The discipline of genetic epidemiology pertains to the vertical transmission of the susceptibility (predisposition) to a complex disease in a structured population. This statement meets halfway 1 the broad definitiongiven by N. E. Morton and S. c. Chung in 1978 2 and the concise one given by M. -C. King et al. in 1984. 1t pinpoints the fundamental genetic hypothesis, namely, the existence of an inherited condition that predisposes an individual to a specific disease, and the corresponding subject ofinvestigation, the family. Thus, the genetic epidemiological situation consists of three basic elements: (l) the genealogical structure, (2) the mode of inherit ance (i. e., the "genetic model") for the trait of interest, and (3) the observable phenotypes of susceptibility. It is clear that genetic epidemiology is a research field posi tioned at the intersection of molecular genetics, population gen etics, and clinical genetics. Perhaps the genealogical tree should be its central element: it evidences something forgotten in mole cular genetics, namely the relationships, and associations with probabilistic and statistical concepts from population genetics. It offers a structure and a "history" for those clinicians studying familial diseases who are searching for genetic determinants of susceptibility. The genetic epidemiologist begins his analysis with a point on this genealogical tree, namely the proband, and attempts to carry out (nonrandom) "ascertainment sampling" by using a strategy that depends on the form and dimension (extended pedigrees versus nuclear families) of the tree.
Tautu / Lynch
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Weitere Infos & Material
I. Introduction.- Genetics of Common Tumors.- Pitfalls and Prospects in Genetic Epidemiology of Cancer.- II. Studies on Genetic Epidemiology.- Familial Susceptibility to Breast Cancer.- Linkage Mapping of Cancer Susceptibility Genes.- Genetic Epidemiology of Retinoblastoma.- Genetic Epidemiology of Cancer and Predisposing Lesions.- Search for Genetic Factors in the Etiology of Breast Cancer.- Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases.- Analysis of Association in Nuclear Families.- Ascertainment Problems in Family Data: Methodological Aspects.- Polygenic vs Monogenic Inheritance of Dysplastic Nevi and Malignant Melanoma: Yesterday’s Debate or the Answer of Tomorrow?.- Genetic Epidemiology and the Familial Atypical Multiple Mole Melanoma Syndrome.- III. Computer Applications.- Computer Simulation Methods in Human Linkage Analysis.- Computer Programs for Linkage Analysis.- A Comprehensive Pedigree Analysis Tool: FAP (Family Analysis Package).- List of Abbreviations.- Subjeet Index.
