Landmarks in Medical Genetics: Classic Papers with Commentaries

Hardcover | June 2, 2004

EditorPeter S. Harper

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Advances in genetics over the past 50 years have been dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field areoften unfamiliar with the key research that has led to many developments that now are accepted and familiar. Few have time to search or the original papers, which are scattered and often difficult to obtain. This collection has been edited mainly for medical geneticists and genetics researchers whowish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context and serve to unify the different parts of the book. They also help make it a readable and authoritative source of information. The papers chosen fall into several groups. First are classic descriptions of important genetic disorders, often from the pre-mendelian era. The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene mapand the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context.

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Advances in genetics over the past 50 years have been dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field areoften unfamiliar with the key research that...

Peter S. Harper is at University of Wales College of Medicine.

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Format:HardcoverDimensions:336 pages, 8.82 × 11.1 × 1.1 inPublished:June 2, 2004Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0195159306

ISBN - 13:9780195159301

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Table of Contents

1. George Huntington On Chorea (1872): Huntington's disease2. John Hay: Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813): Hemophilia3. Edward Meryon: On Granular and Fatty Degeneration of the Voluntary Muscles (1852): Duchenne Muscular Dystrophy4. William Osler: On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the Skin and Mucous Membranes (1901): Hereditary Hemorrhagic Telagiectasia5. Asbjorn Folling: The Excretion of Phenylalanine in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934): Phenylketonuria IPART II. Mendelian Inheritance in Man6. Archibald E. Garrod: The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902): Alkatonuria and Autosomal Recessive Inheritance7. William C. Farabee: Inheritance of Digital Malformations in Man (1905): Autosomal Dominant Inheritance in Brachydactyly8. William Bateson: Evidence as to Mendelian Inheritance in Man (1909): Mendelian Inheritance in Man9. Edmund B. Wilson: The Sex Chromosomes (1911): The Sex Chromosomes10. G.H. Hardy: Mendelian Proportions in a Mixed Population (1908): Mendelian Proportions in a Mixed PopulationPart III. Human Chromosomes and Their Disorders11. Joe Hin Tjio and Albert Levan: The Chromosome Number of Man (1956): The Chromosome Number of Man12. Jerome Lejune, Marthe Gautier, and Raymond Turpin: Study of the Somatic Chromosomes of Nine Mongoloid Children (1959): An Extra Chromosome in Down's Syndrome13. Patricia A. Jacobs and J.A. Strong: A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959): Sex Chromosome Anomalies, XXY14. C.E. Ford, K.W. Jones, P.E. Polani, J.C. de Almeida, and J.H. Briggs: A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome) (1959): Sex Chromosome Anomalies: Turner Syndrome15. David H. Carr: Chromosome Studies in Spontaneous Abortions (1965): Chromosomes and Spontaneous Abortion16. Torbjorn Caspersson, Gosta Lomakka, and Lore Zech: The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971): Fluorescence Patterns of Human Chromosomes17. P.C. Nowell and D.A. Hungerford: A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960): Chromosome Abnormality in Leukemia I18. Janet D. Rowley: A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973): Chromosome Abnormality in Leukemia IIPART IV. Human Gene Mapping19. Karl Landsteiner: On Aggluination Phenomena of Normal Human Blood (1901): The ABO Blood Group System20. Julia Bell and J.B.S. Haldane: The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937): Linkage Between Color-Blindness and Hemophilia21. Roger P. Donahue, Wilma B. Bias, James H. Renwick, and Victor A. McKusick: Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968): Duffy Blood Group Locus and Chromosome I22. Mary C. Weiss and Howard Green: Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967): Human-Mouse Hybrid Cell Lines23. David Botstein, Raymond L. White, Mark Skolnick, and Ronald W. Davis: Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms (1980): A Genetic Linkage Map in Man24. James F. Gusella, Nancy S. Wexler, P. Michael Conneally, Susan L. Naylor, Mary Anne Anderson, Rudolph E. Tanzi, Paul C. Watkins, Kathleen Ottina, Margaret R. Wallace, Alan Y. Sankaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, and Joseph B. Martin: A Polymorphic DNA Marker GeneticallyLinked to Huntington's Disease (1983): A DNA Marker Linked to Huntington's Disease25. Louis M. Kunkel, Anthony P. Monaco, William Middlesworth, Hans D. Ochs, and Samuel A. Latt: Specific Cloning of DNA Fragments Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985): Cloning of DNA in an X Chromosome Deletion PatientPART V. From Biochemical to Molecular Genetics26. Archibald E. Garrod: The Inborn Errors of Metabolism (1908): Inborn Errors of Metabolism27. L.S. Penrose: Phenylketonuria: A Problem in Eugenics (1946): Phenylketonuria II28. Gerty T. Cori and Carl F. Cori: Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952): Glycogen Storage Disease29. H. Harris: Enzyme Polymorphisms in Man (1966): Enzyme Polymorphisms30. Linus Pauling, Harvey A. Itano, S.J. Singer, and Ibert C. Wells: Sickle Cell Anemia, a Molecular Disease (1948): Sickle Cell Anemia31. A.C. Allison: Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954): Protection against Malaria in Sickle Cell Trait32. V.M. Ingram: Gene Mutations in Human Hemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957): Gene Mutations in Human Hemoglobin33. J.D. Watson and F.H.C. Crick: Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid (1953): A Structure for DNAPART VI. Variations on Mendelian Inheritance34. Y. Imai and D. Moriwaki: A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936): Cytoplasmic Inheritance and Leber's Disease35. Mary F. Lyon: Gene Action in the X-chromosome of the Mouse (Mus Musculus L.) (1961): Gene Action in the X-chromosome36. L.S. Penrose: The Problem of Anticipation in Pedigrees of Dystrophia Myotonia (1948): Anticipation in Myotonic Dystrophy I37. C.J. Howeler, H.F.M. Busch, J.P.M. Geraedis, M.F. Niermeijer, and A. Staal: Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989): Anticipation in Myotonic Dystrophy II38. B.M. Cattanach and M. Kirk: Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985): Maternally and Paternally Derived Chromosome Regions39. Alfred G. Knudson, Jr.: Mutation and Cancer: Statistical Study of Retinoblastoma (1971): RetinoblastomaPART VII. Management and Therapy of Genetic Disease40. Horst Bickel, John Gerrard, and Evelyn M. Hickmans: Influence of Phenylalanine Intake on Phenylketonuria (1953): Phenylalanine Intake and Phenylketonuria41. Philip Levine, Lyman Burnham, E.M. Katzin, and Peter Vogel: The Role of Iso-Immunization in the Pathogenesis of Erythroblastosis Fetalis (1941): Pathogenesis of Erythroblastosis Fetalis42. R. Finn, C.A. Clarke, W.T.A. Donohoe, R.B. McConnell, P.M. Sheppard, D. Lehane, and W. Kulke: Experimental Studies on the Prevention of Rh Haemolytic Disease (1961): Prevention of Rh Hemolytic Disease43. Yuet Wai Kan and Andree M. Dozy: Antenatal Diagnosis of Sickle-cell Anaemia by DNA Analysis of Amniotic-fluid Cells (1978): Antenatal Diagnosis of Sickle Cell Anemia44. Michael M. Kaback, and Robert S. Zeiger: Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Programme for the Prevention of Recessive Genetic Disorders (1972): Carrier Screening for Tay-Sachs Disease45. R.W. Smithells, S. Sheppard, C.J. Schorah, M.J. Seller, N.C. Nevin, R. Harris, A.P. Read, D.W. Fielding: Possible Prevention of Neural-tube Defects by Periconceptional Vitamin Supplementation (1980): Prevention of Neural-tube DefectsPART VIII. Genetics, Society, and Medicine46. William J. Schull and James V. Neel: Radiation and the Sex Ratio in Man. Sex Ratio among Children of Survivors of Atomic Bombings Suggests Induced Sex-linked Lethal Mutations (1958): Radiation and the Sex Ratio47. Reports from the Genetics Congress: The Geneticists Manifesto. Men and Mice at Edinburgh (1939): The Geneticists' Manifesto

Editorial Reviews

"Landmarks in Medical Genetics, edited by Peter S. Harper, is an excellent book that should be mandatory reading not only for all trainees in genetics but for all fellows embarking on a career in academic medicine. The articles collected in this text are a testament to thoughtful observationand carefull description. ...I believe that this book is itself a landmark, an excellent historical text that will hopefully spawn a series of similar collections, each focusing on areas on which this one merely touches." --JAMA