7.Conclusion.

Based on the study of metabolism. These methods are widely used in the diagnosis of hereditary diseases caused by gene mutations, and the detection of heterozygous carriers of diseases. As we already know, genes are not in themselves form the signs, and with their encoded proteins. Proteins are formed in the body interconnected system of biochemical reactions. The study of these reactions and can detect many diseases.

Famous dozens of inherited metabolic disorders. Thus, diabetes develops in very active synthesis of insulin by the pancreas that is responsible for glucose uptake by cells. The patient is injected regularly absent insulin and metabolism normal. Fenylketonurya caused by mutation of a gene located on chromosome 12, and is characterized by decreased activity of the enzyme that converts the amino acid phenylalanine to tyrosine. Increased concentration in blood phenylalanine accompanied by increased content of other harmful substances to the body. As a result, homozygous for mutant alleles of children (about 0.01%) in the absence of a diet that excludes foods containing phenylalanine, suffer mental retardation.

Sickle cell anemia is caused by genetic mutations that lead to change in the sixth position of the hemoglobin chain glutamic acid valine. Consequently, the normal hemoglobin A to hemoglobin S, which is oxygen deficient polymerizes to form crystals and fibers, erythrocytes become characteristic sickle shape and unable to effectively connect oxygen. Homozygous recessive gene on the patients die at an early age, and heterozygous (because of incomplete dominance) - At high physical stress experiencing fatigue.

These biochemical studies allow to cure or compensate for the effects of the disease by introduction of additional enzymes are not synthesized in the patient. Along with their diet to exclude the possibility of products that can not be acquired due to the lack of processing enzymes (eg, carbohydrates - from the diet of patients with diabetes).

One of the systems of the human blood groups AB0 determined by a combination of three allelic genes that give 4 phenotype - 4 blood types, different proteins on the surface of red blood cells and plasma. Another important blood group system is the Rh system (Rh), which is responsible for the presence on the surface of red blood cells Rh factor (open red blood cells when injected rhesus monkeys rabbits). Synthesis of Rh factor is controlled by three coupled genes, each of which has at least two alleles. The combination of these alleles form the genotypes with the presence of (Rh +) or absence (Rh-) Rh factor. When blood transfusion is necessary to know the blood group system by AB0 and Rh system.

If the mother of a child has the blood of Rhesus negative (Rh-), and his father - with a positive (Rh +), then the dominant force Rh-positive blood allele embryo is Rh-positive (if the father is Rh-negative allele). Incompatibility of blood between mother and child is in their organisms resistance.

At first pregnancy fetal red blood cells penetrate the mother's blood only at the end of embryogenesis, as serious damage to the child is not found. In the second pregnancy accumulated antibodies initially penetrate the blood of the fetus and cause its destruction of erythrocytes with Rh factor. The child develops hemolytic anemia. In subsequent pregnancies of antibodies further increases, and this leads to fetal death. If the woman was made transfusion of Rh-positive blood before the first pregnancy, in combination with homozygous Rh-positive husband, she is childless.

After find out the biochemical nature of this phenomenon have been developed medical methods to safely mother bear and bear children at any combination of Rh factors. In Europe, only 15% of people have the blood of Rh-, and the other 85% - Rh +.

The essence of biochemical methods: studying changes in biological parameters of the body associated with changing the genotype. Application of biochemical studies showed suspected all hereditary metabolic disease and other forms of well established primary defect gene product managers. Biochemical methods can detect certain compounds lack or excess of their predecessors, and above all chromatographic methods (paper chromatography, ion-exchange resins in thin layers, gas-liquid chromatography, methods of electrophoresis, immunoelectrophoresis, and others.). Combining them with exercise testing significantly increases the informativeness of the study.