Cover of “Clinical genetics”

Clinical genetics

учебник

N. P. Bochkov, V. P. Puzyrev, S. A. Smirnikhina ; edited by N. P. Bochkov

  • ГЭОТАР-Медиа
  • 2023
  • 504 pages

Medical subjects

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All chapters of this textbook have been revised and enlarged in line with the development of medical science and practice. Chapters on multifactorial diseases, prevention, treatment of hereditary diseases, environmental genetics and pharmacogenetics have been updated substantially. The text is illustrated with diagrams and fi gures.

The textbook presents new patterns of trends in genetics (epigenetics, small RNAs, uniparental disomies, genetic polymorphism, etc.), which were identifi ed in recent years.

This edition is intended for students of institutions of higher medical education, trained on the specialties “Internal Medicine”, “Pediatrics”, “Preventive Medicine” in the discipline “Medical Genetics”.

  1. 01List of symbols and abbreviations
  2. 02Introduction
  3. 03Chapter 1. Introduction to clinical genetics
    1. Basic concepts
    2. A brief history of medical genetics
      1. Pre-Mendelian period
      2. The discovery of Mendel’s laws
      3. In the 1920s
      4. In the 1930s – 1940s
      5. In the 1950s – the end of the 20th century
    3. Axioms of medical genetics
    4. Genomics and clinical medicine
    5. Characteristics of the human genome
      1. At DNA level
        1. Repeats
        2. Extrachromosomal and circular DNA molecules
        3. Polymorphism
        4. Mitochondrial genome
      2. At the gene level
        1. Functions of genes
      3. Genetic maps of chromosomes
    6. The importance of genetics for medicine
    7. Conclusion
    8. Keywords and concepts
    9. Recommended bibliography
  4. 04Chapter 2. Heredity and pathology
    1. Variability of hereditary traits as a basis of pathology
    2. The role of inheritance and environment in the development of pathology
      1. Mutations as an etiological factor in hereditary diseases
      2. Heredity and pathogenesis of hereditary diseases
      3. Inheritance and clinical picture of diseases
      4. Heredity and disease outcomes
      5. Classification of inherited pathology
      6. Genetic classification of inherited disorders
      7. Clinical classification of hereditary diseases
    3. Genetic basis of homeostasis
    4. Keywords and concepts
    5. Recommended bibliography
  5. 05Chapter 3. Semiotics and clinical diagnostics of inherited diseases
    1. General observations
    2. Particularities of the clinical manifestations of hereditary pathology
      1. Family nature of the disease
      2. The chronic recurrent progressive course
      3. Specific symptoms of hereditary diseases
      4. Multiple organ and system pathological changes
      5. Congenital nature of the disease
      6. Resistance to the most common methods of therapy
    3. General principles of clinical diagnostics of hereditary diseases
    4. Observation and examination of patients and their relatives
      1. Congenital malformations. Genetic mechanisms of embryonic development
      2. Classification and etiology of congenital malformations
      3. Anthropometry
      4. Signs of dysmorphogenesis in the diagnosis of hereditary and congenital pathologies
        1. Signs of dysmorphogenesis
      5. Pregnancy course
    5. Clinicogenealogical method
      1. Compilation of a pedigree
      2. Genealogical analysis
        1. Autosomal dominant inheritance disorders
        2. Autosomal recessive inheritance disorders
        3. X-linked dominant inheritance disorders
        4. X-linked recessive inheritance disorders
        5. Y-linked inheritance
        6. Mitochondrial inheritance
    6. Syndromological approach to diagnostics of hereditary diseases
    7. Paraclinical studies in clinical genetics
    8. Software tool for diagnostics of hereditary diseases
    9. Keywords and concepts
    10. Recommended bibliography
  6. 06Chapter 4. Genetic diseases
    1. Classification
    2. Common patterns of pathogenesis
      1. Pathogenesis of the disease at the molecular level
      2. Cellular-level pathogenesis of genetic disorders
      3. Organ-level pathogenesis
      4. Organismal level
    3. The main characteristics of the clinical picture
      1. Features of the clinical picture
      2. Clinical polymorphism and its causes
      3. Genetic heterogeneity
    4. Clinic and genetics of some genetic disorders
      1. Neurofibromatosis (Recklinghausen disease)
      2. Myotonic dystrophy
      3. Familial hypercholesterolemia
      4. Marfan syndrome
      5. Ehlers–Danlos syndrome
      6. Phenylketonuria
      7. Cystic fibrosis
      8. Adrenogenital syndrome
      9. Duchenne–Becker myodystrophy
      10. Fragile X Mental Retardation Syndrome
    5. Epidemiology
    6. Keywords and concepts
    7. Recommended biblioGraphy
  7. 07Chapter 5. Chromosomal disorders
    1. General issues
    2. Etiology and classification
    3. Effects of chromosomal abnormalities in ontogenesis
      1. Mortality
      2. Congenital malformations
      3. Effects of chromosomal abnormalities in somatic cells
    4. Pathogenesis
    5. Clinical and cytogenetic characteristics of the most common chromosomal disorders
      1. Down syndrome
      2. Patau syndrome (trisomy 13)
      3. Edwards syndrome (trisomy 18)
      4. Trisomy 8
      5. Sex chromosome polysomies
        1. Triple-X syndrome (47, XXX)
        2. Klinefelter syndrome
        3. Y-chromosome disomy syndrome (47,XYY)
        4. Turner syndrome (45,X)
      6. Partial aneuploidy syndromes
        1. “Cat’s cry” syndrome
        2. Wolf–Hirschhorn syndrome (partial monosomy 4p–)
        3. Partial trisomy of the short arm of chromosome 9 (9p+)
      7. Syndromes caused by microstructural chromosomal aberrations
    6. Increased risk factors for congenital chromosomal disorders
    7. Keywords and concepts
    8. Recommended bibliography
  8. 08Chapter 6. Diseases with hereditary predisposition
    1. General characteristics
    2. Approaches to the study of the hereditary preposition to human diseases
      1. Clinical and genealogical evidence of hereditary predisposition
      2. Twin studies
      3. Population studies
    3. Genetic associations
    4. Genes for susceptibility to certain multifactorial diseases
      1. Cardiovascular diseases
      2. Immune-related diseases
      3. Infectious diseases
      4. Malignant neoplasms
    5. The importance of hereditary preposition in common human pathology and clinical practice
    6. Keywords and concepts
    7. Recommended bibliography
  9. 09Chapter 7. Ecological genetics
    1. General issues
    2. Induced mutation process
    3. Pathological manifestations of gene expression
    4. Genetic basis of biotransformation of extraneous chemicals (xenobiotics)
    5. Hereditary pathological responses to external factors
      1. Occupational hazards
      2. Nutrients and food additives
      3. Physical factors
      4. Sensitivity to biological agents
    6. Changes in the composition of a population’s gene pool as a result of genetic disequilibrium
    7. Conclusion
    8. Keywords and concepts
    9. Recommended bibliography
  10. 10Chapter 8. Pharmacogenetics
    1. General issues
    2. Pharmacogenetic patterns of phase I biotransformation
    3. Pharmacogenetic patterns of phase II biotransformation
    4. Pharmacogenetic patterns of drug transport (phase III biotransformation)
    5. Pharmacodynamics and genetic polymorphism
    6. Conclusion
    7. Keywords and concepts
    8. Recommended bibliography
  11. 11Chapter 9. Laboratory diagnostic methods
    1. General issues
    2. Cytogenetic methods
      1. Techniques for mitotic chromosome preparations
      2. Staining of preparations
      3. Molecular cytogenetic techniques
      4. Indications for cytogenetic analyses
    3. Biochemical methods
    4. Techniques of molecular genetics
      1. General procedures
      2. DNA diagnostic methods for hereditary diseases
        1. Direct mutation detection methods
        2. Indirect mutation detection
    5. Keywords and concepts
    6. Recommended bibliography
  12. 12Chapter 10. Guidelines for treatment of hereditary diseases
    1. General issues
    2. Symptomatic treatment
    3. Pathogenetic treatment
      1. Correction of metabolism at the substrate level
      2. Correction of metabolism at the gene product level
      3. Correction of metabolism at the enzyme level
        1. Modification of enzymatic activity
        2. Enzyme compensation therapy
    4. Surgical treatment
    5. Etiotropic treatment: cell and gene therapy
      1. Introduction
      2. Cell therapy
      3. Gene therapy
      4. Transgenic cell therapy
      5. Therapeutic modulation of gene expression
      6. Risks of cellular and gene therapy
    6. Conclusion
    7. Keywords and concepts
    8. Recommended bibliography
  13. 13Chapter 11. Prevention of hereditary pathology
    1. The burden of hereditary pathology in medical in social aspects
    2. Genetic basis for the prevention of hereditary pathology
      1. General provisions
        1. Primary prevention
        2. Secondary prevention
        3. Tertiary prevention
      2. Control of Gene Expression
      3. Elimination of embryos and fetuses with hereditary pathology
      4. Genetic engineering at the germline level
      5. Family planning
      6. Environmental protection
    3. Medical genetic counseling
      1. General provisions
      2. Geneticist responsibilities
        1. Diagnostics
        2. Prognosis for progeny
        3. Conclusion and recommendations for genetic counseling
      3. Organizational issues
      4. Analysis of the intensity of the population’s requests for genetic counseling
      5. The effectiveness of medical genetic counseling
    4. Prenatal diagnostics
      1. General issues
      2. Screening of pregnant women by the determination of biochemical markers (sieving methods)
      3. Invasive methods
      4. Conclusion
    5. Preimplantation diagnostics
    6. Preclinical diagnosis, screening programs and preventive treatment
      1. Phenylketonuria
      2. Congenital hypothyroidism
      3. Congenital adrenal hyperplasia
      4. Galactosemia
      5. Cystic fibrosis
    7. Keywords and concepts
    8. Recommended bibliography
  14. 14Chapter 12. Ethical issues in medical genetics
    1. Recommended bibliography
  15. 15Test questions
    1. To chapter 1
      1. Answers
    2. To chapter 2
      1. Answers
    3. To chapter 3
      1. Answers
    4. To chapter 4
      1. Answers
    5. To chapter 5
      1. Answers
    6. To chapter 6
      1. Answers
    7. To chapter 7
      1. Answers
    8. To chapter 8
      1. Answers
    9. To chapter 9
      1. Answers
    10. To chapter 10
      1. Answers
    11. To chapter 11
      1. Answers
  16. 16Appendix
    1. Glossary of genetic terms
    2. Signs of dysmorphogenesis

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