1 / 17

Understanding Hereditary Diseases: An Educational Material

Explore various hereditary diseases including chondrodystrophia, polydactyly, Huntington disease, chromosome aberrations, and more. Learn about genetic influences and their impact on health. Recognize karyotypes to understand genetic disorders deeply.

holahan
Download Presentation

Understanding Hereditary Diseases: An Educational Material

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related