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2014

HEREDITARY DISEASES II. Výukový materiál GE 02 - 5 8 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.

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2014

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  1. 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 2014

  2. 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

  3. 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

  4. gradually > heavy disability of nervous activity • extensive mental disorders, failures of muscular activity • In the end the death of the patient HEREDITARY DISEASES

  5. 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

  6. 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

  7. one extra chromosome: • most common aneuploidia je trisomia of chromosome 21, which causes Down syndrom • so karyotype contains in sum 47 chromosomes HEREDITARY DISEASES

  8. 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

  9. 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

  10. 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

  11. RECOGNIZE THE KARYOTYPES

  12. 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

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