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Hereditary Diseases: Genetic Disorders and Their Impacts

Explore the world of hereditary diseases, genetically conditioned disorders caused by mutations in genes, such as phenylketonuria, albinism, and cystic fibrosis, understanding their effects, inheritance patterns, and management. Discover the complexities and challenges of these conditions in daily life.

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Hereditary Diseases: Genetic Disorders and Their Impacts

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  1. HEREDITARY DISEASES I. Výukový materiál GE 02 – 57 Tvůrce: Mgr. Šárka Vopěnková Tvůrce anglické verze: ThMgr. Ing. Jiří Foller Projekt: S anglickým jazykem do dalších předmětů Registrační číslo: CZ.1.07/1.1.36/03.0005 Tento projekt je spolufinancován ESF a SR ČR 2014

  2. HEREDITARY DISEASES • genetically conditioned disorders caused by mutations • various range • diverse exposures • mutation of one gene = monogenous • mutated allele is inactive and produces a non-functional protein

  3. HEREDITARY DISEASES • phenylketonuria: • metabolism disorder • enzyme defect • phenylalanine accumulates in the body • by a newborn undetected=> irreversible damage to nerve cells • severe mental retardation

  4. HEREDITARY DISEASES • phenylketonuria: • in the Czech Republic, all newborns are investigated • treatment – proper diet > use of special diet without phenylalanine

  5. HEREDITARY DISEASES • albinism: • lack of an enzyme mediating the synthesis of melanin • albino people usually have: • strikingly pink skin • blond hair • grey-blue iris with reflection red • sight diseases

  6. HEREDITARY DISEASES • cystic fibrosis mucoviscidosis: • serious illness • relatively common • disorder: due to transport of osmotically active ions into the cells in the alveoli large amounts of mucus creates

  7. HEREDITARY DISEASES • cystic fibrosis mucoviscidosis: : • disabled children: • require considerable care • permanent monitoring • they can be suffocated by the created mucus • despite medical care theyusually die at the age of 30

  8. HEREDITARY DISEASES • heredity of diseases is controlled by the Mendel´s laws • phenylketonuria, cystic fibrosis, albinism: • diseases inherited as a recessive feature • affected individual is a recessive homozygote > he/she has both the mutant alleles in the gene • his/her parents are usually healthy heterozygotes

  9. HEREDITARY DISEASES • these people (the so-called. carriers) have a 25% chance that their child will be born with autosomal recessive disease • genes lie on autosomes = autosomally recessive disease

  10. HEREDITARY DISEASES • alkaptonuria: • metabolic disorder • caused by an enzyme defect, involved in the biochemical conversion of the amino acid of tyrosine • unchanged metabolite is stored in tissues and organs • irreversible damage to the joints and spine occurs

  11. DESCRIBE THE PICTURE

  12. KOČÁREK, Eduard. Genetika: obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. 2. vyd. Praha: Scientia, 2008, 211 s. ISBN 978-80-86960-36-4 SOURCES

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