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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.1.07/1.1.36/03.0005
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
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 diseasegenes lie on autosomes = autosomally recessive disease
alkaptonuria:metabolic disordercaused by an enzyme defect, involved in the biochemical conversion of the amino acid of tyrosineunchanged metabolite is stored in tissues and organsirreversible damage to the joints and spine occurs
HEREDITARY DISEASES
DESCRIBE THE PICTURE
KOČÁREK, Eduard. Genetika: obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. 2. vyd. Praha: Scientia, 2008, 211 s. ISBN 978-80-86960-36-4
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