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Practical 1 07
- 1. Practical 1 Organization Introduction to clinical genetics and cytogenetics Microscopes
- 3. Organization
- 10. Please fill the sheets on your tables.
- 11. Introduction to clinical genetics and cytogenetics
- 12. Origin of the genetically conditioned disorder DNA RNA protein Phenotype (trait, feature) Change in the DNA sequence, chromosomal aberrations Change in the gene expression, synthesis of abnormal RNA molecule Change of enzyme activity, defects of the cell and tissue structure Change of function and structure of organs, inborn metabolic errors, developmental defects mutation
- 13. Medical examinations of genetic disorders. patient family genealogic examination chromosomes cytogenetic examination DNA molecular biological examination
- 14. The basis of the cytogenetic examination is chromosomal analysis.
- 15. Chromosome short (p-) arm long (q-) arm centromere chromatid telomere telomere repetitive (satellite) sequence DNA repetitive sequence (TTAGGG) n repetitive sequence (TTAGGG) n DNA
- 16. Telomeres of human chromosomes
- 17. Chromosome X chromatid DNA synthesis (replication) DNA chromosome 1 chromatid = 1 DNA molecule
- 18. Types of chromosomes metacentric (mediocentric) submetacentric ( sub mediocentric) acrocentric telocentric satellites (don't confuse with satellite DNA)
- 19. Staining and observation of chromosomes, microscopes
- 20. Task 1: Name all parts of the microscope indicated on the picture . 1 2 4 5 6 3 eyepiece objective lens stag e condenser coarse adjustment fine adjustment
- 21. Stereomicroscope
- 22. Stereomicroscopes equipped with cold light sources
- 23. Measuring of microscopic objects in the optical microscope (eyepiece scale, „micrometer“)
- 24. Objective scale
- 25. Measuring of microscopic objects (blood elements) in the optical microscope
- 27. Giemsa staining (= solid or conventional staining) leucocytes chromosomes
- 30. Task 3 (see the picture of chromosomes): The picture shows human chromosomes stained by the Giemsa method (such called solid staining). A) Which chromosomes you can observe in the picture: one-chromatid or double-chromatid? B) Determine types of chromosomes. C) How much chromosomes are present in a human somatic cell?
- 31. large metacentric small metacentric large acrocentric small acrocentric t he rest – submetacentric chromosomes
- 32. 14 8 10 14 14 + 8 + 14 + 10 = 46 Total number of chromosomes: 46
- 33. Fluorescent microscope Principal of fluorescence: excitation of electron
- 34. Scheme of fluorescent microscope mercury burner filter slide observation
- 36. See you next week!