Ecology2 Complete

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  • 1. POLYMORPHISM AND VARIABILITY
  • 2. Polymorphism
    • Environmental
      • (induced by changes of environmental factors)
    • Genetic
      • (refers to differences in the DNA sequence)
  • 3. Environmental polymorphism 1000 m 500 m 0 m Altitude
  • 4. Genetic polymorphism
    • Occurrence of two ore more different genetically conditioned phenotypes in the population.
    • POLYMORPHISM x MUTATION
    • Frequency of rare allele is higher then 0,01 (i.e. 1%).
    1% MUTATION POLYMORPHISM
  • 5. Manifestation of genetic polymorphism
    • Phenotypic polymorphism (variable genetically conditioned traits)
    • Biochemical (immunological) polymorphism (differences in protein structure and molecular weight, in presence of different antigens or blood groups etc.)
    • Chromosomal polymorphism
    • DNA polymorphism (different DNA sequences, different length of certain segments)
  • 6. Manifestation of genetic polymorphism
    • Phenotypic polymorphism (variable genetically conditioned traits)
      • example: Pea plant (color of flower, shape of seeds, height of plant etc.)
  • 7. Manifestation of genetic polymorphism
    • Phenotypic polymorphism (variable genetically conditioned traits)
    • Biochemical (immunological) polymorphism (differences in protein structure a molecular weight, in presence of different antigens, different blood groups etc.)
    • Chromosomal polymorphism
    • DNA polymorphism (different DNA sequences, different length of certain segments)
  • 8. Biochemical polymorphism
    • Allelic forms of enzymes or i soenzymes (e.g. phosphoglucomutase, malatdehydrogenase, acid phosphatase)
          • Electrophoresis of proteins
    Individuals 1 2 3 4 5 6 7 8 9 a A AA AA Aa aa Aa AA Aa aa Aa ALLELES
  • 9. Immunologic polymorphism
    • Histocompatibility antigens (HLA)
    • Erythrocytal antigens
      • ABO
      • MN
      • Rh
      • Lutheran (Lu a , Lu b )
      • Lewis (Le a , Le b )
      • Duffy (Fy a , Fy b )
      • Kell (K, k)
      • Xg (Xg a , Xg)
      • … and more others
  • 10. Manifestation of genetic polymorphism
    • Phenotypic polymorphism (variable genetically conditioned traits)
    • Biochemical (immunological) polymorphism (differences in protein structure a molecular weight, in presence of different antigens, blood groups etc.)
    • Chromosomal polymorphism
    • DNA polymorphism (different DNA sequences, different length of certain segments)
  • 11. Chromosomal polymorphism
    • Different length of p-arms of acrocentric chromosomes
    • Different extent of heterochromatin areas
  • 12. Manifestation of genetic polymorphism
    • Phenotypic polymorphism (variable genetically conditioned traits)
    • Biochemical (immunological) polymorphism (differences in protein structure a molecular weight, in presence of different antigens, blood groups etc.)
    • Chromosomal polymorphism
    • DNA polymorphism (different DNA sequences, different length of certain segments)
  • 13. DNA polymorphism
    • Segments of different length (frequently number of repeats)
      • DNA-fingerprinting, RFLP etc.
    • Segments of different DNA sequence
      • DNA sequencing, hybridization with specific probes etc.
    C T A C G … C T A C A …
  • 14. Importance of polymorphism studies
    • Phorensic genetics (paternity tests, identification of persons)
    • Transplantation (polymorphism of histocompatibility antigens)
    • Molecular epidemiology (identification of different pathogenic strains)
    • importance in medical microbiology and parasitology (identification of sibling species)
    • Molecular taxonomy
    • studies of evolution – „molecular clock“
    • Some polymorphisms can express certain disorder under specific conditions (e.g. after ingestion of certain food or application of certain drug)
    • ECOGENETICS PH ARMA C OGENETICS
    • Each person has different (genetically conditioned) susceptibility to certain environmental factor or chemical compound, drug, physical or biological factor.
  • 15. Ecogenetically important polymorfisms in human population I.
    • Hemoglobine variants (HbS – homozygotes are affected with sickle cell anemia, heterozygotes are resistant to malaria infection)
    • Glucoso-6-dehydrogenase deficiency (hemolytic crisis after application of certain drugs or ingestion of beans)
    • Different lactase activity (lactose intolerance after ingestion of milk)
    • Different acetaldehyddehydrogenase (ALDH) activity (intolerance to ethanol – increased in some Asiatic populations and in South American Indians)
  • 16.
    • Alfa 1-antitrypsine (ATT) – protease inhibitor, decreased level leads to severe inflammations of respiratory tract, pancreas and liver)
    • Cytochrome P450-monooxygenase – oxidizes xenobiotics including severe carcinogens and mutagens (a lot of isoenzyme forms with different inducibility had been described)
    • Arylhydrocarbon hydroxylase (AHH) – converts aromatic hydrocarbons to epoxides (most of them have carcinogenic effect)
    Ecogenetically important polymorphisms in human population II.
  • 17. Next practical
    • Topic: Genotoxicity and carcinogenicity screening
    • Test in ecology I. (lecture), ecology II. ( = today's practical)