Ecology2 Complete

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Ecology2 Complete

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

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