DNA POLYMORPHISMS AS DISEASE MARKERS
by Dr. D.J. Galton, St. Bartholomew's Hospital, London (U.K.)
The purpose of this volume `DNA Polymorphisms as Disease Markers' (NATO ASI SERIES A214) is to assess the value of DNA polymorphisms for the prediction, diagnosis or elucidation of aetiology for common metabolic diseases such as diabetes, hyperlipidaemia and atherosclerosis.
The advent of recombinant DNA techniques has produced an explosion in knowledge of restriction site polymorphisms and hypervariable sequences around candidate genes for such common metabolic diseases as atherosclerosis, hyperlipidaemia and diabetes mellitus. These diseases are the major causes of morbidity and mortality in Western societies today. Since 1983 it has become apparent that there is much more variation in the frequency and sites of these DNA polymorphisms in human populations than was initially appreciated and that the majority of these DNA polymorphisms are only linkage markers for the disease. Consequently it was considered timely for laboratories involved in the mapping of these DNA mutations to meet together to discuss the impliations of their studies. The main contributions focus on whether such DNA polymorphisms will lead to an identification of major aetiological loci and which are the best techniques to achieve this? What is the cause of the differences in frequencies of such polymorphisms amongst world populations? Are such studies best conducted in homogeneous populations or in pedigrees? Are haplotypes, though more laborious to construct, a better way to proceed than analysis of single site polymorphisms? What are the consensus polymorphic sites that relate to the common metabolic diseases of diabetes, atherosclerosis and the hyperlipidaemias?
The real need now to discuss the theoretical background behind the use of DNA polymorphisms and attempt to interpret all the information that has been obtained during the last seven years is incorporated in this volume. The importance of these studies is that they may lead directly to the identification of the inherited defects of the common metabolic diseases of diabetes, hyperlipidaemia and atherosclerosis and thus provide not only a better understanding of these diseases' pathologies and suggest new approaches to therapy but also identify genetic markers for early identification of individuals susceptible to these disorders.
Reference books: A112, A140, A144, A163, A167, A169, A174, A214, H8, H59,