The preferred method for clinical diagnosis of monogenic diseases
Biochemical examination refers to the qualitative and quantitative analysis of enzymes, proteins and their metabolites by biochemical means. It is a clinical diagnosisMonogenic diseaseThe preferred method for.One of the most common is to check for enzyme defects.
Qualitative and quantitative analysis of enzymes, proteins and their metabolites by biochemical means
principle
Because genes control the synthesis of enzymes and proteinscontrolA series of metabolic reactions of the body are caused by gene mutationMonogenic diseaseIt will inevitably lead to abnormal enzymes and proteins, and the intermediate products, substrates and end products involved in the metabolic process will also have qualitative and quantitative changes.Therefore, the detection of these substances can reflect whether a certain gene is damaged to make a diseasediagnosis。asPhenylketonuriaPatients canPhenylalanineThe concentration increases, and the urine containsPhenylpyruvateMake a diagnosis.Albinism patients cantyrosinaseThe diagnosis is made when the activity decreases.
At present, there are about 200 kinds of abnormal proteins and enzyme activities that can be analyzed by electrophoresis, chromatography, immunity, amino acid sequence, etctechnologyTest.For testingMaterial ScienceMainly serum, living tissue (liver, kidney, skin, thyroid, intestinal mucosa, etc.) and culturedFibroblast。[1]
