疾病的多基因遗传—培训课件.pptVIP

risk： potential blindness foot ulcers, features of autonomic dysfunction, including sexual dysfunction. cardiovascular, peripheral vascular and cerebrovascular disease. Aetiological Classification of Disorders of Glycaemia Type 1 : (beta-cell destruction, usually leading to absolute insulin deficiency) Type 2 : (may range from predominantly insulin resistance with relative insulin deficiency to a predominantly secretory defect with or without insulin resistance) Gestational diabetes Diagnosis ：Blood sugar, urine sugar Treatment: food control (starch fructose？) medicine （Glucobay） insulin injection Genetic defects Several forms of the diabetic state may be associated with monogenic defects in beta-cell function, frequently characterized by onset of mild hyperglycaemia at an early age (generally before age 25 years). They are usually inherited in an autosomal dominant pattern. Patients with these forms of diabetes, have impaired insulin secretion with minimal or no defect in insulin action . Abnormalities at several genetic loci on different chromosomes have now been characterized. HNF1alpha（hepatocyte nuclear factor） The most common form is associated with mutations on chromosome 12 in a hepatic nuclear transcription factor referred to as HNF1alpha . HNF1alpha is a key transcription factor that is essential for pancreatic beta-cell development and function glucokinase gene A second form is associated with mutations in the glucokinase gene on chromosome 7p. Glucokinase converts glucose to glucose-6-phosphate, the metabolism of which in turn stimulates insulin secretion by the beta cell. Thus, glucokinase serves as the glucose sensor for the beta cell. Because of defects in the glucokinase gene, increased levels of glucose are necessary to elicit normal levels of insulin secretion. HNF4alpha gene A third f