Introduction to Genetic Models and Analyses for Diabetes and Diabetes Related Phenotypes

Ken C. Chiu

《Journal of Genetics and Molecular Biology》 11卷4期 (2000/12) Pp. 160-160

https://doi.org/10.30047/JGMB.200012.0011

並列摘要

The Human Genome Initiative is a worldwide research effort with the goal of analyzing the structure of the genome, and determining the location and sequence of the estimated 100,000 human genes. The information generated by this project is expected to serve as the source book for biomedical science in the 21st century. It will help us to understand and eventually treat many of the more than 4000 genetic diseases that affect mankind, as well as the many multifactorial diseases in which genetic predisposition plays an important role. The construction of a genetic map with highly polymorphic markers allows the localization of disease loci without knowledge of underlying pathophysiology and will, in turn, drastically accelerate the identification of disease genes. With the development of informatics and technology within the human genome project, the potential for understanding the genetic etiologies of disease has increased dramatically. Thus it should be possible to unravel the genetic basis of NIDDM in a reasonable period of time.
Traditional linkage analysis is a very powerful tool in identification of the loci of the rare Mendelian diseases, such as familial hyperinsulinemic hypoglycemia of infancy (PHHI). A high resolution map can be obtained from studying a handful of pedigrees, leading to the identification of the causal genes (sulfonylurea receptor, beta cell inward rectifier, and glucokinase). However, the study of complex diseases is problematic and plaqued by irreproducibility. Many highly innovative strategies, with luck, will be required to identify the causatic sequence variations for multifactorial and polygenic type 2 diabetes.

並列關鍵字

genetic model ； diabetes related phenotype