2014 HEREDITARY DISEASES II. Výukový materiál GE 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/ 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 SOURCES