Bain, Stephen Charles (1994)
M.D. thesis, University of Birmingham.
Type 1 (insulin-dependent) diabetes mellitus is caused by autoimmune destruction of insulin-producing pancreatic ß-cells. Genetic susceptibility is necessary for the development of type 1 diabetes but inheritance does not follow simple Mendelian rules and environmental factors are also involved. Identification of the genes which mediate disease susceptibility should allow recognition of individuals at high risk of disease; this will facilitate the study of environmental factors and possibly the development of strategies for prevention. Further, the characterisation of susceptibility genes will allow a greater understanding of the aetiopathogenesis of type 1 diabetes and may lead to new therapeutic approaches. A major limiting factor, hindering the genetic dissection of type 1 diabetes, has been the lack of a large well-characterised clinical resource for study. This thesis describes how I have established a Repository of immortalised cell lines from large numbers of ethnically matched controls, sporadic type 1 diabetics and type 1 diabetic multiply affected families. The family resource is now the largest single collection of it's kind and is used by research groups throughout the world. Using this resource, I have further characterised HLA-mediated susceptibility to Type 1 diabetes, particularly with regard to age-related heterogeneity and inherited susceptibility. In addition, I have confirmed the existence of linkage of type 1 diabetes to a gene (or genes) within the insulin gene region on chromosome 11p. I have also performed association studies using other candidate genes. These studies have led to a significant advance in the field of the genetics of type 1 diabetes and bequeath a permanent resource for future research.
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