Landmarks in Medical Genetics

Peter S. Harper is Professor of Medical Genetics at the University of Wales College of Medicine, Cardiff, UK. Dr Harper's principal research over the past 30 years has been in the areas of Huntington's disease, myotonic dystrophy, and other neuromuscular diseases. He has applied the science of genetics to the delivery of effective and socially aware services for families with genetic disorders. Dr Harper is author of Practical Genetic Counselling, currently in its Fifth Edition, as well as co-author of Huntington's Disease (Third Edition, Oxford University Press, 2002). He is also a series co-editor for the Oxford Monographs on Medical Genetics.

• PART 1: CLASSIC DESCRIPTIONS OF INHERITED DISEASE ; 1. Huntington's disease - George Huntington On Chorea (1872) ; 2. Hemophilia - John Hay: Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813) ; 3. Duchenne Muscular Dystrophy - Edward Meryon: On Granular and Fatty Degeneration of the Voluntary Muscles (1852) ; 4. Hereditary Hemorrhagic Telagiectasia - William Osler: On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the Skin and Mucous Membranes (1901) ; 5. Phenylketonuria I - Asbjorn Folling: The Excretion of Phenylalanine in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934) ; PART 2: MENDELIAN INHERITANCE IN MAN ; 6. Alkaptonuria and Autosomal Recessive Inheritance - Archibald E. Garrod: The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902) ; 7. Autosomal Dominant Inheritance in Brachydactyly - William C. Farabee: Inheritance of Digital Malformations in Man (1905) ; 8. Mendelian Inheritance in Man - William Bateson: Evidence as to Mendelian Inheritance in Man (1909) ; 9. The Sex Chromosomes - Edmund B. Wilson: The Sex Chromosomes (1911) ; 10. Mendelian Proportions in a Mixed Population - G.H. Hardy: Mendelian Proportions in a Mixed Population (1908) ; PART 3: HUMAN CHROMOSOMES AND THEIR DISORDERS ; 11. The Chromosome Number of Man - Joe Hin Tjio and Albert Levan: The Chromosome Number of Man (1956) ; 12. An Extra Chromosome in Down's Syndrome - Jerome Lejune, Marthe Gautier, and Raymond Turpin: Study of the Somatic Chromosomes of Nine Mongoloid Children (1959) ; 13. Sex Chromosome Anomalies, XXY - Patricia A. Jacobs and J.A. Strong: A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959) ; 14. Sex Chromosome Anomalies, Turner Syndrome - 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) ; 15. Chromosomes and Spontaneous Abortion - David H. Carr: Chromosome Studies in Spontaneous Abortions (1965) ; 16. Fluorescence Patterns of Human Chromosomes - Torbjorn Caspersson, Gosta Lomakka, and Lore Zech: The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971) ; 17. Chromosome Abnormality in Leukemia I - P.C. Nowell and D.A. Hungerford: A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960) ; 18. Chromosome Abnormality in Leukemia II - Janet D. Rowley: A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973) ; PART 4: HUMAN GENE MAPPING ; 19. The ABO Blood Group System - Karl Landsteiner: On Aggluination Phenomena of Normal Human Blood (1901) ; 20. Linkage Between Color-Blindness and Hemophilia - Julia Bell and J.B.S. Haldane: The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937) ; 21. Duffy Blood Group Locus and Chromosome I - 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) ; 22. Human-Mouse Hybrid Cell Lines - Mary C. Weiss and Howard Green: Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967) ; 23. A Genetic Linkage Map in Man - 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) ; 24. A DNA Marker Linked to Huntington's Disease - 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 Genetically Linked to Huntington's Disease (1983) ; 25. Cloning of DNA in an X Chromosome Deletion Patient - 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) ; PART 5: FROM BIOCHEMICAL TO MOLECULAR GENETICS ; 26. Inborn Errors of Metabolism - Archibald E. Garrod: The Inborn Errors of Metabolism (1908) ; 27. Phenylketonuria II - L.S. Penrose: Phenylketonuria: A Problem in Eugenics (1946) ; 28. Glycogen Storage Disease - Gerty T. Cori and Carl F. Cori: Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952) ; 29. Enzyme Polymorphisms - H. Harris: Enzyme Polymorphisms in Man (1966) ; 30. Sickle Cell Anemia - Linus Pauling, Harvey A. Itano, S.J. Singer, and Ibert C. Wells: Sickle Cell Anemia, a Molecular Disease (1948) ; 31. Protection Against Malaria in Sickle Cell Trait - A.C. Allison: Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954) ; 32. Gene Mutations in Human Hemoglobin - V.M. Ingram: Gene Mutations in Human Hemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957) ; 33. A Structure for DNA - J.D. Watson and F.H.C. Crick: Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid (1953) ; PART 6: VARIATIONS ON MENDELIAN INHERITANCE ; 34. Cytoplasmic Inheritance and Leber's Disease - Y. Imai and D. Moriwaki: A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936) ; 35. Gene Action in the X-chromosome - Mary F. Lyon: Gene Action in the X-chromosome of the Mouse (Mus Musculus L.) (1961) ; 36. Anticipation in Myotonic Dystrophy I - L.S. Penrose: The Problem of Anticipation in Pedigrees of Dystrophia Myotonia (1948) ; 37. Anticipation in Myotonic Dystrophy II - 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) ; 38. Maternally and Paternally Derived Chromosome Regions - B.M. Cattanach and M. Kirk: Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985) ; 39. Retinoblastoma - Alfred G. Knudson, Jr.: Mutation and Cancer: Statistical Study of Retinoblastoma (1971) ; PART 7: MANAGEMENT AND THERAPY OF GENETIC DISEASE ; 40. Phenylalanine Intake and Phenylketonuria - Horst Bickel, John Gerrard, and Evelyn M. Hickmans: Influence of Phenylalanine Intake on Phenylketonuria (1953) ; 41. Pathogenesis of Erythroblastosis Fetalis - Philip Levine, Lyman Burnham, E.M. Katzin, and Peter Vogel: The Role of Iso-Immunization in the Pathogenesis of Erythroblastosis Fetalis (1941) ; 42. Prevention of Rh Hemolytic Disease - 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) ; 43. Antenatal Diagnosis of Sickle Cell Anemia - Yuet Wai Kan and Andree M. Dozy: Antenatal Diagnosis of Sickle-cell Anaemia by DNA Analysis of Amniotic-fluid Cells (1978) ; 44. Carrier Screening for Tay-Sachs Disease - 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) ; 45. Prevention of Neural-tube Defects - 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) ; PART 8: GENETICS, SOCIETY, AND MEDICINE ; 46. Radiation and the Sex Ratio - 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) ; 47. The Geneticists' Manifesto - Reports from the Genetics Congress: Men and Mice at Edinburgh (1939)

"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 observation and carefull description. ...I believe that this book is itself a landmark, an excellent historical text that will hopefully spawn a series of similarcollections, each focusing on areas on which this one merely touches." --JAMA"...this is a refreshing book with original classic papers reproduced in modern format each accompanied by an insightful commentary placing the paper in context...The clarity of the modern transcription of the texts gives an easy read and the book is neatly split into eight sections...Harper presents a vivid and gripping series of papers, which should be read by all clinicians and scientists in genetics to get an idea of how the specialty has evolved with time....Every genetics department should have a copy of this book and it should be compulsory reading for new trainees."--European Journal of Human Genetics