Genové inženýrství je soubor technik, kterými lze cíleně upravovat genetickou informaci.Tyto metody se zdají být uměle vytvořené, ale ve skutečnosti jsou přírodou hojně používané. Co všechno jsme od virů, bakterií i našich buněk odkoukali a k čemu nám to může sloužit?
Přednáška Cystická fibróza a trombofilní mutace, kterou jsem přednesl v rámci povinně volitelného předmětu Reprodukční medicína a reprodukční genetika na 2. lékařské fakultě UK v Praze dne 21. dubna 2011.
Vzestup a pád genové terapie (Josef "Faskal" Novák)Maelström
Genová terapie byla ve svých počátcích vnímána jako zázračná léčba, kterou lze vyléčit všechny neduhy. Při úvodních experimentech však došlo k řadě neštěstí, a byla dlouho vnímána jako špatná cesta. Může znovu vstát z popela? Jaká jsou rizika, naděje a co se doteď povedlo na poli genové terapie?
Leukocytární esteráza je enzym obsažený v leukocytech. Rozpadem leukocytů se enzym uvolňuje do okolního postředí. Stanovením přítomnosti leukocytární esterázy v kloubním výpotku lze s vysokou senzitivitou i specificitou diagnostikovat infekční etiologii výpotku.
This document provides an overview of the key concepts and theories of evolution, including:
1. Evolution is defined as the gradual change in species over generations through natural selection acting on genetic variations.
2. There are two types of evolution - microevolution involving short-term changes and macroevolution involving large changes over long periods of time through fossil history.
3. Early theories of evolution included Lamarck's theory of the inheritance of acquired characteristics and Cuvier's catastrophism theory involving sudden extinctions and repopulation.
4. Darwin developed the theory of natural selection, where heritable traits better suited to the environment tend to be preferentially passed on, leading to evolution of species over generations.
The chromosomal finding was triploidy 69,XXY. Triploidy occurs when a fetus has three full sets of chromosomes instead of the normal two and results in lethality during prenatal development. Numerical chromosomal abnormalities include polyploidy, aneuploidy, and nullisomy/disomy in gametes which can cause conditions like Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X), and Klinefelter syndrome (47,XXY).
The document provides information about meiosis and gametogenesis:
1) It explains the stages of meiosis including prophase I, metaphase I, anaphase I etc. and discusses genetic recombination through crossing over.
2) It discusses sex determination and gives examples of sex chromosome abnormalities.
3) It compares spermatogenesis and oogenesis, noting their differences in producing haploid gametes.
The document summarizes an experiment observing cells at various stages of the cell cycle and mitosis using microscopy. It includes tasks examining mouse bone marrow cells to identify chromosomes and phases of mitosis in onion root tip cells. The results show mouse cells have 40 chromosomes, mostly telocentric, and counts of onion root tip cells in different mitotic phases are unequal with most in prophase. The document also provides background information on techniques like fluorescence activated cell sorting used in the experiments.
Genové inženýrství je soubor technik, kterými lze cíleně upravovat genetickou informaci.Tyto metody se zdají být uměle vytvořené, ale ve skutečnosti jsou přírodou hojně používané. Co všechno jsme od virů, bakterií i našich buněk odkoukali a k čemu nám to může sloužit?
Přednáška Cystická fibróza a trombofilní mutace, kterou jsem přednesl v rámci povinně volitelného předmětu Reprodukční medicína a reprodukční genetika na 2. lékařské fakultě UK v Praze dne 21. dubna 2011.
Vzestup a pád genové terapie (Josef "Faskal" Novák)Maelström
Genová terapie byla ve svých počátcích vnímána jako zázračná léčba, kterou lze vyléčit všechny neduhy. Při úvodních experimentech však došlo k řadě neštěstí, a byla dlouho vnímána jako špatná cesta. Může znovu vstát z popela? Jaká jsou rizika, naděje a co se doteď povedlo na poli genové terapie?
Leukocytární esteráza je enzym obsažený v leukocytech. Rozpadem leukocytů se enzym uvolňuje do okolního postředí. Stanovením přítomnosti leukocytární esterázy v kloubním výpotku lze s vysokou senzitivitou i specificitou diagnostikovat infekční etiologii výpotku.
This document provides an overview of the key concepts and theories of evolution, including:
1. Evolution is defined as the gradual change in species over generations through natural selection acting on genetic variations.
2. There are two types of evolution - microevolution involving short-term changes and macroevolution involving large changes over long periods of time through fossil history.
3. Early theories of evolution included Lamarck's theory of the inheritance of acquired characteristics and Cuvier's catastrophism theory involving sudden extinctions and repopulation.
4. Darwin developed the theory of natural selection, where heritable traits better suited to the environment tend to be preferentially passed on, leading to evolution of species over generations.
The chromosomal finding was triploidy 69,XXY. Triploidy occurs when a fetus has three full sets of chromosomes instead of the normal two and results in lethality during prenatal development. Numerical chromosomal abnormalities include polyploidy, aneuploidy, and nullisomy/disomy in gametes which can cause conditions like Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X), and Klinefelter syndrome (47,XXY).
The document provides information about meiosis and gametogenesis:
1) It explains the stages of meiosis including prophase I, metaphase I, anaphase I etc. and discusses genetic recombination through crossing over.
2) It discusses sex determination and gives examples of sex chromosome abnormalities.
3) It compares spermatogenesis and oogenesis, noting their differences in producing haploid gametes.
The document summarizes an experiment observing cells at various stages of the cell cycle and mitosis using microscopy. It includes tasks examining mouse bone marrow cells to identify chromosomes and phases of mitosis in onion root tip cells. The results show mouse cells have 40 chromosomes, mostly telocentric, and counts of onion root tip cells in different mitotic phases are unequal with most in prophase. The document also provides background information on techniques like fluorescence activated cell sorting used in the experiments.
The document discusses mutagenicity and carcinogenicity of environmental factors. It defines key terms like mutagen, mutagenicity, carcinogen and carcinogenicity. It describes various types of mutagens and carcinogens. It also summarizes different methods to test for mutagenicity and carcinogenicity, including tests on the molecular, gene and chromosomal level like the Ames test, comet assay and micronucleus test. The document provides an overview of the process of carcinogenesis and challenges in evaluating human carcinogenicity.
1. Ecology is the study of the relationships between living things and their environment. It includes the relationships between species as well as their interactions with abiotic environmental factors.
2. There are several subfields of ecology including plant ecology, animal ecology, microbial ecology, and environmental science which focuses on environmental protection.
3. Ecology is applied in various medical fields to understand the genetic and environmental causes of diseases and their transmission. Key ecological concepts like populations, ecosystems, food webs, and interspecific relationships are important in medicine.
The document provides an overview of Down syndrome, including its history, types, physical characteristics, diagnosis, informing parents, and caring for an affected child. It discusses John Langdon Down's initial description in 1866 and the recognition as a genetic disorder in 1959. It covers the three types of trisomy 21, translocation, and mosaicism. Key physical signs include a flat face, slanted eyes, small ears and hands/feet. Parents should be informed clearly using understandable language and focusing on positive aspects while avoiding strict prognosis. Acceptance, stimulation, social integration and support are important for caring for a child with Down syndrome.
This document discusses various chromosomal abnormalities including nondisjunction of sex chromosomes during spermatogenesis resulting in Klinefelter syndrome (XXY) or XYY syndrome. It also describes structural abnormalities such as deletions and translocations seen in conditions like Cri du chat syndrome, Down syndrome, and fragile X syndrome. The karyotypes and chromosomal findings for each case are provided.
This document provides information about various prenatal and postnatal cytogenetic examinations used to detect chromosomal abnormalities:
1. Prenatal examinations include chorionic villi sampling, amniocentesis, and cordocentesis to obtain fetal tissue for chromosomal analysis between 11-24 weeks of pregnancy. Ultrasound can detect increased nuchal translucency and biochemical tests measure fetal protein levels.
2. Postnatal examinations analyze chromosomes from peripheral blood, skin, bone marrow or other tissues from individuals being tested for possible chromosomal causes of developmental issues, infertility or tumors.
3. The karyotyping process cultures lymphocytes to grow and arrest in metaphase for chromosome staining, imaging and analysis
The document discusses different types of cell cultures, including primary cultures derived from animal tissue, continuous cultures comprised of cell lines, and normal diploid cells with a finite lifespan. It describes common cell lines used in research, including HeLa cells from cervical carcinoma and CHO cells from hamster ovary. The key components of maintaining cell cultures are discussed, such as temperature, atmosphere, sterile conditions, culture medium, and growth equipment. Tasks demonstrate observing cell morphology, quantifying cell density using a hemocytometer, and counting chromosomes in CHO cells, which are shown to have an aneuploid number due to long-term cultivation.
1. The document provides information about an introduction to clinical genetics and cytogenetics practical organized by the Institute of Biology and Medical Genetics.
2. It outlines the requirements to obtain credit for the practical, including a minimum of 80% on tests, attendance at all sessions, and the potential to earn up to 5 extra points for an oral presentation.
3. The document describes different types of microscopes used in cytogenetics, including stereomicroscopes and fluorescent microscopes, and techniques for staining and observing chromosomes, such as Giemsa staining.
This document discusses various topics related to human evolution, including:
1) Relative and absolute dating methods are used to date fossils, including radiometric dating which relies on the decay of radioactive isotopes.
2) Mass extinctions occurred throughout history, including one at the K-T boundary 66 million years ago likely caused by an asteroid impact.
3) Early hominins like Australopithecus gradually evolved and began walking upright between 3-5 million years ago, followed by species like Homo habilis, Homo erectus, and Homo heidelbergensis.
The document summarizes key aspects of evolution including:
- Evolution is the gradual change in species over long periods of time through processes like natural selection and genetic variation.
- Important early evolution theorists included Lamarck who proposed acquired traits could be inherited, and Darwin who developed the theory of evolution by natural selection through his observations of finches in the Galapagos Islands.
- The modern synthesis combines Darwin's theory of natural selection with genetics to explain evolution as the interplay between genetic variation and selection, though some challenges have emerged like neutral mutations and punctuated equilibrium.
The document discusses genetic and environmental polymorphism, which refers to differences in DNA sequences or phenotypes induced by environmental factors. It provides examples of various types of genetic polymorphism, including phenotypic, biochemical, immunological, chromosomal, and DNA polymorphisms. The manifestation of these polymorphisms can include variations in traits, proteins, antigens, blood groups, length of chromosomes, and DNA sequences. The importance of polymorphism studies is also highlighted for applications like forensics, transplantation, epidemiology, taxonomy, and understanding susceptibility to environmental factors and drugs.
7. Studenti nesplňující některou z uvedených podmínek pro připuštění k závěrečné zkoušce budou ústně přezkoušeni v závěrečném praktiku, případně (po předchozí dohodě s vedoucím praktika) v jiném termínu.
13. Jak vzniká geneticky podmíněné onemocnění? DNA RNA protein znak, resp. fenotypový projev Změna sekvence DNA, změna struktury a počtu chromozomů Změna genové exprese, vznik RNA o chybné sekvenci Změna enzymové aktivity, poruchy stavby buněk a tkání Změna stavby a funkce orgánů, poruchy metabolismu, poruchy vývoje mutace
14. Jak geneticky podmíněná onemocnění vyšetřujeme? pacient rodina genealogické vyšetření chromozomy cytogenetické vyšetření DNA molekulárně-biologické vyšetření
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