41. Human Genetics human genetics. Table of Contents. many large introns. Diagnosis of Human Genetic Diseases Back to Top. Restriction enzymes, such http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookhumgen.html

HUMAN GENETICS Table of Contents The human karyotype Human chromosomal abnormalities Human allelic disorders (recessive) Human allelic disorders (dominant) ... Back to Top There are 44 autosomes and 2 sex chromosomes in the human genome , for a total of 46. Karyotypes are pictures of homologous chromosomes lined up together during Metaphase I of meiosis. The chromosome micrographs are then arranged by size and pasted onto a sheet. Click here for a larger picture This picture is from The Primate Cytogenetics Network at ( http://www.selu.com/~bio/cyto/karyotypes/Hominidae/Hominidae.html Back to Top A common abnormality is caused by nondisjunction , the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo. In humans, nondisjunction is most often associated with the 21st chromosome, producing a disease known as Down's syndrome (also referred to as trisomy 21). Sufferers of Down's syndrome suffer mild to severe mental retardation, short stocky body type, large tongue leading to speech difficulties, and (in those who survive into middle-age), a propensity to develop Alzheimer's Disease. Ninety-five percent of Down's cases result from nondisjunction of chromosome 21. Occasional cases result from a translocation in the chromosomes of one parent. Remember that a translocation occurs when one chromosome (or a fragment) is transferred to a non-homologous chromosome. The incidence of Down's Syndrome increases with age of the mother, although 25% of the cases result from an extra chromosome from the father. Click

42. Welcome To Human Genetics Alert What is human genetics Alert? human genetics Alert (HGA) is an independent watchdog group based in London, UK, and is funded by a leading British charity. http://www.hgalert.org/

What's new? About us Join/Contact us Briefings ... NEW: Sex Selection Update What is Human Genetics Alert? W e are currently undergoing a technological revolution in genetics. It is widely expected that these changes will bring major health benefits. However, the human genetics revolution also raises profound social and ethical problems, including a possible resurgence of eugenics. There is a widespread concern that genetics is running far ahead of society's ability to cope with these issues. Human Genetics Alert (HGA) is an independent watchdog group based in London, UK, and is funded by a leading British charity. We are not opposed to genetic research. However, we are opposed to some developments, such as genetic discrimination, cloning and inheritable ('germ line') genetic engineering of human beings. We believe: Genetic research should be driven by genuine need rather than commercial imperatives or social and cultural prejudices Genetic technologies must be applied in away which does not exacerbate existing social inequalities, or create new ones Social problems should not be subjected to "genetic fixes" People must not be seen simply as determined by their genes The public must be able to democratically control human genetics Topics Human genetic engineering Cloning Genetic Selection Patents on life ... What's new?

43. SpringerLink - Publication www.springerlink.com/link.asp?id=100421 human genetics, funded by the National Human Genome Research Institute, National Institutes of Health, supports http://www.springerlink.com/openurl.asp?genre=journal&issn=0340-6717

44. Revolution In Progress: Human Genetics And Medical Research Produced in collaboration with the National Cancer Institute, National Institute of General Medical Sciences, National Human Genome Research Institute http://history.nih.gov/exhibits/genetics/

Additional Formats: Full-text, No Page Breaks Produced in collaboration with the National Cancer Institute National Institute of General Medical Sciences National Human Genome Research Institute National Institute of Allergy and Infectious Diseases , and the National Heart, Lung, and Blood Institute June 2003 Home Exhibits National Institutes of Health

45. ESHG Home Page European Society of human genetics. The European Society of human genetics website has moved to http//www.eshg.org. The European http://www.infobiogen.fr/agora/eshg/

European Society of Human Genetics The European Society of Human Genetics website has moved to: http://www.eshg.org The European Society of Human Genetics wishes to thank Bruno Urbero for having maintained and overseen the site and to Infobiogen for having housed the site. Creation : 96-02-08 / Updated : 12th September1999

46. Annals Of Human Genetics The Annals of human genetics Homepage. Assistant Editor Dr Elspeth Bruford. Genetic Linkage in graded Human Characters. Penrose, LS Ann.Eugen. http://www.gene.ucl.ac.uk/anhumgen/

The Annals of Human Genetics Homepage Assistant Editor: Dr Elspeth Bruford Email: anhumgen@galton.ucl.ac.uk The Galton Laboratory, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK. You can view the full text at the new Blackwell Publishing website , if you or your institution have a subscription to the journal. Previous issues (1997-2002) can be viewed from the Cambridge University Press homepage. This page serves to provide additional background information to papers published in the journal. Guide to Authors Supporting documents to published papers. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. P.A. Underhill et al. Ann. Hum. Genet. (2001), 65, 43-62. APPENDIX I . Description of 218 NRY markers. Mutation analysis of a putative sialyltransferase gene, the splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA). G.Kuhlenbaumer et al. Ann.Hum. Genet. (1998), 62, 397-400. Oligonucleotide primers used in this study.

47. Centre For Human Genetics Home, This is a centre without walls, to provide a means of communication between all those involved in Research into or Teaching of human genetics at UCL. http://www.gene.ucl.ac.uk/chg/

Coordinator : Prof Sue Povey Administrator : Karen Davis hgadmin@galton.ucl.ac.uk Home This is a centre without walls, to provide a means of communication between all those involved in Research into or Teaching of Human Genetics at UCL. Knowledge of Human Genetics has increased at an astounding rate in the past five years. Most single gene defects have been localised to chromosomes and several hundred have been precisely identified. Early diagnosis even at the preimplantation stage of development is in some cases a reality and active research on gene therapy is in progress. The complete DNA sequence of the human genome is expected to be available soon. The emphasis in now gradually moving towards the more complex problems of multifactorial disease including disorders such as heart disease, epilepsy and the common cancers as well as the very complicated syndromic developmental abnormatlities. Publicity about human genetics in the media has led to greatly increased public expectations, especially in regard to individual assessment of genetic risks. Membership Seminars Workshops Jobs ... Useful links Last updated 29th April 2003

48. Annual Reviews - Error Provide systematic, periodic examinations of scholarly advances through critical authoritative reviews. Includes abstracts, subscription required for full text access. http://genom.annualreviews.org/

An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Annual Reviews Online uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Annual Reviews cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Annual Reviews cookie to use the system. What Gets Stored in a Cookie? Annual Reviews Online only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

49. The Center For Human Genetics - Duke University Medical Center The Duke Center for human genetics is internationally recognized for its pioneering efforts in the mapping of complex genetic disease. http://www.chg.duke.edu/

50. Scientists Identify The Gene For Familial Dysautonomia, A Degenerative Neurologi Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder. http://www.eurekalert.org/pub_releases/2001-01/TAJo-Sitg-1001101.php

Public release date: 10-Jan-2001 Contact: Kate Beauregard kbeaure@emory.edu The American Journal of Human Genetics Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder In the March issue of The American Journal of Human Genetics, two groups report that mutations in the IKBKAP gene, encoding the protein IKAP, cause Familial Dysautonomia (FD). Two single base pair mutations in this gene account for nearly 100% of FD cases, and this finding will revolutionize genetic testing for this devastating disorder. FD is almost exclusively found in people of Ashkenazi Jewish origin, and it is estimated that 1 out of every 32 people in this population carry an FD mutation. People with two mutant copies of the IKBKAP gene show poor development of and degeneration of the sensory and autonomic nervous systems. The symptoms in these affected individuals include: abnormal sweating, hypertension, difficulty feeding and sucking, gastrointestinal dysfunction, and insensitivity to pain. FD is fatal; only 50% of patients reach age 30 years. The major FD mutation, which accounts for 99.5% of disease chromosomes, results in aberrant splicing of the IKBKAP RNA and thus the loss of one of the coding regions for the IKAP protein. A second, much less common mutation was found to cause a single amino acid change in a putative regulatory region of the protein. Together, these mutations are believed to account for all of the Ashkenazi Jewish cases of FD. With this finding, genetic testing for FD will become very effective and much less expensive.

51. HUMAN GENETICS Home Page WELCOME TO THE RWJMS human genetics COURSE WWW PAGE. From D Welcome to RWJMS human genetics course World Wide Web page. This site http://www2.umdnj.edu/~genetics/hg-1.htm

WELCOME TO THE RWJMS HUMAN GENETICS COURSE WWW PAGE From: D. Day-Salvatore, M.D., Ph.D., Course Director ( genetics@rwja.umdnj.edu Welcome to RWJMS HUMAN GENETICS course World Wide Web page. This site is a description of and resource center for the course. This course is part of the first year academic schedule for Robert Wood Johnson Medical School of the University of Medicine and Dentistry of New Jersey. This will also serve as a link to other related sites on the internet which the medical student might find helpful. Main index of resources available at this www page: Course description and other pertinent information. Topics covered in the course. Faculty associated with course. Textbooks and software. ... Life outside of RWJ Medical School. If you are relatively new to the World Wide Web, you may wish to read the NCSA Mosaic Demo Document . There is also the Suggested Starting Points for Internet Exploration . You may wish to use the following resources to keep track of the evolution of cyberspace and to find information on the Internet: Recommended WWW browser for this site: Questions or help with the course Please send e-mail to Rosemarie Peschek, course coordinator at

52. Default European Bioethics Convention, Human Rights Biomedicine human cloning, organ transplantation, biomedical research, human embryo foetus, human genetics, xenotransplantation, http://www.coe.int/T/E/Legal_affairs/Legal_co-operation/Bioethics/

Legal affairs Site Index About us Legal Co-operation ... Transnational criminal justice Bioethics Draft Protocol on Biomedical Research approved by the CDBI more The protection of the human embryo in vitro : report published more Oviedo Convention This international Convention, signed by most of the European States, sets out the fundamental principles applicable in day-to-day medicine as well as those applicable to new technologies in human biology and medicine. ( more Bioethics at the Council of Europe Biological and medical research have produced spectacular advances in the health field, but they also raise questions concerning a number of fundamental values, such as the individual, the family, health, private life, human rights and human dignity. ( more News Steering Committee on Bioethics (CDBI) European Conference of National Ethics Committees (COMETH) ... Conference (1-2 December 2003) Conferences and Symposia Texts adopted, publications, reports Texts made public ... Contact the Secretariat Biomedical research The purpose of our work is to define and safeguard fundamental rights in biomedical research, in particular of those participating in research. (

53. Human Diversity (Richard Lewontin) - Review A review by Danny Yee of Lewontin's introduction to human genetics and human biology. http://dannyreviews.com/h/Human_Diversity.html

Danny Yee's Book Reviews Subjects Titles Authors ... Latest Human Diversity Richard Lewontin Scientific American Library 1995 [ Amazon A book review by Danny Yee Differences between people or groups of people, and the biological bases of such differences, are common subjects for dinner-party debates and mass-media stories, especially when sex, intelligence, or race are involved. But popular thinking in this area is beset with confusions perhaps not surprisingly given that such confusions and inaccuracies are all too common amongst scientists and scholars, even in fields such as anthropology. A straightforward, accessible explanation of the realities of human biological diversity, Human Diversity therefore answers a vital need. In Human Diversity Lewontin sticks to straight science, taking a less polemical approach than in Not in Our Genes (co-authored with Leon Kamin and Steven Rose). He begins with a broad overview of human variety, of social, sexual, and regional differentiation. (This and three other chapters are illustrated with short photo-essays.) Then in a key chapter "genes, environment, and organism" he outlines the relationships between the causal forces that shape human beings, explaining the basics of development and the importance of norms of reaction. The interconnection of the biological and the social is a theme that runs through Human Diversity , but Lewontin is a population geneticist rather than an anthropologist and his primary focus is on biological, and in particular genetic, diversity. In three chapters he explains the basics of genetics and genetic variation, illustrated with examples from

54. Institute Of Human Genetics - University Of Minnesota Education Information for Patients Informatin, Events, and Meetings, (c) 2001 Institute of human genetics Send comments to webmaster. http://www.ihg.med.umn.edu/

(c) 2001 Institute of Human Genetics Send comments to webmaster

55. Human Genetics University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS. human genetics for M1 STUDENTS. INTRODUCTION http://www.uic.edu/classes/bms/bms655/

University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS HUMAN GENETICS for M-1 STUDENTS INTRODUCTION Organization of the Course Required and Optional Texts General Introduction MENDELIAN INHERITANCE General Background categories of genetic diseases population frequencies modes of inheritance ... Pedigree Construction Modes of Inheritance autosomal dominant inheritance heterozygous affected phenotype hallmarks Punnett square ... Imprinting CHROMOSOMAL INHERITANCE Importance Karyotype Chromosome Replication Autosomal Chromosomal Abnormalities ... Uniparental Disomy MULTIFACTORIAL INHERITANCE Importance Regression to the mean Polygenic Inheritance The Multifactorial Model ... Hallmarks of Multifactorial Inheritance LINKAGE AND MAPPING Introduction X-linkage Autosomal Linkage POPULATION GENETICS Introduction Gene and Genotype Frequencies Codominant Alleles Hardy-Weinberg Equilibrium ... X-linked loci uizzes on the five major topics listed above are available on-line at our secure Mallard site. Click here and the UIC WWW Identification Service will ask for your netid and then your password (these are the same as those you use for email.)

56. Department Of Molecular And Human Genetics - Baylor College Of The Department of Molecular and human genetics offers a variety of research, clinical, and training programs in genetics to graduate, medical, and postdoctoral http://imgen.bcm.tmc.edu/molgen/

Latest News and Announcements Dr. Huda Y. Zoghbi named to National Academy of Sciences March of Dimes Walk America - Sunday April 25, 2004 5K Run for Research To Benefit the Chromosome 18 Registry and Research Society - Saturday April 24, 2004 ... More News and Announcements

57. PharmGKB: The Pharmacogenetics And Pharmacogenomics Knowledge Base Integrated resource about how variation in human genetics leads to variation in response to drugs. http://www.pharmgkb.org/

Search PharmGKB: sign in help feedback Welcome Overview Events Projects Policies ... Register The PharmGKB is an integrated resource about how variation in human genes leads to variation in our response to drugs. more Browse: Genes with PharmGKB Primary Data Drugs with PharmGKB Primary Data Genes with Genotype Data Diseases with PharmGKB Primary Data ... more Search PharmGKB: e.g. a gene ("TPMT"), drug ("codeine") or disease ("leukemia") G enomic data, molecular and cellular phenotype data, and clinical phenotype data are accepted from the scientific community at large. These data are then organized and the relationships between genes and drugs are then categorized into the following categories: PGRN RFA NIH RFA for PGRN Renewal PharmGKB Renewal UCSF Transporter Priorities Useful Links Download Coriell Sample Sets Phenotype Datasets PGRN Resources Database Sign In User Id: Password: Have you registered? Did you forget your password? feedback sitemap ... citing pharmgkb The PGRN is financially supported by grants from NIGMS NHLBI NHGRI NIEHS ... NCI , and NLM within the NIH HHS . PharmGKB is managed at Stanford University

58. Department Of Human Genetics - Mount Sinai School Of Medicine The Department of human genetics is a hybrid basic science and clinical department that offers a broadbased program of instruction, research, and clinical http://www.mssm.edu/genetics/

mssm education mssm research mssm directory departments ... search mssm Questions? Contact the Web Development Office

59. Cambridge Journals Online - Journal Home Page My CJO Index, My CJO Homepage Annals of human genetics, Annals of human genetics Published for the Galton Laboratory, University College London http://journals.cambridge.org/jid_HGE

My CJO Homepage You are logged in as Guest No Institution Recognised Browse Journals Alphabetically By Subject Area Subscribed Journals Advanced Search Site Holdings Account Options Personalise Help Context Help Contents FAQs Diagnostics Site Map Password Help Advanced Search Quick Search Annals of Human Genetics Published for the Galton Laboratory, University College London Show Back Volumes Editor(s): Sue Povey, Galton Laboratory, University College London, UK C. A. B. Smith, Galton Laboratory, University College London, UK Description Annals of Human Genetics has a long-standing reputation for publishing work of high academic quality. It presents the results of original research directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Most papers address one of the following broad categories: biochemical and molecular genetics, human population genetics, gene mapping, cytogenetics, clinical genetics or mathematical models applied to sets of family or population data. Annals of Human Genetics is international in scope and each paper is refereed rigorously for originality and relevance.

60. Cambridge Journals Online - Journal Home Page human genetics ReferencesBIOL 121 human genetics References. Pedigree Symbols; One ELSI Web Resources; Selected Human Genetic Disease Resources. This document maintained http://journals.cambridge.org/journal_AnnalsofHumanGenetics

My CJO Homepage You are logged in as Guest No Institution Recognised Browse Journals Alphabetically By Subject Area Subscribed Journals Advanced Search Site Holdings Account Options Personalise Help Context Help Contents FAQs Diagnostics Site Map Password Help Advanced Search Quick Search Annals of Human Genetics Published for the Galton Laboratory, University College London Show Back Volumes Editor(s): Sue Povey, Galton Laboratory, University College London, UK C. A. B. Smith, Galton Laboratory, University College London, UK Description Annals of Human Genetics has a long-standing reputation for publishing work of high academic quality. It presents the results of original research directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Most papers address one of the following broad categories: biochemical and molecular genetics, human population genetics, gene mapping, cytogenetics, clinical genetics or mathematical models applied to sets of family or population data. Annals of Human Genetics is international in scope and each paper is refereed rigorously for originality and relevance.

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