Hereditary diseases: methods of their determination

Genetic Inheritance, Autosomal Dominant, X-Linked Recessive, Mitochondrial Disease Polygenic Mtdna (Health And Medical Video July 2018).

Hereditary human diseases - diseases caused by chromosomal and gene defects. The basis of hereditary diseases are genetic, chromosomal and mitochondrial violations of hereditary information.

Do not be confused with hereditary and congenital diseases. Congenital diseases are caused not only by hereditary but also by external factors, for example, the negative influence on the embryo of chemicals, drugs or irradiation.

Hereditary human diseases can be detected immediately after birth, and may occur after a long time.

About 10% of all human diseases are due to pathological genes or genes that are responsible for the propensity to illness.

Classification of human hereditary diseases

  1. Genetic Diseases. The result is a result of DNA damage at the gene level. These diseases include the Niemann-Pick disease and phenylketonuria.
  2. Chromosomal diseases. Diseases associated with chromosomal anomalies or chromosome aberrations. Examples of chromosomal diseases are Down syndrome, Klinefelter syndrome and Patau syndrome.
  3. Diseases with hereditary predisposition (Hypertension, diabetes mellitus, rheumatism, schizophrenia, ischemic heart disease).

Methods of determining hereditary diseases

Human genetics studies the features of the inheritance of genetic features, depending on the genotype of a person and the factors of the environment. Despite the difficulties in research, human genetics today is much better than the genetics of other organisms.

Scientists distinguish the following methods for determining heredity and genetic diseases.

  1. Genealogical (genetic) method is based on the study of the pedigree of man. This method helps to identify the features inheritance of normal and pathological signs of the human body.
  2. Twin method is the study of twins to detect the influence of heredity and the environment on the development of diseases. The basis of this method is the differences between identical and different-faced twins caused by different factors.
  3. Cytogenetic method. The basis of this method is the study of the structure of chromosomes in healthy and sick people.
  4. Biochemical method. With this method, scientists are investigating the features of human metabolism (many hereditary diseases are directly related to metabolic disorders).
  5. Immunogenetic method. This method makes it possible to diagnose congenital immunodeficiency pathologies.
  6. The method of dermatoglyphics - the study of papillary patterns of palms and feet. Dermatological patterns remain unchanged throughout human life. Dermatological analysis is used to diagnose some genomic and chromosomal mutations.

Prevention of hereditary diseases

The most effective and widespread method of prophylaxis of hereditary diseases is medical-genetic counseling, which allows you to prevent the appearance of a sick child in the family. First of all, it relates to severe developmental defects and hereditary diseases.

Hereditary diseases are a tragedy not only for the patient, but for the whole of his family. An early diagnosis of hereditary pathology will help not only prepare for the disease morally, but also identify possible treatment methods.

Hereditary diseases: methods of their determination

Category Of Medical Issues: Diseases

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