Ecology2 Complete

POLYMORPHISM AND POLYMORPHISM AND VARIABILITYVARIABILITY

PolymorphismPolymorphism

EnvironmentalEnvironmental(induced by changes of environmental factors)(induced by changes of environmental factors)

GeneticGenetic(refers to differences in the DNA sequence)(refers to differences in the DNA sequence)

Environmental polymorphismEnvironmental polymorphism

1000 m

500 m

0 m

Altitude

Genetic polymorphismGenetic polymorphismOccurrence of two ore more different Occurrence of two ore more different genetically conditioned phenotypes in the genetically conditioned phenotypes in the population.population.

POLYMORPHISM x MUTATIONPOLYMORPHISM x MUTATION

Frequency of rare allele is Frequency of rare allele is higher then 0,01higher then 0,01 (i.e. 1%).(i.e. 1%).

1%MUTATION POLYMORPHISM

Manifestation of genetic Manifestation of genetic polymorphismpolymorphism

Phenotypic polymorphism (variable genetically Phenotypic polymorphism (variable genetically

conditioned traits)conditioned traits)

Biochemical (immunological) polymorphism Biochemical (immunological) polymorphism

(differences in protein structure and molecular (differences in protein structure and molecular

weight, in presence of different antigens or blood weight, in presence of different antigens or blood

groups etc.)groups etc.)

Chromosomal polymorphismChromosomal polymorphism

DNA polymorphism (different DNA sequences, DNA polymorphism (different DNA sequences,

different length of certain segments)different length of certain segments)


Phenotypic Phenotypic

polymorphism polymorphism

(variable genetically (variable genetically


example: Pea plant example: Pea plant

(color of flower, shape (color of flower, shape

of seeds, height of of seeds, height of

plant etc.)plant etc.)





(differences in protein structure a molecular (differences in protein structure a molecular

weight, in presence of different antigens, weight, in presence of different antigens,

different blood groups etc.)different blood groups etc.)




Biochemical polymorphismBiochemical polymorphismAllelic forms of enzymes or iAllelic forms of enzymes or isoenzymes soenzymes (e.g. phosphoglucomutase, (e.g. phosphoglucomutase, malatdehydrogenase, acid phosphatase)malatdehydrogenase, acid phosphatase)

Electrophoresis of proteinsElectrophoresis of proteins

1 2 3 4 5 6 7 8 9

a

A

AA AA Aa aa Aa AA Aa aa Aa

ALLELES

Individuals

Immunologic polymorphismImmunologic polymorphism

Histocompatibility antigens (HLA)Histocompatibility antigens (HLA)

Erythrocytal antigensErythrocytal antigens ABOABO MNMN RhRh Lutheran (LuLutheran (Luaa, Lu, Lubb)) Lewis (LeLewis (Leaa, Le, Lebb)) Duffy (FyDuffy (Fyaa, Fy, Fybb)) Kell (K, k)Kell (K, k) Xg (XgXg (Xgaa, Xg), Xg) ……and more othersand more others






weight, in presence of different antigens, blood weight, in presence of different antigens, blood






Different length of p-arms of acrocentric Different length of p-arms of acrocentric

chromosomeschromosomes

Different extent of heterochromatin areasDifferent extent of heterochromatin areas






weight, in presence of different antigens, blood weight, in presence of different antigens, blood





DNA polymorphismDNA polymorphism

Segments of different length Segments of different length

(frequently number of (frequently number of

repeats)repeats)

DNA-fingerprinting, RFLP DNA-fingerprinting, RFLP

etc.etc.

Segments of different DNA Segments of different DNA

sequence sequence

DNA sequencing, DNA sequencing,

hybridization with specific hybridization with specific

probes etc.probes etc.

C T A C G … C T A C A …

Importance of polymorphism studiesImportance of polymorphism studiesPhorensic genetics (paternity tests, identification of persons)Phorensic genetics (paternity tests, identification of persons)

Transplantation (polymorphism of histocompatibility antigens)Transplantation (polymorphism of histocompatibility antigens)

Molecular epidemiology (identification of different pathogenic strains)Molecular epidemiology (identification of different pathogenic strains)

importance in medical microbiology and parasitologyimportance in medical microbiology and parasitology

(identification of sibling species)(identification of sibling species)

Molecular taxonomyMolecular taxonomy

studies of evolution – „molecular clock“studies of evolution – „molecular clock“

Some polymorphisms can express certain disorder under specific conditions (e.g. after Some polymorphisms can express certain disorder under specific conditions (e.g. after

ingestion of certain food or application of certain drug)ingestion of certain food or application of certain drug)

ECOGENETICS ECOGENETICS PHPHARMAARMACCOGENETICSOGENETICS

Each person has different (genetically conditioned) susceptibility to certain Each person has different (genetically conditioned) susceptibility to certain

environmental factor or chemical compound, drug, physical or biological factor.environmental factor or chemical compound, drug, physical or biological factor.

Ecogenetically important polymorfisms Ecogenetically important polymorfisms in human population I.in human population I.

Hemoglobine variants (HbS – homozygotes are affected Hemoglobine variants (HbS – homozygotes are affected with sickle cell anemia, heterozygotes are resistant to with sickle cell anemia, heterozygotes are resistant to malaria infection)malaria infection)

Glucoso-6-dehydrogenase deficiency (hemolytic crisis Glucoso-6-dehydrogenase deficiency (hemolytic crisis after application of certain drugs or ingestion of beans)after application of certain drugs or ingestion of beans)

Different lactase activity (lactose intolerance after Different lactase activity (lactose intolerance after ingestion of milk)ingestion of milk)

Different acetaldehyddehydrogenase (ALDH) activity Different acetaldehyddehydrogenase (ALDH) activity (intolerance to ethanol – increased in some Asiatic (intolerance to ethanol – increased in some Asiatic populations and in South American Indians)populations and in South American Indians)

Alfa 1-antitrypsine (ATT) – protease inhibitor, Alfa 1-antitrypsine (ATT) – protease inhibitor, decreased level leads to severe inflammations of decreased level leads to severe inflammations of respiratory tract, pancreas and liver)respiratory tract, pancreas and liver)

Cytochrome P450-monooxygenase – oxidizes Cytochrome P450-monooxygenase – oxidizes xenobiotics including severe carcinogens and xenobiotics including severe carcinogens and mutagens (a lot of isoenzyme forms with mutagens (a lot of isoenzyme forms with different inducibility had been described)different inducibility had been described)

Arylhydrocarbon hydroxylase (AHH) – converts Arylhydrocarbon hydroxylase (AHH) – converts aromatic hydrocarbons to epoxides (most of aromatic hydrocarbons to epoxides (most of them have carcinogenic effect)them have carcinogenic effect)

Ecogenetically important Ecogenetically important polymorphisms in human population II.polymorphisms in human population II.

Next practicalNext practical

Topic: Genotoxicity and Topic: Genotoxicity and carcinogenicity screeningcarcinogenicity screening

Test in ecology I. (lecture), ecology II. Test in ecology I. (lecture), ecology II. ((= = today's practical)today's practical)

Ecology2 Complete

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