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Glossary of terms

 
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     Adenine is a purine derivative, one of the two purine bases involved in the formation of nucleotides, the structural units of DNA and RNA. In DNA, adenine binds (complementary) to thymine through two hydrogen bonds, which helps to stabilize the structure of the nucleic acid. In RNA, adenine binds to uracil (remember that in eukaryotes, RNA is a single-stranded structure).
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 Angina pectoris (angina pectoris, syn. chest frog) is a disease with symptoms of sudden pain (anginal pain) in the chest due to acute lack of blood supply to the myocardium, a clinical form of coronary heart disease.
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      Central neurofibromatosis (another name for neurofibromatosis type II) occurs as a result of a mutation of the merlin gene (also known as schwannomin or NP2), which is located on chromosome 22q12. This gene also belongs to the tumor suppressor genes. Type 2 neurofibromatosis accounts for only 10% of all cases of the disease, i.e. its incidence is much lower compared to NF1.
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    Genetics (from Greek γενητως - descended from someone) is the science of laws and mechanisms of heredity and variability. Depending on the object of study, genetics of plants, animals, microorganisms, humans and others are classified; depending on the methods used by other disciplines - molecular genetics, ecological genetics and others.
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     Niemann-Pick disease is a disease caused by an inherited disorder of lipid metabolism (sphingophospholipids). There is an accumulation of sphingomyelin in the liver, brain, spleen, adrenal glands, kidneys, lymph nodes, skin and blood mononuclear cells.
 
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      Ovules are female gametes of animals, higher plants, and many algae and other protozoa characterized by oogamy. As a rule, eggs are haploid cells, but can have other ploidy in polyploid organisms. The human egg has a diameter of approximately 150 microns.
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     Phenotype is a set of characteristics inherent in an individual at a certain stage of development. The phenotype is formed on the basis of the genotype mediated by a number of external factors. In diploid organisms, dominant genes are manifested in the phenotype.
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Groups of genetic diseases

Diseases of protein metabolism    Autosomal Dominant Disorder    Autosomal recessive diseases    Chromosome syndromes    Diseases inoculated with the X-chromosome    Diseases of carbohydrate metabolism    Diseases of lipid metabolism    Polygenic diseases