2014 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/ Tento projekt je spolufinancován ESF a SR ČR

 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 HEREDITARY DISEASES

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

 phenylketonuria:  in the Czech Republic, all newborns are investigated  treatment – proper diet > use of special diet without phenylalanine 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

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

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

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

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

 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 HEREDITARY DISEASES

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 KOČÁREK, Eduard. Genetika: obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. 2. vyd. Praha: Scientia, 2008, 211 s. ISBN SOURCES