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The genetics of type 1 diabetes: family and population studies

Bain, Stephen Charles (1994)
M.D. thesis, University of Birmingham.

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Abstract

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.

Type of Work:M.D. thesis.
School/Faculty:Faculties (to 1997) > Faculty of Medicine and Dentistry
Department:Medicine
Subjects:RC Internal medicine
Institution:University of Birmingham
Library Catalogue:Check for printed version of this thesis
ID Code:35
This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder.
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