Ciba Foundation Symposium 197 ‐ Variation in the Human Genome: Variation in the Human Genome: Ciba Foundation Symposium 197

The mapping of human genes is proceeding rapidly. Genes associated with specific inherited diseases are being identified, often providing insight into the molecular cause of the disease. At the moment, however, little consideration is being given to the variation present in different human populations. Variation in the Human Genome discusses methods of analysing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. Specific disorders such as cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour development susceptibility are used to illustrate this genetic variability and mechanisms of gene mutation and evolution. Content: Phylogeographic Variability In Traditional Societies / Ryk H. Ward And Diana Valencia -- Interpreting Genetic Variability : The Effects Of Shared Evolutionary History / Peter Donnelly -- Microsatellites : Evolution And Mutational Processes / Nelson B. Freimer And Montgomery Slatkin -- The Phenylalanine Hydroxylase Locus : A Marker For The History Of Phenylketonuria And Human Genetic Diversity / Charles R. Scriver, Susan Byck, Lynne Prevost And Liem Hoang -- Genetic And Geographical Variability In Cystic Fibrosis : Evolutionary Considerations / Jaume Bertranpetit And Francesc Calafell -- Unusual Inheritance Patterns Due To Dynamic Mutation In Fragile X Syndrome / Grant R. Sutherland And Robert I. Richards -- Control Of [beta]-thalassaemia By Carrier Screening, Genetic Counselling And Prenatal Diagnosis : The Sardinian Experience / Antonio Cao, M. Cristina Rosatelli And Renzo Galanello -- Multigenic Control Of Skin Tumour Development In Mice / H. Nagase, S. Bryson, F. Fee And A. Balmain -- Population Genetics Of Tumours / W.f. Bodmer And Ian Tomlinson -- Genetic Factors That Contribute To Interindividual Variations In Plasma Low Density Lipoprotein-cholesterol Levels / Jonathan Cohen, Allan Gaw, Robert I. Barnes, Katherine T. Landschulz And Helen H. Hobbs -- Genetic Architecture Of Common Multifactorial Diseases / Charles F. Sing, Martha B. Haviland And Sharon L. Reilly -- World Distribution Of Hla Alleles And Implications For Disease / Julia Bodmer -- Cladistic Approaches To Identifying Determinants Of Variability In Multifactorial Phenotypes And The Evolutionary Significance Of Variation In The Human Genome / Alan R. Templeton -- Quantitative Phenotype Analysis For Localization And Identification Of Disease-related Genes In A Complex Genetic Background / G.m. Lathrop -- The Genetics Of Common Diseases : The Implications Of Population Variability / D.j. Weatherall. [editors, Derek Chadwick And Gail Cardew. Symposium On Variation In The Human Genome, Held At The Ciba Foundation, London, 15 June 1995. Includes Bibliographical References And Indexes. This text discusses methods of analyzing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. It looks at specific disorders to illustrate the genetic variability and mechanisms of gene mutation and evolution.