Transcript HEREDITARY DISEASES phenylketonuria

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
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

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
blond
pink skin
hair
grey-blue
sight
iris with reflection red
diseases
HEREDITARY DISEASES
cystic
fibrosis mucoviscidosis:
serious
illness
relatively
disorder:
common
due to transport of
osmotically active ions into the cells
in the alveoli large amounts of mucus
creates
HEREDITARY DISEASES
cystic
fibrosis mucoviscidosis: :
disabled
require
children:
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,
diseases
cystic fibrosis, albinism:
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
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
DESCRIBE
THE PICTURE
SOURCES

KOČÁREK, Eduard. Genetika: obecná genetika a cytogenetika,
molekulární biologie, biotechnologie, genomika. 2. vyd. Praha:
Scientia, 2008, 211 s. ISBN 978-80-86960-36-4