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

RECOGNIZE THE KARYOTYPES

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