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Biochemical and hormonal methods of diagnostics of hereditary diseases
Medical expert of the article
Last reviewed: 04.07.2025
Biochemical and hormonal research methods allow us to identify the main metabolic disorders and synthesis of various hormones associated with hereditary diseases.
Diseases based on metabolic disorders constitute a significant part of hereditary pathology (phenylketonuria, galactosemia, alkaptonuria, etc.). All of them, due to a genetic defect in the synthesis of a certain enzyme, lead to the accumulation of intermediate metabolic products in the patient's blood. Biochemical research methods easily allow us to determine the content of these metabolites in the body and thus suspect hereditary pathology.
Clinical genetics uses genetic polymorphism of a number of enzymes. It is known that there are different forms of the same enzyme that catalyze the same reaction but differ in their molecular structure. Such forms are called isoenzymes. The detection of several isoenzymes of the same enzyme indicates the existence of several alleles of this enzyme.
In other words, in the single-valued loci of homologous chromosomes, alternative states of the same gene responsible for the synthesis of a given enzyme are presented. Such changes occur as a result of mutation. The structure of isoenzymes is genetically determined. The detection of a certain form of isoenzyme in the blood or its absence indicates the genetic defect that underlies the disease.
The α 2 -globulins of blood serum contain the protein haptoglobin (Hp). Electrophoresis can be used to isolate several types of this protein. The most frequently detected types are Hp 1-1, Hp 2-1, Hp 2-2, which differ in electrophoretic mobility and the number of protein components. The types of haptoglobin are genetically determined. They are encoded by a gene located on chromosome 16 (16q22). Currently, a connection has been established between different types of haptoglobin and certain forms of oncological diseases.
Electrophoretic analysis of lipoproteins with determination of the type of DLP allows us to suspect one or another genetically determined defect underlying the disorder of lipoprotein metabolism and leading to the development of early atherosclerosis.
Hormonal testing (17-GPG, TSH, inhibin, free estriol, etc.) also plays an important role in the diagnosis of genetic diseases.
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