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Advances in genetics over the past 50 years have 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 are often unfamiliar with the key research that has led to many developments that now are accepted and familiar. Few have time to search for the original papers, which are scattered
and often difficult to obtain.
This collection has been edited mainly for medical geneticists and genetics researchers who wish 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 map and 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.
Landmarks in Medical Genetics: Classic Papers with Commentaries
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)