Anglų skaidrės. Genetic disorders. A genetic disorder. What is it? Types of genetic diseases. Single gene/monogenic diseases. Multifactorial/polygenic (complex) diseases. Chromosomal disorders. Mitochondrial diseases. Cystic fibrosis. Down syndrome. Haemophilia. Huntington’s disease. Tay-Sachs disease. Gene therapy.
Mutations in more than one gene Multiple genes in combination with environment Alzheimer, diabetes, obesity, arthritis, etc.
Abnormalities in the structure or number of chromosomes. Easier to observe. Down Syndrome, etc.
Mutations in mitochondrial DNA causes abnormalities, too.
Trisomy of 21 chromosome. Lower-than-average cognitive ability (IQ ~50) Specific appearance Complications, such as heart disease, infertility, neurological problems, etc. Plastic surgery, examination at birth, cognitive development.
Autosomal recessive disorder. Death by the age of four. Deterioration of mental and physical abilities. No cure.