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DNA Polymorphisms as Disease Markers (Paperback, Softcover reprint of the original 1st ed. 1991)
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DNA Polymorphisms as Disease Markers (Paperback, Softcover reprint of the original 1st ed. 1991)
Series: NATO Science Series A:, 214
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The purpose of this workshop was 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
implications of their studies. The main issues are 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
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