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

SOURCES