西藏大学《遗传学》课件-第6章Inborn error of metabolism and molecular disease.pptxVIP

第六章Molecular Disease and Inborn Errors of Metabolism西藏大学《遗传学》 Homeostasis (稳态): The tendency towards a relatively constant state. Molecular Biochemical GeneticsThe study of structure and function of individual genes. Molecular Disease（分子病） A disease in which there is an abnormality in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia. The Effect of Mutation on Pr. FunctionLoss of Pr. function (功能失去突变。the great majority): is seen in (1)recessive diseases; (2)diseases involving haploinsufficiency（单倍不足性）, in which 50% of the gene product is insufficient for nor