Předmět Klinická genetika (DA0108325)

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Materiál	Typ	Datum	Počet stažení

Sylabus

CLINICAL GENETICSClinical GeneticsIndications to genetic testing, targets and methods of genetic testing.Characterization of genetic diseases.The etiology of genetic diseases.Clinical and genetic testing, basic syndromology. The importance of signal symptoms for the differential diagnosis of syndromes. Diagnostic algorithm.Genetic screening.Ethical and legal aspects.Genetics of sensory defects. Hereditary disorders of the senses (sight, hearing, smell) - the most common syndromes vs. nonsyndrome disorders (daltonism, blindness, deafness, anosmia), modes of inheritance, the possibility of DNA analysis of sensory defects.Genetics of mental retardation and autism.Practical exercises - the most common situations in Genetic Counseling Centre.Molecular GeneticsMethods, indications for testing, types of mutations and their effects.Inherited metabolic disorders, population screening, PKU and HPA PharmacogeneticsMultifactorial diseaseAnalysis of genetic principles involved in diseases with multifactorial inheritance, influence of exogenous factors, specific cases of the most common multifactorial diseases, a detailed analysis of type 1 diabetes as a disease model.Reproductive GeneticsGenetic causes of infertility. Meiosis, causes of chromosomal defects. Preimplantation diagnosis.Laboratory testsCytogenetics, indications, types of chromosomal aberrations, mosaicism.Diagnostic options in cytogenetics and practical applications in medicine.Indications for cytogenetic examination, the result of cytogenetic testing, basic methods, classical and molecular cytogenetic G-banding, FISH and its modifications and mFISH mBAND, CGH, array CGH, MLPA.

Literatura

Nussbaum, R. L.: Thompson & Thompson genetics in medicine : 7th ed. Elsevier, 2007 (B),(E)+Connor, J. M.: Essential medical genetics : Wiley-Blackwell, 2011 (e-book)+Harper, P. S.: Practical genetic counselling :6th ed. Oxford University Press, 2004 (B)+Korf, B.: Human genetics : a problem based approach: 2nd Edition, Blackwell Science, 2000+Gelehrter, T. D.: Principles of medical genetics : 2nd ed. Lippincott, Williams & Wilkins, 1998 (B)+Passarge, E.: Color atlas of genetics :3th ed. Thieme Verlag, 2007 (B)+Hoffee, P. A.: Medical molecular genetics :Fence Creek Publishing, 1998 (E)

Garant

prof. MUDr. Milan Macek, DrSc.