2014
HEREDITARY DISEASES II.
Výukový materiál GE 02 - 58
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
Autosomal dominant diseases chondrodystrophia, achondroplasia genetically conditioned disorder of the bone
tissue development remarkable short dwarf stature > disproportional
dwarfness patients reach the growth on avarage 125 cm in
their adult age disabled parents have 50% probability that their
child will be disabled in the same way
HEREDITARY DISEASES
polydactyly: occurence of supernumerary fingers or
toes Huntington disease: it usually develops after the age 30 – 40
years in the beginning – disorders in movement
coordination and involuntary movement
HEREDITARY DISEASES
gradually > heavy disability of nervous activity
extensive mental disorders, failures of muscular activity
In the end the death of the patient
HEREDITARY DISEASES
civilisation diseases have genetic base illnesses have polygenic base >
multifactor conditioned genetic influences + external
environment diabetes tumor diseases cardio-vascular diseases cleft disorders (lip, spine)
HEREDITARY DISEASES
chromosome aberration each chromosome has on average 1000
genes and more loss or presence of supernumerary
chromosome leads to very significant disorders
chromosome aberrations cause more than 100 diseases
HEREDITARY DISEASES
one extra chromosome: most common aneuploidia je trisomia
of chromosome 21, which causes Down syndrom
so karyotype contains in sum 47 chromosomes
HEREDITARY DISEASES
features of diseases: distinctive face oblique or mongoloid direction of eye
aperture remarkably broad nose permanently ajar mouth noticeably big tongue mental retardation heart failures are common
HEREDITARY DISEASES
monosomia > lack of one chromosome karyotype of the pacient contains 45 chromosomes Turner syndrom : there are 22 pairs of autosomes in cells and only
one chromosome X , absence of the other gonosome
monosomia of chromosome X disabled individuals are entirely women they are sterile a short stature they suffer from congenital heart failure
HEREDITARY DISEASES
Klinefelter syndrome: entirely male patients noticeably small testes enlarged mammary glands mostly sterile in karyotype there are two gonosomes X
and one gonosome Y total chromosome number is 47
HEREDITARY DISEASES