Genetic etiology and clusters in a pedigree.
As a preliminary tool in the investigation of a rare medical trait in a single extended pedigree or small community, some tests of non-random distribution of cases are constructed. The metrics quantifying this distribution are functions of relationship or descent. Rejection of the null hypothesis of random distribution is thus an indication of possible genetic effects, although this is not the only viable explanation. The methods are applied to a study of lymphoreticular malignancies in a Newfoundland community. This community has attracted interest by the preponderance of cases, and offers a unique opportunity for a study of the etiology of the conditions. On such a large extended pedigree it may eventually be possible to assess the relative importance of environment, infection and genetics.
D030342:Genetic Diseases, Inborn / Q000209:etiology*; D005826:Genetics, Medical; D005828:Genetics, Population; D006801:Humans; D008433:Mathematics; D008957:Models, Genetic; D010375:Pedigree