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!!! N.B. THE LECTURE IS DELIVERED IN CZECH LANGUAGE ONLY!! EXAMINATION POSSIBLE IN CZECH OR ENGLISH. This lecture deals with both theoretical and practical aspects of modern DNA diagnostics. The introductory part explains the basic terminology of human molecular genetics. Individual techniques important for DNA manipulations, DNA cloning and DNA analysis are discussed in detail, and their combination is used for the build-up of the entire method of DNA diagnosis. The most common hereditary diseases are also discussed, together with the role of DNA approach in molecular parasitology, cancer, immune deficiencies, and forensic techniques.
Lectures - in Czech - Last update: Man Petr, RNDr., Ph.D. (21.12.2017)
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Doporučená literatura: Lela Buckingham - Molecular Diagnostics: Fundamentals, Methods & Clinical Applications (F. A. Davis Company) Tom Strachan - Human Molecular Genetics (Wiley-Liss) - Volně přístupná verze @ NCBI Stanislav Rozsypal - Úvod do molekulární biologie I., II. Richard Průša - Základy analytických metod v klinické molekulární biologii John M. Butler - Forensic DNA Typing (Elsevier)
Další vhodné literární zdroje: William B. Coleman - Molecular Diagnostics: For the Clinical Laboratorian (Humana Press) J. Crocker - The Science of Laboratory Diagnosis (John Wiley and Sons) M. Debnath - Molecular Diagnostics Promises and possibilities (Springer) Rob Elles - Molecular Diagnosis of Genetic Diseases (Methods in Molecular Medicine) (Humana Press) Gerrit J. Viljoen - Molecular Diagnostic PCR Handbook (Springer) John M. S. Bartlett - PCR protocols (Methods in Molecular Biology) (Humana Press) Y. M. Dennis Lo - Clinical applications of PCR (Methods in Molecular Biology) (Humana Press) George Patrinos - Molecular Diagnostics (Academic Press) Benjamin Lewin - Genes (Jones & Bartlett Publishers) - Doplňky online Angel Carracedo - Forensic DNA Typing Protocols (Methods in Molecular Biology) (Humana Press)
Webové stránky: Genetic Science Learning Center - Uni Utah Multimediální učebnice DNA diagnostiky Metody molekulární genetiky - UPOL
Odkazy z přednášky: Last update: Man Petr, RNDr., Ph.D. (05.10.2016)
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Písemná zkouška v trvání jedné hodiny. Nutno získat alespoň 50 bodů ze 100. Po písemné části následuje ústní část, která se odehrává zejména formou diskuze nad písemnou částí. Konzultace po domluvě (nejlépe e-mailem) : petr.man @ natur.cuni.cz Last update: Man Petr, RNDr., Ph.D. (01.10.2013)
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Genotype and phenotype. Structure of the eukaryotic chromosome. Expression of genetic information. Construction and screening of genomic and cDNA libraries. Restriction analysis of DNA. Separation of DNA on agarose and polyacrylamide gels. DNA sequencing. Hybridization techniques. Southern and Northern blotting. RFLP, genomic mapping, hybridization in situ, FISH. PCR techniques, ligase-chain reaction. Build-up of a method for DNA testing. Essentials of human genetics. Project HUGO. Monogenic and polygenic heredity, fetal and gene therapies, prenatal and postnatal diagnosis, screening of the whole polulation. Discussion of the most common hereditary diseases. Genetic background in cancer, oncogenes and tumor suppressor genes. Essentials of immunogenetics. Forensic techniques. Legal and ethical aspects of DNA testing.
Last update: Man Petr, RNDr., Ph.D. (21.12.2017)
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