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

13. DESCRIBE THE PICTURE

14. 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