cushman; Andrew J. Shirk; Erin L. Landguth


    Population connectivity is mediated by the movement of organisms or propagules through landscapes. However, little is known about how variation in the pattern of landscape mosaics affects the detectability of landscape genetic relationships. The goal of this paper is to explore the impacts of limiting factors on landscape genetic processes using simulation...


    African Journals Online (AJOL)

    sorghum (Sorghum bicolor (L.) Moench germplasm from Ethiopia and Eritrea. Genetic. Resources and Crop Evolution 46:273-284. Ayele, M. 1999. Genetic diversity in tef. (Eragrostis tef (Zucc) Trotter) for osmotic adjustment, root traits, and Amplified. Fragment Length Polymorphism. PhD Thesis,. Texas Tech University, USA.

  20. Genetic diversity, inbreeding and cancer. (United States)

    Ujvari, Beata; Klaassen, Marcel; Raven, Nynke; Russell, Tracey; Vittecoq, Marion; Hamede, Rodrigo; Thomas, Frédéric; Madsen, Thomas


    Genetic diversity is essential for adaptive capacities, providing organisms with the potential of successfully responding to intrinsic and extrinsic challenges. Although a clear reciprocal link between genetic diversity and resistance to parasites and pathogens has been established across taxa, the impact of loss of genetic diversity by inbreeding on the emergence and progression of non-communicable diseases, such as cancer, has been overlooked. Here we provide an overview of such associations and show that low genetic diversity and inbreeding associate with an increased risk of cancer in both humans and animals. Cancer being a multifaceted disease, loss of genetic diversity can directly (via accumulation of oncogenic homozygous mutations) and indirectly (via increased susceptibility to oncogenic pathogens) impact abnormal cell emergence and escape of immune surveillance. The observed link between reduced genetic diversity and cancer in wildlife may further imperil the long-term survival of numerous endangered species, highlighting the need to consider the impact of cancer in conservation biology. Finally, the somewhat incongruent data originating from human studies suggest that the association between genetic diversity and cancer development is multifactorial and may be tumour specific. Further studies are therefore crucial in order to elucidate the underpinnings of the interactions between genetic diversity, inbreeding and cancer. © 2018 The Author(s).

  1. Genetic Mapping in Human Disease


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


    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.

  2. The genetic background to PTSD

    NARCIS (Netherlands)

    Broekman, B. F. P.; Olff, M.; Boer, F.


    Although extensive research has already been done on the genetic bases of psychiatric disorders, little is known about polygenetic influences in posttraumatic stress disorder (PTSD). This article reviews molecular genetic studies relating to PTSD that were found in a literature search in Medline,

  3. Medical Genetics In Clinical Practice

    African Journals Online (AJOL)


    Aug 24, 1974 ... Laboratory facilities for cytogenetic and biochemical investigation are an essential feature of such a genetic department. The purpose of this article is to review the clinical activities during 1973 of the Department of Human. Genetics, University of Cape Town, to present an analysis of the medical problems ...

  4. Genetic comorbidities in Parkinson's disease

    NARCIS (Netherlands)

    Nalls, Mike A.; Saad, Mohamad; Noyce, Alastair J.; Keller, Margaux F.; Schrag, Anette; Bestwick, Jonathan P.; Traynor, Bryan J.; Gibbs, J. Raphael; Hernandez, Dena G.; Cookson, Mark R.; Morris, Huw R.; Williams, Nigel; Gasser, Thomas; Heutink, Peter; Wood, Nick; Hardy, John; Martinez, Maria; Singleton, Andrew B.; Nalls, Mike; Plagnol, Vincent; Sharma, Manu; Sheerin, Una-Marie; Simón-Sánchez, Javier; Schulte, Claudia; Lesage, Suzanne; Sveinbjörnsdóttir, Sigurlaug; Arepalli, Sampath; Barker, Roger; Ben-Shlomo, Yoav; Berendse, Henk W.; Berg, Daniela; Bhatia, Kailash; de Bie, Rob M. A.; Biffi, Alessandro; Bloem, Bas; Bochdanovits, Zoltan; Bonin, Michael; Bras, Jose M.; Brockmann, Kathrin; Brooks, Janet; Burn, David J.; Charlesworth, Gavin; Chen, Honglei; Chinnery, Patrick F.; Chong, Sean; Clarke, Carl E.; Cooper, J. Mark; Corvol, Jean Christophe; Counsell, Carl; Damier, Philippe; Dartigues, Jean-François; Deloukas, Panos; Deuschl, Günther; Dexter, David T.; van Dijk, Karin D.; Dillman, Allissa; Durif, Frank; Dürr, Alexandra; Edkins, Sarah; Evans, Jonathan R.; Foltynie, Thomas; Gao, Jianjun; Gardner, Michelle; Goate, Alison; Gray, Emma; Guerreiro, Rita; Gústafsson, Ómar; Harris, Clare; van Hilten, Jacobus J.; Hofman, Albert; Hollenbeck, Albert; Holton, Janice; Hu, Michele; Huang, Xuemei; Huber, Heiko; Hudson, Gavin; Hunt, Sarah E.; Huttenlocher, Johanna; Illig, Thomas; Jónsson, Pálmi V.; Lambert, Jean-Charles; Langford, Cordelia; Lees, Andrew; Lichtner, Peter; Limousin, Patricia; Lopez, Grisel; Lorenz, Delia; McNeill, Alisdair; Moorby, Catriona; Moore, Matthew; Morrison, Karen E.; Mudanohwo, Ese; O'Sullivan, Sean S.; Pearson, Justin; Perlmutter, Joel S.; Pétursson, Hjörvar; Pollak, Pierre; Post, Bart; Potter, Simon; Ravina, Bernard; Revesz, Tamas; Riess, Olaf; Rivadeneira, Fernando; Rizzu, Patrizia; Ryten, Mina; Sawcer, Stephen; Schapira, Anthony; Scheffer, Hans; Shaw, Karen; Shoulson, Ira; Sidransky, Ellen; Smith, Colin; Spencer, Chris C. A.; Stefánsson, Hreinn; Steinberg, Stacy; Stockton, Joanna D.; Strange, Amy; Talbot, Kevin; Tanner, Carlie M.; Tashakkori-Ghanbaria, Avazeh; Tison, François; Trabzuni, Daniah; Uitterlinden, André G.; Velseboer, Daan; Vidailhet, Marie; Walker, Robert; van de Warrenburg, Bart; Wickremaratchi, Mirdhu; Williams-Gray, Caroline H.; Winder-Rhodes, Sophie; Stefánsson, Kári; Brice, Alexis; Wood, Nicholas W.; Donnelly, Peter; Barroso, Ines; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Su, Zhan; Vukcevic, Damjan; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; McCarthy, Mark I.; Nalls, Michael A.; Zonderman, Alan B.; Ferrucci, Luigi; Johnson, Robert; Longo, Dan L.; O'Brien, Richard; Traynor, Bryan; Troncoso, Juan; van der Brug, Marcel; Zielke, Ronald H.; Weale, Michael E.; Ramasamy, Adaikalavan; Walker, Rober


    Parkinson's disease (PD) has a number of known genetic risk factors. Clinical and epidemiological studies have suggested the existence of intermediate factors that may be associated with additional risk of PD. We construct genetic risk profiles for additional epidemiological and clinical factors

  5. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    methods in genetics teaching, or develop- ment/modification of software that could be useful in genetics research or teaching. Papers in this category will have less than. 2500 words text, less than 25 references and no abstract. There will be no ...

  6. Recent advances in epilepsy genetics. (United States)

    Orsini, Alessandro; Zara, Federico; Striano, Pasquale


    In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Behavior genetics: Bees as model

    International Nuclear Information System (INIS)

    Nates Parra, Guiomar


    The honeybee Apis mellifera (Apidae) is a model widely used in behavior because of its elaborate social life requiring coordinate actions among the members of the society. Within a colony, division of labor, the performance of tasks by different individuals, follows genetically determined physiological changes that go along with aging. Modern advances in tools of molecular biology and genomics, as well as the sequentiation of A. mellifera genome, have enabled a better understanding of honeybee behavior, in particular social behavior. Numerous studies show that aspects of worker behavior are genetically determined, including defensive, hygienic, reproductive and foraging behavior. For example, genetic diversity is associated with specialization to collect water, nectar and pollen. Also, control of worker reproduction is associated with genetic differences. In this paper, I review the methods and the main results from the study of the genetic and genomic basis of some behaviors in bees.

  8. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

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


    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...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses......, 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...

  9. Genetic View To Stroke Occurrence

    Directory of Open Access Journals (Sweden)

    Sadegh Yoosefee


    Full Text Available Stroke is the third leading cause of death. The role of genetics in the etiology and development of this disease is undeniable. As a result of inadequate previous research, more and more studies in the field of genetics are necessary to identify pathways involved in the pathogenesis of stroke, which in turn, may lead to new therapeutic approaches. However, due to the multifactorial nature of stroke and the few studies conducted in this field, genetic diversity is able to predict only a small fraction of the risk of disease. On the other hand, studies have shown genetically different architecture for different types of stroke, and finally pharmacogenomics as an important part of personalized medicine approach, is influenced by genetic studies, all of which confirm the need of addressing the topic by researchers.

  10. Quantitative genetics of disease traits. (United States)

    Wray, N R; Visscher, P M


    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. © 2015 Blackwell Verlag GmbH.

  11. Genetic testing in clinical practice. (United States)

    Lamberts, Steven W J; Uitterlinden, André G


    In the practice of internal medicine, the value of genetic testing in common (mono)genetic diseases such as familial hemochromatosis, hypercholesterolemia, Mediterranean fever, and thrombophilia is limited. The genotype insufficiently predicts the phenotype because of the powerful effects of other modifying genes, environmental influences, and lifestyle factors. Many common diseases, including diabetes mellitus, osteoporosis, and cardiovascular disease, have strong genetic influences but are called complex genetic traits. The underlying genetic factors are currently investigated using new molecular tools such as genome-wide association studies, analyzing up to 500,000 markers in huge numbers of patients. Many new (often unexpected) markers have been identified, and in many instances their functional significance is unknown. Genomic profiles play a rapidly growing role in the field of pharmacogenomics. A number of recently identified pharmacogenomic biomarkers are helpful to predict drug-related toxic effects.

  12. Genetic Aspects of Nephrotic Syndrome

    DEFF Research Database (Denmark)

    Joshi, Shivani

    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...... with SSNS are rare, but do indicate a genetic predisposition. In study III we investigated a potential genetic linkage in 9 European SSNS families with at least two affected siblings. Using SNP6 whole genome linkage analysis we could establish linkage of the disease phenotype to chromosome 15 with a maximum...... immunosuppressive treatment in future patients with the same genotype. Our findings also demonstrate that inheritance of different alleles at independent genetic loci in NS may contribute to the disease phenotype. SSNS is clinically distinct from SRNS and its pathogenesis is still unclear. Our study showed linkage...

  13. Genetic predisposition to heart failure. (United States)

    Pasotti, Michele; Repetto, Alessandra; Tavazzi, Luigi; Arbustini, Eloisa


    This review describes the numerous and complex molecular systems that are either known players or candidates in heart failure(HF). All systems whose genetic background has been investigated to date in HF are listed and discussed. Discussion also includes functional notes and known genetic polymorphisms already investigated in HF or candidates that have not yet been investigated. Despite substantial research on HF, relatively few coordinated studies have been conducted that assign precise risk to specific genetic polymorphisms. Identification of risk associated with genetic variations and subsequent translation of genetic knowledge into clinical practice will likely progress only in cases of large coordinated studies based on identical standards. The potential result will be a more accurate definition of HF identified as an evolving complex of cardiovascular diseases.

  14. Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries. (United States)

    Regier, Debra S; Ferreira, Carlos R; Hart, Suzanne; Hadley, Donald W; Muenke, Maximilian


    Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  15. Reverse genetics with animal viruses. NSV reverse genetics

    International Nuclear Information System (INIS)

    Mebatsion, T.


    New strategies to genetically manipulate the genomes of several important animal pathogens have been established in recent years. This article focuses on the reverse genetics techniques, which enables genetic manipulation of the genomes of non-segmented negative-sense RNA viruses. Recovery of a negative-sense RNA virus entirely from cDNA was first achieved for rabies virus in 1994. Since then, reverse genetic systems have been established for several pathogens of medical and veterinary importance. Based on the reverse genetics technique, it is now possible to design safe and more effective live attenuated vaccines against important viral agents. In addition, genetically tagged recombinant viruses can be designed to facilitate serological differentiation of vaccinated animals from infected animals. The approach of delivering protective immunogens of different pathogens using a single vector was made possible with the introduction of the reverse genetics system, and these novel broad-spectrum vaccine vectors have potential applications in improving animal health in developing countries. (author)

  16. Integrating Genetics and Social Science: Genetic Risk Scores (United States)

    Belsky, Daniel W.; Israel, Salomon


    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. PMID:25343363

  17. [Genetic questions of hemophilia]. (United States)

    Weissbach, G; Lenk, H


    Haemophilia A and B are X-chromosomally recessively inherited. In the GDR the frequency of these genuine haemophilias is 1 to 6,500 male births. The frequency of sporadic haemophilias is still in dispute and certainly depends on the intensity of genealogic examinations. The mutation rate for haemophilia A is estimated to 1.3 to 3.6 x 10(-5). In secure female conductors the lyonisation evokes a considerable dispersion of the factor VIII coagulation activity, wherefore this is able to prove also only a small proportion, about 20-50%. The lyonisation apparently takes place in a critical anlage of less than 32 cells. Bleeding female conductors are in the first place the sequel of extreme lyonisation, more infrequently homozygotes or such ones with anomalies of the X-chromosomes. The state of female conductors is best characterized by th discrepancy between decreased factor VIII coagulation activity and the normal factor VIII associated antigen. At present numerous variants of this female conductor test are used, particularly concerning its calculatory evaluation. In many places only quotients from the two parameters are formed. Discriminancy-analytical methods brings without doubt better results. They allow to coordinate a certain probability to each result, which with the help of genealogic criteria may be combined to an evidence. Immunochemical determinations of the factor IX are certainly not of value for the proof of the state of female conductors of haemophilia B. The prenatal diagnostics of sex is recommended for pregnant conductors by amniocentesis in the 14th week of pregnancy. Only in few countries the prenatal diagnostics of haemophilia is possible. In blood tests taken by means of fetoscopy beginning with the 18th week of pregnancy the factor VIII coagulation property is determined by immunoradiometrical methods or recently even by means of a coagulation method. Though for the genetic consultation only female conductors in the reproductive phase are of


    Directory of Open Access Journals (Sweden)

    L. V. Osadcha


    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

  19. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 80; Issue 1. Testing quantum dynamics in genetic information processing ... Keywords. assembly; computation; database search; DNA replication; genetic information; nucleotide base; polymerase enzyme; quantum coherence; quantum mechanics; quantum superposition.

  20. Frequently Asked Questions about Genetic Counseling (United States)

    ... Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources Smithsonian NHGRI Genome Exhibition Talking Glossary: English Talking Glossary: Español Issues Coverage & Reimbursement of Genetic ...

  1. Frequently Asked Questions about Genetic Disorders (United States)

    ... Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources Smithsonian NHGRI Genome Exhibition Talking Glossary: English Talking Glossary: Español Issues Coverage & Reimbursement of Genetic ...

  2. Genetics Home Reference: lactate dehydrogenase deficiency (United States)

    ... this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with ... Resources Genetic Testing (2 links) Genetic Testing Registry: Glycogen storage disease XI Genetic Testing Registry: Lactate dehydrogenase B deficiency ...

  3. Genetics 101 --The Hereditary Material of Life (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 ...

  4. Safflower: genetics and breeding

    International Nuclear Information System (INIS)

    Knowles, P.F.


    A review of genetic studies related to the breeding of improved cultivars of safflower (Carthamus tinctorius L.) indicated that it was possible to modify the following over a wide range: duration of the rosette stage, stem length, branching habit, degree of spininess, head number, head size, flower morphology, mating system, seed size, hull thickness and thereby oil and protein contents, and fatty acid composition of the oil. Safflower breeders have concentrated most of their efforts on identifying and evaluating the great range of variability in cultivated safflower and its closely related wild species, and not on exploring means to increase variability. Limited experiments with gamma rays and ethyl methanesulphonate indicated that additional variability could be induced. Mutagenic agents should be used to obtain the following: resistance to foliar diseases where resistant germplasm is not available, increased levels of resistance to Phytophthora root rot, resistance to dodder and orobanche, resistance to insect pests, earlier maturity, and additional modifications in the fatty acid composition of the oil. (author)

  5. Genetics of Endometrial Cancers

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Okuda


    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.

  6. Genetically conditioned male sterility

    International Nuclear Information System (INIS)

    Gottschalk, W.


    A survey is given of two different types of genetically controlled male sterility in higher plants. 'Functional' male sterility is due to the action of mutated genes causing a misdifferentiation of the growing points in different specific ways. Under the influence of the genes of this group either the stamens or the archespore tissues are not differentiated. In other mutants functionable male germ cells are produced but cannot be used for fertilizing the egg cells because the anthers remain closed or anthers and stigma become spatially separated from each other. Other genes of the group are responsible for the transformation of stamens into carpels, i.e. for a change of the hermaphrodite flower into a unisexually female one. A second type of male sterility is due to the action of ms genes influencing the course of micro-sporogenesis directly. They cause the breakdown of this process in a specific meiotic stage characteristic for each gene of the group. This breakdown is introduced by the degeneration of PMCs, microspores, or pollen grains preventing the production of male germ cells. The female sex organs remain uninfluenced. (author)

  7. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič


    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  8. Department of Genetics

    International Nuclear Information System (INIS)


    Full text: There are five independent research groups in the Department conducting the following lines of investigations: 1. Regulation of sulfur amino acid metabolism in fungi, focusing on cloning and characterisation of structural and regulatory genes in Aspergillus nidulans. 2. Identification and characterization of S. cerevisiae genes involved in the regulation of tRNA biosynthesis and control of translation fidelity in cytosolic and mitochondrial systems. 3. Mechanism of DNA repair and mutagenesis by using mutations in DNA polymerases, mismatch repair and radiation sensitivity genes to study their influence on the generation of mutations in nondividing, resting cells (adaptive mutations) in S. cerevisiae. 4. Pleiotropic effects of the S. cerevisiae IRR1 gene, particularily on colony formation and sister chromatid cohesion. 5. Regulation of heme synthesis in S. cerevisiae: the analysis of structure-function relationship of ferrochelatase (the last enzyme of the pathway). 6. Role of RSP5 the ubiquitin-protein ligase of S. cerevisiae in protein import to mitochondria and endocytosis of plasma membrane proteins. 7. Molecular analysis of the glucose-6-phosphate dehydrogenase gene in Polish 6-GDP deficient subjects. 8. Genetic and phylogenic studies of the Polish Bison bonasus population with the use of nuclear and mitochondrial markers

  9. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes


    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.

  10. Genetics and alcoholism. (United States)

    Edenberg, Howard J; Foroud, Tatiana


    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.

  11. Recognizing genetic hemochromatosis. (United States)

    Welch, F J


    This article reviews the disease process hemochromatosis, which is now recognized as one of the most common genetic disorders. Hemochromatosis is transmitted as autosomal recessive, and occurs in 3% of persons of Anglo-Saxon descent. It is caused by an inappropriate increase in intestinal iron absorption resulting in deposition of excess iron in tissues. Hemochromatosis usually presents in males in their 40s, and females much later. The most frequent initial symptoms are weakness, lassitude, weight loss, and symptoms related to the onset of diabetes mellitus. The classical triad of cirrhosis, diabetes mellitus, and skin pigmentation occurs late in the disease. There is debate over the value of mass screening for the disorder; however, it is recommended that once a case has been identified family members at risk should be screened. Therapy is directed at removing excess iron by phlebotomy. By instituting early therapy, many of the long-term complications, including cirrhosis and hepatoma, can be prevented. It is imperative that physicians learn to recognize early signs and symptoms of hemochromatosis so that treated patients can expect a normal life span with minimal medical intervention.

  12. Genetic epidemiology of eating disorders. (United States)

    Bulik, Cynthia M; Kleiman, Susan C; Yilmaz, Zeynep


    We capture recent findings in the field of genetic epidemiology of eating disorders. As analytic techniques evolve for twin, population, and molecular genetic studies, new findings emerge at an accelerated pace. We present the current status of knowledge regarding the role of genetic and environmental factors that influence risk for eating disorders. We focus on novel findings from twin studies, population studies using genetically informative designs, and molecular genetic studies. Over the past 2 years, research in this area has yielded insights into: comorbidity with other psychiatric and medical disorders and with metabolic traits; developmental factors associated with the emergence of eating disorders; and the molecular genetics of anorexia nervosa. Insights from genetic epidemiology provide an important explanatory model for patients with eating disorders, family members, and clinicians. Understanding core biological determinants that explain the severity and persistence of the illnesses, their frequent co-occurrence with other conditions, and their familial patterns raises awareness and increases compassion for individuals living with these disorders. Large-scale genomic studies are currently underway. Ultimately, this domain of research may pave the way to greater understanding of the underlying neurobiology and inform the development of novel and effective interventions.

  13. On evolution operators of genetic coalgebras. (United States)

    Paniello, Irene


    We characterize evolutionary operators acting on coalgebras with genetic realization modeling the backwards genetic inheritance in Mendelian genetic systems. This characterization is made in terms of the different slices of the cubic stochastic matrix of type (1,2) given by the transition probabilities defining the genetic coalgebra comultiplication. We use the obtained characterization to describe all possible equilibrium states a genetic population can reach when tracing the genetic information one generation back.

  14. Overcoming challenges in engineering the genetic code


    Lajoie, MJ; Söll, D; Church, GM


    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,...

  15. An investigation of genetic algorithms

    International Nuclear Information System (INIS)

    Douglas, S.R.


    Genetic algorithms mimic biological evolution by natural selection in their search for better individuals within a changing population. they can be used as efficient optimizers. This report discusses the developing field of genetic algorithms. It gives a simple example of the search process and introduces the concept of schema. It also discusses modifications to the basic genetic algorithm that result in species and niche formation, in machine learning and artificial evolution of computer programs, and in the streamlining of human-computer interaction. (author). 3 refs., 1 tab., 2 figs

  16. Deceptiveness and genetic algorithm dynamics

    Energy Technology Data Exchange (ETDEWEB)

    Liepins, G.E. (Oak Ridge National Lab., TN (USA)); Vose, M.D. (Tennessee Univ., Knoxville, TN (USA))


    We address deceptiveness, one of at least four reasons genetic algorithms can fail to converge to function optima. We construct fully deceptive functions and other functions of intermediate deceptiveness. For the fully deceptive functions of our construction, we generate linear transformations that induce changes of representation to render the functions fully easy. We further model genetic algorithm selection recombination as the interleaving of linear and quadratic operators. Spectral analysis of the underlying matrices allows us to draw preliminary conclusions about fixed points and their stability. We also obtain an explicit formula relating the nonuniform Walsh transform to the dynamics of genetic search. 21 refs.

  17. [Genetics and epigenetics in autism]. (United States)

    Nakayama, Atsuo; Masaki, Shiego; Aoki, Eiko


    Autism is a behaviorally defined syndrome characterized by impaired social interaction and communication, and restricted, stereotyped interests and behaviors. Several lines of evidence support the contention that genetic factors are a large component to autism etiology. However, in spite of vigorous genetic studies, no single causative or susceptibility gene common in autism has been identified. Thus multiple susceptibility genes in interaction are considered to account for the disorder. Furthermore, environmental risk factors can accelerate the autism development of. Recent advances in understanding the epigenetic regulation may shed light on the interaction among multiple genetic factors and environmental factors.

  18. Genetic analysis of Schizosaccharomyces pombe

    DEFF Research Database (Denmark)

    Ekwall, Karl; Thon, Genevieve


    In this introduction we discuss some basic genetic tools and techniques that are used with the fission yeast Schizosaccharomyces pombe. Genes commonly used for selection or as reporters are discussed, with an emphasis on genes that permit counterselection, intragenic complementation, or colony......-color assays. S. pombe is most stable as a haploid organism. We describe its mating-type system, how to perform genetic crosses and methods for selecting and propagating diploids. We discuss the relative merits of tetrad dissection and random spore preparation in strain construction and genetic analyses...

  19. Genetics and Forest Seed Handling

    DEFF Research Database (Denmark)

    Schmidt, Lars Holger


    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...

  20. Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM). (United States)


    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.

  1. Alfalfa domestication history, genetic diversity and genetic resources


    Prosperi, Jean-Marie; Jenczewski, Eric; Muller, Marie-Helene; Fourtier, Stéphane; Sampoux, Jean-Paul; Ronfort, Joelle


    AGAP : GE²pop; The domestication history of alfalfa is poorly known. Here, we summarize recent results obtained from the investigation of the genetic diversity available in the Medicago sativa species complex, using different molecular markers and morphological characterization. We conclude that a large genetic diversity is still available in the wild form of the species, but original populations are restricted to a relatively small geographic area and in some instances submitted to gene flow...

  2. Genetics Home Reference: 47,XYY syndrome (United States)

    ... These problems include attention deficit hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder , ... about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  3. Genetics Home Reference: ataxia neuropathy spectrum (United States)

    ... can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or ... information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  4. Genetics Home Reference: Klippel-Trenaunay syndrome (United States)

    ... which a genetic condition can be inherited? More about Inheriting Genetic Conditions ... Capillary Malformation (Port Wine Stain) Cincinnati Children's Hospital Medical Center: Capillary Lymphatic ...

  5. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta


    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.

  6. Genetics Home Reference: CHOPS syndrome (United States)

    ... Defects Patient Support and Advocacy Resources (4 links) American Heart Association Contact a Family: Heart Defects The Arc: For People with Intellectual and Developmental Disabilities University of Kansas Genetics Education Center Resource List: ...

  7. Dissecting genetic effects with imprinting

    Directory of Open Access Journals (Sweden)

    José M eÁlvarez-Castro


    Full Text Available Models of genetic effects are mathematical representations of a genotype-to-phenotype (GP map that, rather than accounting for a raw map assigning phenotypes to genotypes, rely on parameters with deliberate evolutionary meaning—additive and interaction effects. In this article, the conceptual particularities of genetic imprinting and their implications on models of genetic effects are analyzed. The molecular mechanisms by which imprinted loci affect the relationship between genotypes and phenotypes are known to be singular. Despite its epigenetic nature, the (parent-of-origin-dependent way in which the alleles of imprinted genes are modified and segregate in each generation is precisely determined, and thus amenable to be represented through conventional models of genetic effects. The Natural and Orthogonal Interactions (NOIA model framework is here extended to account for imprinting as a tool for a more thorough analysis of the evolutionary implications of this phenomenon. The resulting theory improves and generalizes previous proposals for modelling imprinting.

  8. Genetics Home Reference: essential thrombocythemia (United States)

    ... splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. ... deficiency Depression Pelizaeus-Merzbacher-like disease type 1 All New & ...

  9. Genetics Home Reference: spondylocostal dysostosis (United States)

    ... Tube Defects Health Topic: Scoliosis Health Topic: Spina Bifida Health Topic: Spine Injuries and Disorders Genetic and Rare Diseases Information Center (1 link) Spondylocostal dysostosis ... Educational Resources (7 links) Cleveland Clinic: ...

  10. Genetics Home Reference: Stormorken syndrome (United States)

    ... lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). ... thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5):367-74. ...

  11. Genetics Home Reference: epidermolytic hyperkeratosis (United States)

    ... link) The Swedish Information Centre for Rare Diseases: Ichthyosis General Information from MedlinePlus (5 links) Diagnostic Tests ... congenita of Brocq bullous ichthyosiform erythroderma EHK epidermolytic ichthyosis hyperkeratosis, epidermolytic Related Information How are genetic conditions ...

  12. Genetics Home Reference: harlequin ichthyosis (United States)

    ... Facebook Twitter Home Health Conditions Harlequin ichthyosis Harlequin ichthyosis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Harlequin ichthyosis is a severe genetic disorder that mainly affects ...

  13. Genetics Home Reference: androgenetic alopecia (United States)

    ... ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight ... hair loss. Other hormonal, environmental, and genetic factors that have not been ...

  14. Genetics Home Reference: ovarian cancer (United States)

    ... single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor ... of the ovary malignant tumor of the ovary ovarian carcinoma Related Information How are genetic conditions and genes ...

  15. Genetics Home Reference: Darier disease (United States)

    ... England, and 1 in 100,000 people in Denmark. Related Information What information about a genetic condition ... gene. These cases occur in people with no history of the disorder in their family. The linear ...

  16. Genetics Home Reference: FG syndrome (United States)

    ... genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ...

  17. Genetics Home Reference: spondylothoracic dysostosis (United States)

    ... not occur properly, which results in malformation and fusion of the bones of the spine and ribs ... 2010 Nov 23. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  18. Genetics Home Reference: prolidase deficiency (United States)

    ... instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are ... Names for This Condition hyperimidodipeptiduria imidodipeptidase deficiency PD peptidase deficiency Related Information How are genetic conditions and ...

  19. Genetics Home Reference: DOORS syndrome (United States)

    ... This Page Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with ... M. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. ...

  20. Genetics Home Reference: Kuskokwim syndrome (United States)

    ... region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome , contractures most commonly affect ... syndrome 1 General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  1. Preimplantation diagnosis of genetic diseases

    Directory of Open Access Journals (Sweden)

    Adiga S


    Full Text Available One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the genetic conditions in the embryos before implantation in a setting of in vitro fertilization. Polymerase chain reaction and fluorescence in situ hybridization are the two common techniques employed on a single or two cells obtained via embryo biopsy. The couple who seek in vitro fertilization may screen their embryos for aneuploidy and the couple at risk for a monogenic disorder but averse to abortion of the affected fetuses after prenatal diagnosis, are likely to be the best candidates to undergo this procedure. This article reviews the technique, indications, benefits, and limitations of pre-implantation genetic testing in clinical practice.

  2. sexual dimorphism and genetic correlations

    Indian Academy of Sciences (India)

    Claude Moreteau, Helene Legout and Brigitte Moreteau. J. Genet. 90, 295–302. Table 1. Correlations between wing and thorax length at the within (n = 420) and between line level (n = 30). Temperature. Within line. Between line. ◦. C. Female.

  3. What Froze the Genetic Code? (United States)

    Ribas de Pouplana, Lluís; Torres, Adrian Gabriel; Rafels-Ybern, Àlbert


    The frozen accident theory of the Genetic Code was a proposal by Francis Crick that attempted to explain the universal nature of the Genetic Code and the fact that it only contains information for twenty amino acids. Fifty years later, it is clear that variations to the universal Genetic Code exist in nature and that translation is not limited to twenty amino acids. However, given the astonishing diversity of life on earth, and the extended evolutionary time that has taken place since the emergence of the extant Genetic Code, the idea that the translation apparatus is for the most part immobile remains true. Here, we will offer a potential explanation to the reason why the code has remained mostly stable for over three billion years, and discuss some of the mechanisms that allow species to overcome the intrinsic functional limitations of the protein synthesis machinery.

  4. Genetics Home Reference: Clouston syndrome (United States)

    ... junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  5. Genetics Home Reference: Christianson syndrome (United States)

    ... acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  6. Genetics Home Reference: Brugada syndrome (United States)

    ... sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  7. Genetics Home Reference: Andermann syndrome (United States)

    ... cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  8. Genetics Home Reference: gnathodiaphyseal dysplasia (United States)

    ... activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium- ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  9. Genetics Home Reference: isolated hyperchlorhidrosis (United States)

    ... molecule (bicarbonate ion) and a positively charged hydrogen atom (known as a proton). The presence of protons ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  10. Genetics Home Reference: Brody myopathy (United States)

    ... relaxation by storing and releasing positively charged calcium atoms (calcium ions). When calcium ions are transported out ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  11. Genetics Home Reference: familial hyperaldosteronism (United States)

    ... channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  12. Genetics Home Reference: Bartter syndrome (United States)

    ... transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  13. Genetics Home Reference: essential tremor (United States)

    ... may be aggravated by emotional stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature extremes. Essential tremor ... 6. Review. Citation on PubMed Testa CM. Key issues in essential tremor genetics research: Where are we ...

  14. Genetics Home Reference: periventricular heterotopia (United States)

    ... mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some ... if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  15. Genetics Home Reference: retroperitoneal fibrosis (United States)

    ... Retroperitoneal fibrosis: a clinicopathologic study with respect to immunoglobulin G4. Am J Surg Pathol. 2009 Dec;33(12):1833-9. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  16. Genetics Home Reference: Graves disease (United States)

    ... Tomer Y. Cutting edge: the etiology of autoimmune thyroid diseases. Clin Rev Allergy Immunol. 2011 Oct;41(2): ... The search for the genetic contribution to autoimmune thyroid disease: the never ending story? Brief Funct Genomics. 2011 ...

  17. Genetics Home Reference: Hashimoto thyroiditis (United States)

    ... for This Page Dong YH, Fu DG. Autoimmune thyroid disease: mechanism, genetics and current knowledge. Eur Rev Med ... Tomer Y. Cutting edge: the etiology of autoimmune thyroid diseases. Clin Rev Allergy Immunol. 2011 Oct;41(2): ...

  18. Genetics Home Reference: Joubert syndrome (United States)

    ... such as Ashkenazi Jewish, French-Canadian, and Hutterite populations. Related Information What information about a genetic condition ... of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. ...

  19. Genetics Home Reference: familial porencephaly (United States)

    ... Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr ... disorder Leprosy Isolated sulfite oxidase deficiency All New & Updated ...

  20. What Froze the Genetic Code?

    Directory of Open Access Journals (Sweden)

    Lluís Ribas de Pouplana


    Full Text Available The frozen accident theory of the Genetic Code was a proposal by Francis Crick that attempted to explain the universal nature of the Genetic Code and the fact that it only contains information for twenty amino acids. Fifty years later, it is clear that variations to the universal Genetic Code exist in nature and that translation is not limited to twenty amino acids. However, given the astonishing diversity of life on earth, and the extended evolutionary time that has taken place since the emergence of the extant Genetic Code, the idea that the translation apparatus is for the most part immobile remains true. Here, we will offer a potential explanation to the reason why the code has remained mostly stable for over three billion years, and discuss some of the mechanisms that allow species to overcome the intrinsic functional limitations of the protein synthesis machinery.


    Directory of Open Access Journals (Sweden)

    Fatma Ebru KOKU


    Full Text Available As participation in both amateur and professional sports increases, so does the importance of sports performance and the factors influencing it. Determinants of success in sports can be classified as training, genetic, epigenetic, dietary, motivational, equipment and other environmental factors. The effect of genetics on sports performance and skill has been examined for many years. Autosomal genes, mitochondrial DNA and various genes located in the Y chromosome have all been associated with sports performance. It is not possible to link physical performance to a single genetic polymorphism. Genes that have been most extensively studied in their relation to performance include ACE, ACTN3, ADRA2A, ADRB2, PPARA, PPARGC1A, AMPD1, HIF1A, NOS3, BDKRB2, VEGFR2 and VEGFA. For the time being, genetic screening tests may be useful in determining the weaknesses and strengths of a sportsperson, but not in predicting athletic success.

  2. Genetics Home Reference: Donohue syndrome (United States)

    ... Genetic Testing Registry: Leprechaunism syndrome Other Diagnosis and Management Resources (1 link) GeneReview: INSR-Related Severe Syndromic Insulin Resistance General Information from MedlinePlus (5 links) Diagnostic Tests ...

  3. How Are Genetic Conditions Diagnosed? (United States)

    ... geneticists and other healthcare providers. The Agency for Healthcare Research and Quality’s (AHRQ) National Guideline Clearinghouse has compiled screening, diagnosis, treatment, and management guidelines for many genetic disorders. GeneReviews , a resource ...

  4. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    pdf. Bhandawat A., Sharma V., Sharma H., Sood A. and Sharma R. K. 2014 Development and crosstransferability of functionally relevant microsatellite markers in Dendrocalamus latiflorus and related bamboo species. J. Genet. 93, e48–e55.

  5. Genetics Home Reference: Waardenburg syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  6. Genetics Home Reference: ocular albinism (United States)

    ... Facebook Twitter Home Health Conditions Ocular albinism Ocular albinism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ocular albinism is a genetic condition that primarily affects the ...

  7. Genetics Home Reference: Cockayne syndrome (United States)

    ... disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at ... Drug: Metronidazole Oral Encyclopedia: Failure to Thrive Encyclopedia: Microcephaly Health Topic: Growth Disorders Genetic and Rare Diseases ...

  8. Genetics Home Reference: Peters anomaly (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Health Conditions Peters anomaly Peters anomaly Printable PDF Open All Close All ...

  9. Genetics Home Reference: Fraser syndrome (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. ...

  10. Genetics Home Reference: Greenberg dysplasia (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear ...

  11. Genetics Home Reference: RAPADILINO syndrome (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... Rapadilino syndrome Hospital for Sick Children: Radial Ray Anomaly MalaCards: rapadilino syndrome March of Dimes: Cleft Lip ...

  12. Genetics, Disease Prevention and Treatment (United States)

    Skip to main content FAQ About Genetics, Disease Prevention and Treatment Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News ...

  13. Genetics Home Reference: familial candidiasis (United States)

    ... Immune System and Disorders Health Topic: Yeast Infections Genetic and Rare Diseases Information Center (1 link) Chronic mucocutaneous candidiasis (CMC) Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: CARD9 Deficiency and Other Syndromes of Susceptibility ...

  14. Genetics Home Reference: Omenn syndrome (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Omenn syndrome Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (8 ...

  15. Genetics Home Reference: osteogenesis imperfecta (United States)

    ... two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta . The milder ... for Links Data Files & API Site Map Subscribe Customer Support Copyright Privacy Accessibility FOIA Viewers & ...

  16. Genetics Home Reference: malignant hyperthermia (United States)

    ... particular ethnic groups? Genetic Changes Variations of the CACNA1S and RYR1 genes increase the risk of developing ... the condition, MHS5, results from mutations in the CACNA1S gene. These mutations are less common, causing less ...

  17. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    /90/e25.pdf. Li H., Liang Y., Sui L., Gao X. and He C. 2011 Characterization of 10 polymorphic microsatellite markers for Mediterranean blue mussel Mytilus galloprovincialis by EST database mining and cross-species amplification. J. Genet.

  18. Genetics Home Reference: primary myelofibrosis (United States)

    ... O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Analysis of the ... 8520-30. Review. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  19. Genetics Home Reference: Norrie disease (United States)

    ... J, Bonnefont JP. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003 Dec; ... 6):883-95. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  20. Genetics Home Reference: cyclic neutropenia (United States)

    ... neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004 Jun 1;103(11): ... 8):1032-41. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  1. Genetics Home Reference: hidradenitis suppurativa (United States)

    ... Garin S. Clinical characteristics of a series of 302 French patients with hidradenitis suppurativa, with an analysis of ... 2010 Oct 7. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  2. Genetic perspectives on crop domestication. (United States)

    Gross, Briana L; Olsen, Kenneth M


    The process of crop domestication has long been a topic of active research for biologists, anthropologists and others. Genetic data have proved a powerful resource for drawing inferences on questions regarding the geographical origins of crops, the numbers of independent domestication events for a given crop species, the specific molecular changes underlying domestication traits, and the nature of artificial selection during domestication and subsequent crop improvement. We would argue that these genetic inferences are fundamentally compatible with recent archaeological data that support a view of domestication as a geographically diffuse, gradual process. In this review, we summarize methodologies ranging from quantitative trait locus mapping to resequencing used in genetic analyses of crop evolution. We also highlight recent major insights regarding the timing and spatial patterning of crop domestication and the distinct genetic underpinnings of domestication, diversification and improvement traits. 2010 Elsevier Ltd. All rights reserved.

  3. Ethical issues in genetic counseling. (United States)

    Than, Nandor Gabor; Papp, Zoltan


    Genetics has made great progress in the past decades, and prenatal diagnosis, predictive genetic testing, and genetic counseling have drawn the limelight of public attention. Because the subject of genetic counseling is of crucial consequence for both the short and long term, its ethical aspects are paramount. The question is whether mankind is mature enough to use this extraordinary knowledge in the right way for the benefit of the society. In the center of ethical questions is the comprehensiveness of information provided to the couples or patients and counseling them about results and making informed educated decisions. In addition, it is crucial how sensitive personal information is treated and whether and how it should be made public. Copyright © 2017. Published by Elsevier Ltd.

  4. Genetics Home Reference: metachromatic leukodystrophy (United States)

    ... 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), ... from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ...

  5. Human genetics and sleep behavior. (United States)

    Shi, Guangsen; Wu, David; Ptáček, Louis J; Fu, Ying-Hui


    Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns. To conclude, we also discuss some of the sleep-related neurological disorders such as Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) and the potential challenges and future directions of human genetics in sleep research. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Genetics Home Reference: congenital hyperinsulinism (United States)

    ... people with congenital hyperinsulinism can also occur after eating. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  7. Genetics Home Reference: argininosuccinic aciduria (United States)

    ... aciduria My46 Trait Profile Orphanet: Argininosuccinic aciduria Screening, Technology and Research in Genetics Vanderbilt Children's Hospital (PDF) Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) ...

  8. Genetic Counseling in Military Hospitals (United States)


    mother allegedly mistreated for preeclampsia at Tripler Army Medical Center could maintain an action for medical malpractice nothwithstanding Feres.1 2...perinatologists at most military hospitals perform genetic counseling. Due to their primary responsibilities fo management of high risk pregnancies

  9. Genetics Home Reference: Grange syndrome (United States)

    ... X, Yang ML; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh ... 3):190-5. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  10. Genetics Home Reference: Dent disease (United States)

    ... collapse boxes. Description Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected ... because its features overlap with those of other kidney disorders. Related Information What information about a genetic condition ...

  11. Alcohol Alert: Genetics of Alcoholism (United States)

    ... and Reports » Alcohol Alert » Alcohol Alert Number 84 Alcohol Alert Number 84 Print Version The Genetics of ... immune defense system. Genes Encoding Enzymes Involved in Alcohol Breakdown Some of the first genes linked to ...

  12. Genetic epidemiology of Scheuermann's disease

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Nielsen, Jan


    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....

  13. Technological Innovations in Forensic Genetics

    DEFF Research Database (Denmark)

    Wienroth, Matthias; Morling, Niels; Williams, Robin


    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 expectati......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...... the participation of scientific actors in the development of anticipatory governance deliberations concerning the widening application of forensic genetics in an increasing number of criminal and civil jurisdictions....

  14. Genetic Classification of Infantile Spasms


    J Gordon Millichap


    Researchers from University of Washington, Seattle, WA, and Washington University, St Louis, MO propose a genetic and biologic classification of infantile spasms. Infantile spasms are of 2 main groups: those with known or unknown predisposing genotypes.


    Directory of Open Access Journals (Sweden)

    A. L. Osipov


    Full Text Available The basic statistical methods used in conducting the genetic analysis of human traits. We studied by segregation analysis, linkage analysis and allelic associations. Developed software for the implementation of these methods support.

  16. Genetic influence on prolonged gestation

    DEFF Research Database (Denmark)

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


    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, and the D...... factors. CONCLUSION: Maternal genes influence prolonged gestation. However, a substantial paternal genetic influence through the fetus was not found....

  17. Molecular genetics of intellectual disability


    Bessa, C.; Lopes, Fátima; Maciel, P.


    The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that seem to be most affected in intellectual disability will also be addressed. Fina...

  18. How Sensitive Is Genetic Data? (United States)

    Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene


    The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

  19. [Genetic examinations in health care]. (United States)

    Indulski, J A; Lutz, W


    Genes are one of the most important indicators of disease incidence. Almost each diseases results from incorrect function of one or more genes. The disclosure of disease genetically conditioned depends, in many cases, on the effect of a broad spectrum of different environmental factors. Screening tests for carries of defective genes play a key role in the detection of risk for genetically conditioned diseases. Screening tests carried out for many years yielded a very diversified results. Some of them, for example, the screening test for the gene responsible for Tay-Sachs disease, produced good results, whereas results of other tests, like the test for the gene responsible for crescent anaemia, proved to be unsatisfactory. Among genetically conditioned diseases, neoplastic diseases are the subject of particular interest. It is already known that these diseases may be attributed to the accumulation of genetic errors in a normal cell, and that this phenomena applies to certain categories of genes. An analysis of genetic material of persons from the families with higher cancer incidence revealed the relationship between cancer and inheritance of some defective genes. Nevertheless, it should be stressed that the development of cancer is not definitely foregone even if genetic features of cancer disease are detected in a given person. The presence of such features only indicates an inborn or acquired defect (as a result of mutation) that predisposes him/her to illness. A great progress in molecular oncology made during the last years and the development of genetic maps relevant to neoplastic diseases should contribute to the detection of such genetic markers which could facilitate the identification of persons with a higher risk for neoplastic diseases and allow to take relevant preventive measures in due time.

  20. The Genetics of Pediatric Obesity


    Chesi, Alessandra; Grant, Struan F. A.


    Obesity among children and adults has notably escalated over recent decades and represents a global major health problem. We now know that both genetics and environmental factors contribute to its complex etiology. Genome-wide association studies (GWAS) have revealed compelling genetic signals influencing obesity risk in adults. Recent reports for childhood obesity revealed that many adult loci also play a role in the pediatric setting. Childhood GWAS have uncovered novel loci below the detec...

  1. Genetic effects of natural radiation

    Energy Technology Data Exchange (ETDEWEB)

    Cohen, B.L.


    Genetic defects from mutations affect about 3% of the population. Studies of spontaneously-occurring mutations because of radiation show that the Law of Natural Selection precludes the genetic destruction of the human race. Although exposure to radiation from expanding nuclear industry could shift the occurrence of mutations a few hundredths of one percent, natural radiation causes only about 3% of all genetic effects. The Nuclear Regulatory Commission assesses the risk of an all-nuclear power society at 32 cases per year, or 0.03% above the natural incidence of genetic disease. Public concern over nuclear accidents focuses on the potential for a catastrophic accident, but the statistical genetic effects of a worst-case accident would be undetectable. Efforts to understand and deal with the genetic hazards of delayed parenthood and chemical mutagens coupled with new developments in medical intervention depend upon a continual improvement in the standard of living and the abundant supplies of cheap energy that nuclear power can help to provide. 3 footnotes. (DCK)

  2. Mantel test in population genetics. (United States)

    Diniz-Filho, José Alexandre F; Soares, Thannya N; Lima, Jacqueline S; Dobrovolski, Ricardo; Landeiro, Victor Lemes; de Campos Telles, Mariana Pires; Rangel, Thiago F; Bini, Luis Mauricio


    The comparison of genetic divergence or genetic distances, estimated by pairwise FST and related statistics, with geographical distances by Mantel test is one of the most popular approaches to evaluate spatial processes driving population structure. There have been, however, recent criticisms and discussions on the statistical performance of the Mantel test. Simultaneously, alternative frameworks for data analyses are being proposed. Here, we review the Mantel test and its variations, including Mantel correlograms and partial correlations and regressions. For illustrative purposes, we studied spatial genetic divergence among 25 populations of Dipteryx alata ("Baru"), a tree species endemic to the Cerrado, the Brazilian savannas, based on 8 microsatellite loci. We also applied alternative methods to analyze spatial patterns in this dataset, especially a multivariate generalization of Spatial Eigenfunction Analysis based on redundancy analysis. The different approaches resulted in similar estimates of the magnitude of spatial structure in the genetic data. Furthermore, the results were expected based on previous knowledge of the ecological and evolutionary processes underlying genetic variation in this species. Our review shows that a careful application and interpretation of Mantel tests, especially Mantel correlograms, can overcome some potential statistical problems and provide a simple and useful tool for multivariate analysis of spatial patterns of genetic divergence.

  3. [Genetics of congenital heart diseases]. (United States)

    Bonnet, Damien


    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Genetic Aspects of Alzheimer Disease (United States)

    Williamson, Jennifer; Goldman, Jill; Marder, Karen S.


    Background Alzheimer disease (AD) is a genetically complex disorder. Mutations in 3 genes, presenilin 1, amyloid precursor protein, and presenilin 2, lead to early-onset familial AD in rare families with onset of disease occurring prior to age 65. Specific polymorphisms in apolipoprotein E are associated with the more common, late-onset AD occurring after age 65. In this review, we discuss current advances in AD genetics, the implications of the known AD genes, presenilin 1, presenilin 2, amyloid precursor protein, and apolipoprotein E, and other possible genes on the clinical diagnosis, treatment, and genetic counseling of patients and families with early- and late-onset AD. Review Summary In addition to the mutations in 4 known genes associated with AD, mutations in other genes may be implicated in the pathogenesis of the disease. Most recently, 2 different research groups have reported genetic association between 2 genes, sortilin-related receptor and GAB2, and AD. These associations have not changed the diagnostic and medical management of AD. Conclusions New research in the genetics of AD have implicated novel genes as having a role in the disease, but these findings have not been replicated nor have specific disease causing mutations been identified. To date, clinical genetic testing is limited to familial early-onset disease for symptomatic individuals and asymptomatic relatives and, although not recommended, amyloid precursor protein apolipoprotein E testing as an adjunct to diagnosis of symptomatic individuals. PMID:19276785

  5. Genetic coding and gene expression - new Quadruplet genetic coding model (United States)

    Shankar Singh, Rama


    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  6. Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia. (United States)

    Olwi, Duaa; Merdad, Leena; Ramadan, Eman


    Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

  7. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Extensive research work on D. ananassae has been done by numerous researchers pertaining to cytology, genetics, mutagenesis, gene mapping, crossing-over in both sexes, population and evolutionary genetics, behaviour genetics, ecological genetics, sexual isolation, fluctuating asymmetry, trade-offs etc. Genome of D.

  8. Genetics and developmental biology of cooperation

    Czech Academy of Sciences Publication Activity Database

    Kasper, C.; Vierbuchen, M.; Ernst, Ulrich R.; Fischer, S.; Radersma, R.; Raulo, A.; Cunha-Saraiva, F.; Wu, M.; Mobley, K. B.; Taborsky, B.


    Roč. 26, č. 17 (2017), s. 4364-4377 ISSN 0962-1083 Institutional support: RVO:61388963 Keywords : altruism * behaviour * indirect genetic effects * social behaviour * social effects Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 6.086, year: 2016

  9. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    The Journal of Genetics is among the oldest English language journals in genetics and has a unique history. It was founded in England by W. Bateson and R. C. Punnett in 1910, ... for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.

  10. Sex Determination, Sex Ratios, and Genetic Conflict

    NARCIS (Netherlands)

    Werren, John H.; Beukeboom, Leo W.


    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

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. Sonia. Articles written in Journal of Genetics. Volume 84 Issue 3 December 2005 pp 295-301 Research Article. Genetic diversity and bottleneck studies in the Marwari horse breed · A. K. Gupta M. Chauhan S. N. Tandon Sonia · More Details Abstract Fulltext PDF. Genetic diversity within ...

  12. Genetic variation and population structure in Oryza ...

    Indian Academy of Sciences (India)

    Genetically isolated smaller populations and a narrow genetic base in O. malampuzhaensis point to its vulnerability to genetic drift and genetic depauperation. Thus O. malampuzhaensis appears to be under the threat of extinction and needs to be conserved by use of suitable methods. The present study also identified ...

  13. Annual review of genetics. Volume 21

    Energy Technology Data Exchange (ETDEWEB)

    Campbell, A.


    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.

  14. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Volume 84, Issue 3 ... Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman · Ian Dworkin ... Coexistence of three different Drosophila species by rescheduling their life history traits in a natural population.

  15. Human genetics of diabetic vascular complications

    Indian Academy of Sciences (India)


    Aug 26, 2016 ... ... health problem. There is evidence demonstrating that genetic factors contribute to the risk of DVC genetic variants, structural variants, and epigenetic changes play important roles in the development of DVC. Genetic linkage studies have uncovered a number of genetic loci that may shape the risk of DVC.

  16. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert


    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....

  17. Genetic Counseling as an Educational Process. (United States)

    Eddy, James M.; St. Pierre, Richard

    Historically genetic counseling programs have not included strong educational components or sound educational foundations. This paper deals with some of the drawbacks of current genetic counseling programs and the implications for education in the genetic counseling process. The author adopts a broad definition of genetic counseling which…

  18. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, Iasis Hospital, 8036 Paphos, Cyprus; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, ...

  19. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of ...

  20. Genetic diversity of Sclerocarya birrea subspecies birrea ...

    African Journals Online (AJOL)



    Jan 3, 2012 ... population. Shannon's index was also estimated for the whole sample considered as a single population. To analyse genetic structure, genetic distances were constructed using the Nei's original measures of genetic identity and genetic distance (Nei, 1972). The degree of differentiation among popu-.

  1. Genetic variation and population structure in Oryza ...

    Indian Academy of Sciences (India)


    Journal of Genetics, Vol. ... understood taxon in genus Oryza and is often misidentified as O. officinalis owing to their close morphology. .... Genetic distance. The pairwise genetic distance matrix was prepared on the basis of RAPD data (table 4). The genetic distance varied. Table 2. Distances between the collection sites.

  2. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    pp 223-226 Commentary on J. Genet. Classic. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman ... pp 283-293 Research Article. Coexistence of three different Drosophila species by rescheduling their life history traits in a natural population · Jay P. Yadav ...

  3. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Information for Authors. Journal of Genetics. GENERAL. Journal of Genetics covers all areas of genetics and evolution, but a contribution must have one of these subjects as its focus and be of interest to geneticists for acceptability. Papers not explicitly genetical, but addressing evolutionary issues of interest to geneticists ...

  4. Genetic Counseling: MedlinePlus Health Topic (United States)

    ... it if you Have a personal or family history of a genetic condition or birth defect Are pregnant or planning to be pregnant ... GO MEDICAL ENCYCLOPEDIA Genetic counseling Related Health Topics Birth Defects Family History Genetic Disorders Genetic Testing Prenatal Testing National Institutes ...

  5. Genetics of Hearing and Deafness (United States)



    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 ( 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. PMID:23044516

  6. Challenges in essential tremor genetics. (United States)

    Clark, L N; Louis, E D


    The field of essential tremor (ET) genetics remains extremely challenging. The relative lack of progress in understanding the genetic etiology of ET, however, does not reflect the lack of a genetic contribution, but rather, the presence of substantial phenotypic and genotypic heterogeneity. A meticulous approach to phenotyping is important for genetic research in ET. The only tool for phenotyping is the clinical history and examination. There is currently no ET-specific serum or imaging biomarker or defining neuropathological feature (e.g., a protein aggregate specific to ET) that can be used for phenotyping, and there is considerable clinical overlap with other disorders such as Parkinson's disease (PD) and dystonia. These issues greatly complicate phenotyping; thus, in some studies, as many as 30-50% of cases labeled as "ET" have later been found to carry other diagnoses (e.g., dystonia, PD) rather than ET. A cursory approach to phenotyping (e.g., merely defining ET as an "action tremor") is likely a major issue in some family studies of ET, and this as well as lack of standardized phenotyping across studies and patient centers is likely to be a major contributor to the relative lack of success of genome wide association studies (GWAS). To dissect the genetic architecture of ET, whole genome sequencing (WGS) in carefully characterized and well-phenotyped discovery and replication datasets of large case-control and familial cohorts will likely be of value. This will allow specific hypotheses about the mode of inheritance and genetic architecture to be tested. There are a number of approaches that still remain unexplored in ET genetics, including the contribution of copy number variants (CNVs), 'uncommon' moderate effect alleles, 'rare' variant large effect alleles (including Mendelian and complex/polygenic modes of inheritance), de novo and gonadal mosaicism, epigenetic changes and non-coding variation. Using these approaches is likely to yield new ET genes

  7. Overcoming Challenges in Engineering the Genetic Code. (United States)

    Lajoie, M J; Söll, D; Church, G M


    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. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. Genetic neurological channelopathies: molecular genetics and clinical phenotypes. (United States)

    Spillane, J; Kullmann, D M; Hanna, M G


    Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  9. The New Genetics and Natural versus Artificial Genetic Modification

    Directory of Open Access Journals (Sweden)

    Mae-Wan Ho


    Full Text Available The original rationale and impetus for artificial genetic modification was the “central dogma” of molecular biology that assumed DNA carries all the instructions for making an organism, which are transmitted via RNA to protein to biological function in linear causal chains. This is contrary to the reality of the “fluid genome” that has emerged since the mid-1970s. In order to survive, the organism needs to engage in natural genetic modification in real time, an exquisitely precise molecular dance of life with RNA and DNA responding to and participating in “downstream” biological functions. Artificial genetic modification, in contrast, is crude, imprecise, and interferes with the natural process. It drives natural systems towards maximum biosemiotic entropy as the perturbations are propagated and amplified through the complex cascades of interactions between subsystems that are essential for health and longevity.

  10. Genetically Modified Agrifood Trade: Necessity Or Concerns?


    Nurliza, Nurliza


    Genetically modified agri-foods are genetically modified using biotechnology. Genetically modified organisms (GMOs) advantages are the focus of much attention in world food markets. Genetically modified crop technology is claimed also to have great potential for the world€™s farmers and ultimately consumers, following initial success with genetically modified cotton varieties. Benefits for farmers could include greater productivity and less occupational health and environmental damage (e.g., ...

  11. Molecular genetic studies on obligate anaerobic bacteria

    International Nuclear Information System (INIS)

    Woods, D.R.


    Molecular genetic studies on obligate anaerobic bacteria have lagged behind similar studies in aerobes. However, the current interest in biotechnology, the involvement of anaerobes in disease and the emergence of antibioticresistant strains have focused attention on the genetics of anaerobes. This article reviews molecular genetic studies in Bacteroides spp., Clostridium spp. and methanogens. Certain genetic systems in some anaerobes differ from those in aerobes and illustrate the genetic diversity among bacteria

  12. Genetic monitoring in contemporary swine production


    Savić Mila S.; Jovanović Slobodan J.; Trailović Ružica D.; Dimitrijević Vladimir M.


    The development of molecular techniques for genome studies has led to qualitative progress in the selection of domestic animals by enabling the use of genetic markers, in addition to phenotypic selection parameters in choosing an animal. Genetic montoring has a wide application in contemporary swine production. Namely, genetic control is in the basis of all procedures pertaining to the selection of parent couples. Genetic monitoring is thus used in the genetic characterization of breeds, line...



    WEISS S.


    This manuscript serves as a summary of both the importance of genetics in conservation, and the range of methodological approaches available. Two somewhat distinct realms of conservation genetics are outlined. The first theoretically rests upon the field of population genetics, and primarily concerns itself with the conservation of genetic diversity within and among populations, both in the wild and captivity. Basic concepts such as heterozygosity, genetic drift, and effective population size...

  14. Genetics, health care, and public policy: an introduction to public health genetics

    National Research Council Canada - National Science Library

    Stewart, Alison


    ... initiative About this book Further reading and resources Principles of public health The emergence of public health genetics The human genome project and 'genomic medicine' Community genetics Current developments in public health genetics Genomics and global health 2 Genetic science and technology Basic molecular genetics Genes and the geno...

  15. The Virtual Genetics Lab II: Improvements to a Freely Available Software Simulation of Genetics (United States)

    White, Brian T.


    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…

  16. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas (United States)

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


    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…

  17. Genetic basis of atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Oscar Campuzano


    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.

  18. [Genetic factors in myocardial infarction]. (United States)

    Hara, Masahiko; Sakata, Yasuhiko; Sato, Hiroshi


    One of the main mechanisms of acute myocardial infarction (AMI) is plaque rupture or erosion followed by intraluminal thrombus formation and occlusion of the coronary arteries. Thus far, many underlying conditions or environmental factors, such as hypertension, diabetes, dyslipidemia, smoking or obesity, as well as a family history of coronary artery diseases have been identified as risks for the onset of AMI. These risks suggest that AMI occurs due to interactions between underlying conditions and multiple genetic susceptibilities. For this reason, many target gene-disease association studies have been performed with the recent introduction of genome-wide association studies (GWAS) that have further revealed new genetic susceptibilities for AMI. GWAS is a way to examine many common genetic variants in different individuals to see if any variant is associated with a trait in a case-control fashion, and typically focuses on associations between single-nucleotide polymorphisms (SNP) and traits. SNP on chromosome 9p21 is one of the robust susceptibility variants for AMI which has been identified by many GWAS. In this review, we overview the methodology of GWAS, introduce genetic variants identified by GWAS as those with susceptibility for AMI, and describe the foresight of using GWAS to investigate genetic susceptibility to AMI.

  19. Genetics of congenital heart disease. (United States)

    Edwards, Jonathan J; Gelb, Bruce D


    The goal of this review is to highlight recent discoveries in the field of genetics as it relates to congenital heart disease (CHD). Recent advancements in next generation sequencing technology and tools to interpret this growing body of data have allowed us to refine our understanding of the molecular mechanisms that result in CHD. From multiple different study designs, the genetic lesions that cause CHD are increasingly being elucidated. Of the more novel findings, a forward genetic screen in mice has implicated recessive inheritance and the ciliome broadly in CHD pathogenesis. The developmental delays frequently observed in patients with CHD appear to result from mutations affecting genes that overlap heart and brain developmental regulation. A meta-analysis has provided clarity, discriminating pathologic from incidental copy number variations and defining a critical region or gene. Recent technological advances have rapidly expanded our understanding of CHD genetics, and support the applicability to the clinical domain in both sporadic and inherited disease. Though significant gaps remain, genetic lesions remain the primary explanation for CHD pathogenesis, although the precise mechanism is likely multifactorial.

  20. Yeasts: From genetics to biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Russo, S.; Poli, G. [Univ. of Milan (Italy); Siman-Tov, R.B. [Univ. of Jerusalem, Rehovot (Israel)


    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 {open_quotes}biotechnological revolution{close_quotes} by virtue of both their features and their very long and safe use in human nutrition and industry. 175 refs., 4 figs., 6 tabs.

  1. Conventional radiology and genetic dose

    International Nuclear Information System (INIS)

    Gonzalez-Vila, V.; Fernandez, A.; Rivera, F.; Martinez, M.; Gomez, A.; Luis, J.


    A research project was established in 1984 to evaluate the expected genetic abnormalities due to radiation received by the population attending the Outpatient Radiological Service due to medical radiological practices. The study was conducted in 1985 (12 weeks chosen by random). The equivalent gonadal dose was the chosen parameter, representing the social cost of the radiology. Samples of 2945 men and 2929 women were considered in the study. The number of genetic abnormalities, in relation to the mean age of reproduction (a generation every 30 years), was 2.13 cases per million in the first generation and 15.97 cases per million at equilibrium. The authors interpretation is that both the method and the expected genetic detriment are suitable procedures for the characterisation of the Radiological Service as a radiation source. (author)

  2. Wolf population genetics in Europe

    DEFF Research Database (Denmark)

    Hindrikson, Maris; Remm, Jaanus; Pilot, Malgorzata


    , resulting in a significant decrease in their numbers, genetic diversity and gene flow between populations. For more effective protection and management of wolf populations in Europe, robust scientific evidence is crucial. This review serves as an analytical summary of the main findings from wolf population...... genetic studies in Europe, covering major studies from the ‘pre-genomic era’ and the first insights of the ‘genomics era’. We analyse, summarize and discuss findings derived from analyses of three compartments of the mammalian genome with different inheritance modes: maternal (mitochondrial DNA), paternal...... (Y chromosome) and biparental [autosomal microsatellites and single nucleotide polymorphisms (SNPs)]. To describe large-scale trends and patterns of genetic variation in European wolf populations, we conducted a meta-analysis based on the results of previous microsatellite studies and also included...


    Directory of Open Access Journals (Sweden)

    Oana-Elena Sauca


    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.

  4. The genetics of skin fragility. (United States)

    Has, Cristina; Bruckner-Tuderman, Leena


    Genetic skin fragility manifests with diminished resistance of the skin and mucous membranes to external mechanical forces and with skin blistering, erosions, and painful wounds as clinical features. Skin fragility disorders, collectively called epidermolysis bullosa, are caused by mutations in 18 distinct genes that encode proteins involved in epidermal integrity and dermal-epidermal adhesion. The genetic spectrum, along with environmental and genetic modifiers, creates a large number of clinical phenotypes, spanning from minor localized lesions to severe generalized blistering, secondary skin cancer, or early demise resulting from extensive loss of the epidermis. Laboratory investigations of skin fragility have greatly augmented our understanding of genotype-phenotype correlations in epidermolysis bullosa and have also advanced skin biology in general. Current translational research concentrates on the development of biologically valid treatments with therapeutic genes, cells, proteins, or small-molecule compounds in preclinical settings or human pilot trials.

  5. Plastid genetic engineering in Solanaceae. (United States)

    Venkatesh, Jelli; Park, Se Won


    Plastid genetic engineering has come of age, becoming today an attractive alternative approach for the expression of foreign genes, as it offers several advantages over nuclear transformants. Significant progress has been made in plastid genetic engineering in tobacco and other Solanaceae plants, through the use of improved regeneration procedures and transformation vectors with efficient promoters and untranslated regions. Many genes encoding for industrially important proteins and vaccines, as well as genes conferring important agronomic traits, have been stably integrated and expressed in the plastid genome. Despite these advances, it remains a challenge to achieve marked levels of plastid transgene expression in non-green tissues. In this review, we summarize the basic requirements of plastid genetic engineering and discuss the current status, limitations, and the potential of plastid transformation for expanding future studies relating to Solanaceae plants.

  6. Genetics of Type 2 diabetes

    DEFF Research Database (Denmark)

    Andersen, Mette Korre; Pedersen, Casper-Emil Tingskov; Moltke, Ida


    Type 2 diabetes (T2D) affects millions of people worldwide. Improving the understanding of the underlying mechanisms and ultimately improving the treatment strategies are, thus, of great interest. To achieve this, identification of genetic variation predisposing to T2D is important. A large number...... disease-associated variants due to genetic drift. Collectively, this increases the statistical power to detect association signals in isolated populations compared to large outbred populations. In this review, we elaborate on why isolated populations are a powerful resource for the identification...... of complex disease variants and describe their contributions to the understanding of the genetics of T2D. © 2016, Springer Science+Business Media New York....

  7. Genetic Engineering Workshop Report, 2010

    Energy Technology Data Exchange (ETDEWEB)

    Allen, J; Slezak, T


    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

  8. Alport syndrome. Molecular genetic aspects

    DEFF Research Database (Denmark)

    Hertz, Jens Michael


    a highly efficient and sensitive molecular diagnostic approach for analysing the COL4A5 gene in putative AS cases. Based on the present results and the litterature, an algorithm for molecular genetic analysis of the COL4A5 gene is suggested. The overall mutation detection rate was found to be 53......Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied by progressive high-tone sensorineural hearing loss and ocular changes in form of macular flecks and lenticonus. AS is a genetic heterogenous disease, and X...... practice for carrier detection and prenatal diagnosis, in order to be able to offer a better genetic counselling to the families. Knowledge of a possible correlation between genotype and phenotype can be of help in predicting the prognosis. Samples from 135 probands suspected of AS and 359...

  9. Technological Innovations in Forensic Genetics

    DEFF Research Database (Denmark)

    Wienroth, Matthias; Morling, Niels; Williams, Robin


    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...... the participation of scientific actors in the development of anticipatory governance deliberations concerning the widening application of forensic genetics in an increasing number of criminal and civil jurisdictions....

  10. Genetic predisposition to bronchopulmonary dysplasia. (United States)

    Lal, Charitharth Vivek; Ambalavanan, Namasivayam


    The objective of this study is to review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and to discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Genetic factors contribute much of the variance in risk for BPD. Studies to date evaluating single or a few candidate genes have not been successful in yielding results that are replicated in GWAS, perhaps due to more stringent p-value thresholds. GWAS studies have identified only a single gene (SPOCK2) at genome-wide significance in a European White and African cohort, which was not replicated in two North American studies. Pathway gene-set analysis in a North American cohort confirmed involvement of known pathways of lung development and repair (e.g., CD44 and phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g., adenosine deaminase and targets of miR-219) involved in genetic predisposition to BPD. The genetic basis of severe BPD is different from that of mild/moderate BPD, and the variants/pathways associated with BPD vary by race/ethnicity. A pilot study of whole exome sequencing identified hundreds of genes of interest, and indicated the overall feasibility as well as complexity of this approach. Better phenotyping of BPD by severity and pathophysiology, and careful analysis of race/ethnicity is required to gain a better understanding of the genetic basis of BPD. Future translational studies are required for the identification of potential genetic predispositions (rare variants and dysregulated pathways) by next-generation sequencing methods in individual infants (personalized genomics). Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Metabolomics of Genetically Modified Crops

    Directory of Open Access Journals (Sweden)

    Carolina Simó


    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.

  12. Metabolomics of genetically modified crops. (United States)

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


    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.

  13. Marburg Virus Reverse Genetics Systems

    Directory of Open Access Journals (Sweden)

    Kristina Maria Schmidt


    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.

  14. Agricultural genetics goes to court. (United States)

    Fox, Jeffrey L; Norman, Colin


    A coalition of environmental groups headed by activist Jeremy Rifkin has filed lawsuits to halt experiments that would release genetically engineered organisms into the environment. One suit, filed against the National Institutes of Health on 14 September 1983, would block tests by researchers at the University of California, Berkeley. A second suit, filed 16 September 1983 against Cetus Madison and BioTechnica, seeks to halt field tests that had been approved by NIH's Recombinant DNA Advisory Committee. At issue are NIH's role in evaluating the risks of genetic experimentation, and the public's right of access to proprietary information.

  15. Metabolomics of Genetically Modified Crops (United States)

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


    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

  16. Scientific discovery using genetic programming

    DEFF Research Database (Denmark)

    Keijzer, Maarten


    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....

  17. Proinflammatory Status, Genetics and Atherosclerosis

    Czech Academy of Sciences Publication Activity Database

    Poledne, R.; Lorenzová, A.; Stávek, P.; Valenta, Zdeněk; Hubáček, J.; Suchánek, R.; Piťha, J.


    Roč. 58, Suppl. 2 (2009), S111-S118 ISSN 0862-8408 R&D Projects: GA MŠk(CZ) 1M06014 Grant - others:GA MŠk(CZ) 1M0510 Program:1M Institutional research plan: CEZ:AV0Z10300504 Keywords : atherosclerosis * inflammation * C-reactive protein * genetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.430, year: 2009

  18. Basic concepts of medical genetics: Formal genetics, Part 2

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem


    Jan 21, 2014 ... ited disease like the Marfan syndrome can have either severe or mild phenotype and can have either a partial or full range of expression with affection of the skeletal, ocular and cardiovascular systems. 8.2.2. Autosomal recessive inheritance. An autosomal recessive (AR) genetic disease entails the pres-.

  19. An analysis of the genetic diversity and genetic structure of ...

    African Journals Online (AJOL)

    ajl yemi


    Dec 26, 2011 ... levels of genetic diversity (Hamrick and Godt, 1996). In addition, E. ulmoides is distributed in a wide range of climatic and geographic conditions in China during the cultivation history of more than 2,000 years (Zhang,. 1992) and rich vitality and high adaptability accumulated through the long-term history.

  20. Genetic identity of Thamnophis sp. using microsatellite genetic markers (United States)

    Sloss, Brian L.


    Butler’s gartersnake (Thamnophis butleri) was previously listed by the Wisconsin Department of Natural Resources as a state threatened species. Several key questions associated with species identity, integrity, and hybridization with other gartersnake species needed to be addressed to further refi ne the management plan for this species. The objectives of this research were: 1) to determine if genetic markers developed in the initial phase of research could identify discrete genetic groups of Wisconsin gartersnakes, 2) to determine if any or all genetic groups delineated in objective one were consistent with Butler’s gartersnake, plains gartersnake (T. radix), and/or common gartersnake (T. sirtalis), and 3) to determine if any of the genetic data were consistent with hybridization occurring between gartersnakes in Wisconsin. Snakes were sampled from various Midwestern locations with a focus on sites in Wisconsin. All snakes were photo-vouchered, morphological landmarks were taken, and a tail snip was collected for genetic analysis. Genetic data from previously developed microsatellite markers discriminated three genetic groups from a composite 13-locus dataset (N=815) using the Bayesian admixture analysis in STRUCTURE v2.3.3. These units were highly consistent with species-groups based on the membership of a small number of known snakes from areas where the species are not thought to co-occur. Using a threshold q-value (proportional genotype) of ≥80%, 498 Butler’s gartersnakes, 93 plains gartersnakes, and 107 common gartersnakes were identifi ed in Wisconsin samples; putative hybrid snakes of Butler’s gartersnake x plain gartersnake (34), Butler’s gartersnake x common gartersnake (8), and a single ambiguous snake were also identifi ed in Wisconsin samples. Levels of divergence among the species groups from Wisconsin were lower than between species groups from other states consistent with either larger than expected Wisconsin population sizes or signifi

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

  2. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    NARCIS (Netherlands)

    Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y.; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J.; Barton, David E.

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report

  3. Strategies for MCMC computation in quantitative genetics

    DEFF Research Database (Denmark)

    Waagepetersen, Rasmus; Ibánez, N.; Sorensen, Daniel


    Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional but with a sp......Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional...

  4. Genetics Home Reference: Down syndrome (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  5. Genetics Home Reference: trisomy 18 (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  6. Genetics Home Reference: Klinefelter syndrome (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result ... of these atypical reproductive cells contributes to the genetic makeup of a ...

  7. Genetics Home Reference: trisomy 13 (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  8. Evolutionary genetics: the Drosophila model

    Indian Academy of Sciences (India)


    In Evolutionary genetics: from molecules to morphology (ed. R. S. Singh and C. B. Krimbas), pp. 609–627. Cambridge Uni- versity Press, Cambridge. Houle D. 2001 Characters as the units of evolutionary change. In The character concept in evolutionary biology. (ed. G. P. Wagner), pp. 109–140. Academic Press, San Diego.

  9. Genetic Technology and Food Security

    NARCIS (Netherlands)

    Grossman, M.R.


    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. Fisher population and landscape genetics (United States)

    Michael Schwartz; Joel Saunder; Kristine L. Pilgrim; Ray Vinkey; Michael K. Lucid; Sean Parks; Nathan Albrecht


    This talk provides a population and landscape genetic overview of fishers in Idaho and Montana. We start by discussing some of our initial findings using mitochondrial DNA (Vinkey et al. 2006, Schwartz 2007, Knaus et al. 2011). On balance these results demonstrate the uniqueness of a native haplotype that persisted in the Bitterroot-Selway Ecosystem. They also show the...

  11. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    e130.pdf. Coutinho J. P., Carvalho A. and Lima-Brito J. 2014 Fingerprinting of Fagaceae individuals using intermicrosatellite markers. J. Genet. 93, e132–e140. Online only:]. Ma C., Jiang W., ...

  12. Radiation genetics. Status and prospects

    International Nuclear Information System (INIS)

    Svyatova, G.S.; Abil'dinova, G.Zh.; Berezina, G.M.


    In Republic of Kazakhstan on the base of Republican Scientific and Research Center for Mother and Child Health Protection the comprehensive medical-genetical testing of rural population living in immediate proximity from Semipalatinsk test site is carried out. Besides of general medical-genetic characteristics of examined population the frequency and structure of congenital diseases of newborns from 1970 to 1995 were determined. 67.5 thousand parturitions outcomes in researched area and 21.5 thousand ones in control district (Akmola region) are studied. Both the frequency and the structure of chromosomal aberration of population living on contaminated by radionuclides territories is researched as well. Perspective trends in field of clinical radiation genetics are outlined, there are as follows: - application of early diagnostics and prophylaxis of radiation-induced pathology of both the stochastic and nonstochastic characters; - conducting of biologic dosimetry; - wide application of peri-conception prophylaxis of genetic disorders; - application of anti-mutagens and special food-stuffs making for both the reducing of the absorption and the accumulation of radionuclides in organism; - introduction of long-term programs of correction of developing pathologies caused by multifactorial influence of environment

  13. Monitoring changes in genetic diversity

    CSIR Research Space (South Africa)

    Bruford, MW


    Full Text Available state-of-the-art in genetic monitoring, with an emphasis on new molecular tools and the richness of data they provide to supplement existing approaches. We also briefly consider proxy approaches that may be useful for many-species, global scale...

  14. Genetics of type 2 diabetes. (United States)

    Ahlqvist, Emma; Ahluwalia, Tarunveer Singh; Groop, Leif


    Type 2 diabetes (T2D) is a complex disorder that is affected by multiple genetic and environmental factors. Extensive efforts have been made to identify the disease-affecting genes to better understand the disease pathogenesis, find new targets for clinical therapy, and allow prediction of disease. Our knowledge about the genes involved in disease pathogenesis has increased substantially in recent years, thanks to genomewide association studies and international collaborations joining efforts to collect the huge numbers of individuals needed to study complex diseases on a population level. We have summarized what we have learned so far about the genes that affect T2D risk and their functions. Although more than 40 loci associated with T2D or glycemic traits have been reported and reproduced, only a minor part of the genetic component of the disease has been explained, and the causative variants and affected genes are unknown for many of the loci. Great advances have recently occurred in our understanding of the genetics of T2D, but much remains to be learned about the disease etiology. The genetics of T2D has so far been driven by technology, and we now hope that next-generation sequencing will provide important information on rare variants with stronger effects. Even when variants are known, however, great effort will be required to discover how they affect disease risk.

  15. Genetic determinants of eating disorders

    NARCIS (Netherlands)

    Slof-Op 't Landt, Margarita Cornelia Theodora


    In this thesis, a series of studies on different aspects of the genetics of eating disorders is presented. The heritability of disordered eating behavior and attitudes in relation with body mass index (BMI) was evaluated in a large adolescent twin-family sample ascertained through the Netherlands

  16. Genetics Home Reference: Hartsfield syndrome (United States)

    ... Epub 2016 May 12. Citation on PubMed Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am J Med Genet A. 2016 Sep ...

  17. Genetic analysis of rare disorders

    DEFF Research Database (Denmark)

    van den Berg, Stéphanie M; von Bornemann Hjelmborg, Jacob


    Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due...

  18. Genetics Home Reference: CLPB deficiency (United States)

    ... Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303-11. ...

  19. Expanding the eukaryotic genetic code

    Energy Technology Data Exchange (ETDEWEB)

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


    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.

  20. Biological imprinting: Some genetic considerations

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem


    Jun 21, 2014 ... tilization [1]. Some sex differences in expression of inherited traits may result from genetic imprinting. ... same-sense alteration (change of a base of a codon to another base forming a new codon that defines the same amino ...... embryonic stem cells. Hum Reprod Update 2010;16(5):488–509. [30] Yazdi PG ...