Relevant bibliographies by topics / Human genetics

Academic literature on the topic 'Human genetics'

Author: Grafiati
Published: 4 June 2021
Last updated: 29 July 2024

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Journal articles on the topic "Human genetics"

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Comai, L. "Human genetics: Human genetics discovering ourselves." Heredity 99, no. 5 (September 19, 2007): 481–82. http://dx.doi.org/10.1038/sj.hdy.6801060.

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Vázquez, José. "Human Genetics." American Biology Teacher 68, no. 2 (February 1, 2006): 118–19. http://dx.doi.org/10.2307/4451943.

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Haas, John M. "Human Genetics." Ethics & Medics 21, no. 2 (1996): 1–3. http://dx.doi.org/10.5840/em19962123.

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Connors, Bernadette J. "Human Genetics." American Biology Teacher 77, no. 5 (May 1, 2015): 393–94. http://dx.doi.org/10.1525/abt.2015.77.5.12c.

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Atramentova, L. A. "Bayesian statistics in human genetics." Faktori eksperimental'noi evolucii organizmiv 26 (September 1, 2020): 316–19. http://dx.doi.org/10.7124/feeo.v26.1286.

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Using of the Bayes’ method in genetic counseling allows clarifying of the probability of a disease in the offspring, which in some cases can save probands from additional laboratory diagnostic tests due to the extremely low risk which can be calculated. The article is devoted to the usage of the Bayes’ method in human genetics. The concepts of a priori, conditional, total and posterior probabilities are introduced. As an example, a pedigree with a monogenic recessive X-linked trait is considered. An algorithm for calculating of the probability that a patient is a carrier of a pathological gene is presented. The prediction of results made with help of using the classical method of calculations and the Bayesian method are compared. An example for calculation of the gene mutation rate based on epidemiological and genetic data is given. The discussed topic can be taken into account for presenting of courses in human genetics and medical genetics at classical and medical universities, and the given problem can serve as an example for drawing up of tasks for students with pedigrees of various configurations and other attributes. Keywords: Bayesian method, a priori probability, posterior probability, teaching of genetics, genetic counseling.
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Motulsky, Arno G. "Societal problems in human and medical genetics." Genome 31, no. 2 (January 15, 1989): 870–75. http://dx.doi.org/10.1139/g89-153.

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The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human health and disease is producing difficult dilemmas. New problems are likely to surface, but human ingenuity and rationality is likely to find just and compassionate solutions in most settings.Key words: genetics and society; genetic diseases; counseling, genetic screening.
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Passarge, Eberhard. "Origins of human genetics. A personal perspective." European Journal of Human Genetics 29, no. 7 (February 4, 2021): 1038–44. http://dx.doi.org/10.1038/s41431-020-00785-7.

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AbstractGenetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.
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King, M. C. "HUMAN GENETICS: Mapping Human History." Science 298, no. 5602 (December 20, 2002): 2342–43. http://dx.doi.org/10.1126/science.1080373.

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Lupski, James R. "A Human in Human Genetics." Cell 177, no. 1 (March 2019): 9–15. http://dx.doi.org/10.1016/j.cell.2019.02.034.

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Lorey, Fred. "Human Genetics Data Applied to Genetic Screening Programs." Practicing Anthropology 20, no. 2 (April 1, 1998): 30–33. http://dx.doi.org/10.17730/praa.20.2.n84728r821185380.

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The uses of human genetic data in genetic screening are multifaceted and dynamic, creating an ongoing stream of useful prevalence data, ethnicity data, and natural history information. Since the primary facility for generation of these data is a large public health genetic screening program, however, the results must be continually analyzed and evaluated in the context of testing parameters. For example, presumptive positive rates (initial screening test positives, only a portion of which will become diagnosed cases), false positive rates, detection rates, and analytical values must be constantly checked to ensure the screening program is running smoothly and effectively. Any departures from the expected must be investigated so that the cause(s) can be determined and corrected. On a longitudinal basis, outcomes must be evaluated to ensure that the intended purpose of preventing mortality and reducing morbidity through intervention is achieved.
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Dissertations / Theses on the topic "Human genetics"

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Ingman, Max. "Mitochondria and Human Evolution." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3580.

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Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. In addition, a comparatively high rate of nucleotide substitution facilitates phylogenetic resolution among relatively closely related individuals of the same species.

In this thesis, a statistically supported phylogeny based on complete mitochondrial genome sequences is presented which, for the first time, unambiguously places the root of modern human mitochondrial lineages in Africa in the last 200 thousand years. This conclusion provides strong support for the “recent African origin” hypothesis. Also, the complete genome data underline the problematic nature of traditional approaches to analyses of mitochondrial phylogenies.

The dispersal of anatomically modern humans from the African continent is examined through single nucleotide polymorphism (SNP) and sequence data. These data imply an expansion from Africa about 57 thousand years ago and a subsequent population dispersal into Asia. The dispersal coincides with a major population division that may be the result of multiple migratory routes to East Asia.

Also investigated is the question of a common origin for the indigenous peoples of Australia and New Guinea. Previous studies have been equivocal on this question with some presenting evidence for a common genetic origin and other proposing separate histories. Our data reveals an ancient genetic link between Australian Aborigines and the peoples of the New Guinea highlands.

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Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.
Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
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Dubé, Marie-Pierre. "New approaches in human genetic analysis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36581.

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The present thesis covers two aspects of statistical analysis applied to the genetics of human diseases. First, the significance of LOD-score results for the confirmation of linkage is addressed, with special emphasis on small pedigrees. A new analytical approach is presented for the linkage analysis of heterogenetic traits, using hereditary spastic paraplegia as a model, a disease well suited for the analyses. The critical significance values for confirmation of linkage are evaluated using Bayesian statistics, and empirical P-values for LOD score results are calculated using computer simulation methods. The presented analytical approach resulted in conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity.
The second part addresses linkage-disequilibrium based fine mapping in the French Canadian population. The performance of five linkage-disequilibrium based fine-mapping methods is evaluated using French Canadian chromosomes with one of three diseases found in this population: oculopharyngeal muscular dystrophy (OPMD), hidrotic ectodermal dysplasia (HED), and sensorimotor polyneuropathy with or without agenesis of the corpus callosum (ACCPN). The gene for OPMD was recently mapped and cloned, allowing us to evaluate the performance of the methods with the OPMD results, and to make predictions about the ACCPN and HED putative gene positions. In addition, a new approach to linkage-disequilibrium based fine mapping is presented using FrenchCanadian ascending genealogies. The method involves two steps. First, the likely founding couple of a mutation-bearing chromosome is identified using a computerised randomisation statistic. Then, using a delete-d jackknife resampling scheme, the distribution of gene mapping estimates is calculated from the count of ancestral recombinants and ancestral meioses joining the identified founding couple to the disease gene carriers. Gene mapping estimates are calculated from each marker individually, and confidence intervals of the estimates are derived from the jackknife distributions. The method, when applied to French Canadian families with OPMD, successfully confirmed the localisation of PABP2 responsible for OPMD and performed better than other linkage disequilibrium-based mapping models.
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De, Bustos Cecilia. "Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6629.

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Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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Bell, Christopher Graeme. "The genetics of human obesity." Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433662.

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Jennings, Michael William. "Developmental genetics of human haemoglobin." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236131.

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Bell, Jordana Tzenova. "Epistasis in complex human traits." Thesis, University of Oxford, 2006. http://ora.ox.ac.uk/objects/uuid:547db446-c84c-4a6c-8b5c-ce960f7765c5.

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Nelki, Daniel S. "The ownership of human genes and human tissue." Thesis, City University London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301178.

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Books on the topic "Human genetics"

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Lewis, Ricki. Human genetics: Concepts and applications. 7th ed. Dubuque, IA: McGraw-Hill, 2007.

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Noël, Merino, ed. Human genetics. Detroit: Greenhaven Press, 2010.

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Jenkins, John B. Human genetics. 2nd ed. New York: Harper & Row, 1990.

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Vogel, Friedrich, and Arno G. Motulsky. Human Genetics. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8.

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Vogel, Friedrich, and Karl Sperling, eds. Human Genetics. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5.

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Vogel, Friedrich, and Arno G. Motulsky. Human Genetics. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2.

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Jenkins, John B. Human genetics. 2nd ed. New York: Harper & Row, 1990.

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Merino, Noël. Human genetics. Detroit: Greenhaven Press, 2010.

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Merino, Noël. Human genetics. Detroit, MI: Greenhaven Press, 2010.

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Honig, George R. Human hemoglobin genetics. Berlin: Springer-Verlag, 1985.

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Book chapters on the topic "Human genetics"

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Vogel, Friedrich, and Arno G. Motulsky. "Population Genetics: Consanguinity, Genetic Drift." In Human Genetics, 549–82. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2_14.

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Kowles, Richard. "Human Genetics." In Solving Problems in Genetics, 389–445. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0205-6_11.

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Lancaster, H. O. "Human Genetics." In Quantitative Methods in Biological and Medical Sciences, 45–57. New York, NY: Springer New York, 1994. http://dx.doi.org/10.1007/978-1-4612-2658-1_5.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Chromosomes." In Human Genetics, 20–110. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_3.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Evolution." In Human Genetics, 512–42. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_8.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Evolution." In Human Genetics, 583–621. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2_15.

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Vogel, Friedrich, and Arno G. Motulsky. "Population Genetics." In Human Genetics, 433–511. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_7.

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Craig, A., F. Michiels, G. Zehetner, B. Sproat, M. Burmeister, M. Bućan, A. Poustka, T. Pohl, A. M. Frischauf, and H. Lehrach. "Molecular Techniques in Mammalian Genetics: A New Era in Genetic Analysis." In Human Genetics, 126–32. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_11.

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Eastwood, Martin. "Genetics." In Principles of Human Nutrition, 37–66. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4899-3025-5_2.

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Dye, Frank J. "Genetics." In Human Life Before Birth, 33–47. Second edition. | Boca Raton : Taylor & Francis, 2019.: CRC Press, 2019. http://dx.doi.org/10.1201/9781351130288-5.

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Conference papers on the topic "Human genetics"

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YAMAGUCHI, TETSUTARO, RYOSUKE KIMURA, AKIRA KAWAGUCHI, YOKO TOMOYASU, and KOUTARO MAKI. "Craniofacial Morphology in Human Genetics." In Proceedings of the 2nd International Symposium. WORLD SCIENTIFIC, 2013. http://dx.doi.org/10.1142/9789814518413_0005.

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Guan, Hannah. "The genetics of human aging." In BCB '21: 12th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. New York, NY, USA: ACM, 2021. http://dx.doi.org/10.1145/3459930.3469508.

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Dronamraju, Krishna R. "The History & Development of Human Genetics." In Progress in Different Countries. WORLD SCIENTIFIC, 1992. http://dx.doi.org/10.1142/9789814537919.

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Cleaver, James E. "Genetics of human sensitivity to ultraviolet radiation." In Ultraviolet Radiation Hazards. SPIE, 1994. http://dx.doi.org/10.1117/12.180813.

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Mitrofanova, Antonina, and Bud Mishra. "Population genetics of human copy number variations." In the 2008 ACM symposium. New York, New York, USA: ACM Press, 2008. http://dx.doi.org/10.1145/1363686.1363990.

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Moore, Jason H., Nate Barney, and Bill C. White. "Towards human-human-computer interaction for biologically-inspired problem-solving in human genetics." In the 9th annual conference. New York, New York, USA: ACM Press, 2007. http://dx.doi.org/10.1145/1276958.1277052.

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Gillespie, Marc. "Capturing, Curating, and Sharing Viral Disease in Reactome." In Genomics and Human Genetics: The New York Symposium. Reactome, 2024. http://dx.doi.org/10.3180/poster/20240126gillespie.

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"Redesign of starch biosynthetic pathway in rice by CRISPR/Cas9-mediated genome editing toward human diets." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-074.

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"The study of the cross-interaction of antibodies with antigens of different types of human papillomaviruses (HPV)." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-193.

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Špernjak, Andreja, and Andrej Šorgo. "PRE-SERVICE AND IN-SERVICE TEACHERS´ VIEWS OF HUMAN GENETICS AND HUMAN BRAIN." In 13th International Technology, Education and Development Conference. IATED, 2019. http://dx.doi.org/10.21125/inted.2019.2209.

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Reports on the topic "Human genetics"

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Loyd, Peter. An Evaluation of Genetics 308X/508X Biotechnology in Agriculture, Food, and Human Health. Ames (Iowa): Iowa State University, January 1997. http://dx.doi.org/10.31274/cc-20240624-170.

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Collins, D. L., L. Segebrecht, and R. N. Schimke. Human genetics education for middle and secondary science teachers. Third annual report, April 1, 1994--March 30, 1995. Office of Scientific and Technical Information (OSTI), December 1994. http://dx.doi.org/10.2172/34255.

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Cahaner, Avigdor, Susan J. Lamont, E. Dan Heller, and Jossi Hillel. Molecular Genetic Dissection of Complex Immunocompetence Traits in Broilers. United States Department of Agriculture, August 2003. http://dx.doi.org/10.32747/2003.7586461.bard.

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Objectives: (1) Evaluate Immunocompetence-OTL-containing Chromosomal Regions (ICRs), marked by microsatellites or candidate genes, for magnitude of direct effect and for contribution to relationships among multiple immunocompetence, disease-resistance, and growth traits, in order to estimate epistatic and pleiotropic effects and to predict the potential breeding applications of such markers. (2) Evaluate the interaction of the ICRs with genetic backgrounds from multiple sources and of multiple levels of genetic variation, in order to predict the general applicability of molecular genetic markers across widely varied populations. Background: Diseases cause substantial economic losses to animal producers. Emerging pathogens, vaccine failures and intense management systems increase the impact of diseases on animal production. Moreover, zoonotic pathogens are a threat to human food safety when microbiological contamination of animal products occurs. Consumers are increasingly concerned about drug residues and antibiotic- resistant pathogens derived from animal products. The project used contemporary scientific technologies to investigate the genetics of chicken resistance to infectious disease. Genetic enhancement of the innate resistance of chicken populations provides a sustainable and ecologically sound approach to reduce microbial loads in agricultural populations. In turn, animals will be produced more efficiently with less need for drug treatment and will pose less of a potential food-safety hazard. Major achievements, conclusions and implications:. The PI and co-PIs had developed a refined research plan, aiming at the original but more focused objectives, that could be well-accomplished with the reduced awarded support. The successful conduct of that research over the past four years has yielded substantial new information about the genes and genetic markers that are associated with response to two important poultry pathogens, Salmonella enteritidis (SE) and Escherichia coli (EC), about variation of immunocompetence genes in poultry, about relationships of traits of immune response and production, and about interaction of genes with environment and with other genes and genetic background. The current BARD work has generated a base of knowledge and expertise regarding the genetic variation underlying the traits of immunocompetence and disease resistance. In addition, unique genetic resource populations of chickens have been established in the course of the current project, and they are essential for continued projects. The US laboratory has made considerable progress in studies of the genetics of resistance to SE. Microsatellite-marked chromosomal regions and several specific genes were linked to SE vaccine response or bacterial burden and the important phenomenon of gene interaction was identified in this system. In total, these studies demonstrate the role of genetics in SE response, the utility of the existing resource population, and the expertise of the research group in conducting such experiments. The Israeli laboratories had showed that the lines developed by selection for high or low level of antibody (Ab) response to EC differ similarly in Ab response to several other viral and bacterial pathogens, indicating the existence of a genetic control of general capacity of Ab response in young broilers. It was also found that the 10w-Ab line has developed, possibly via compensatory "natural" selection, higher cellular immune response. At the DNA levels, markers supposedly linked to immune response were identified, as well as SNP in the MHC, a candidate gene responsible for genetic differences in immunocompetence of chickens.
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Seger, Yvette R. Genetic Requirements for the Transformation of Human Cells. Fort Belvoir, VA: Defense Technical Information Center, July 2002. http://dx.doi.org/10.21236/ada410207.

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Seger, Yvette. Genetic Requirements for the Transformation of Human Cells. Fort Belvoir, VA: Defense Technical Information Center, July 2004. http://dx.doi.org/10.21236/ada429117.

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Seger, Yvette M. Genetic Requirements for the Transformation of Human Cells. Fort Belvoir, VA: Defense Technical Information Center, July 2003. http://dx.doi.org/10.21236/ada418793.

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Karlan, Beth Y. Genetic Definition and Phenotypic Determinants of Human Ovarian Carcinomas. Fort Belvoir, VA: Defense Technical Information Center, October 2000. http://dx.doi.org/10.21236/ada394004.

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Hait, William. Genetic Susceptibility to Cancer Chemotherapy in Human Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, July 2000. http://dx.doi.org/10.21236/ada396563.

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Hait, William N. Genetic Susceptibility to Cancer Chemotherapy in Human Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, July 2001. http://dx.doi.org/10.21236/ada398401.

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DR. Howard B. Lieberman. Human Genetic Marker for Resistance to Radiation and Chemicals. Office of Scientific and Technical Information (OSTI), May 2001. http://dx.doi.org/10.2172/789807.

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