Genetic Disorders Flashcards
Genetics and genes
The study of genes
Locate a ball segment of DNA sequence setting codes of a functional production
Locus
Position of gene on a chromosome
Autosomal dominant vs automaker recessive
For autosomal recessive you need two of the traits to express disorder
Autosomal recessive happens earlier in life while dominant is at a delayed age
Autosomal dominant diseases
Marfan’s disease
Huntington’s disease
Marfan’s disease
Mutation is chromosome 15 which codes for fibrilin
Long thin extremities, effects eyes, cardiovascular/skeletal system
Huntington’s disease
Defect on chromosome 4 causing CAG repeats
Progressive brain damage
Causes jerky movements, wide gait, mood changesX progressive dementia
Autosomal recessive disorders
PKU Tay Sachs disease Cystic fibrosis Sickle cell anemia Thalassemia major
PKU
Elevated levels of phenylalanine (toxic) and inability to have liver enzyme to breakdown
Gradual onset in infants within a few weeks after brain impaired = seizures
Tay Sachs disease
Destruction of nerve cells in brain and spinal cord
Typically seen in Eastern European Jews
Blindness, deafness, inability to swallow,
Cystic fibrosis
Deletion of 3 base pairs causing a sticky mucous in the lungs = can clog
Sickle cell anemia
Mutation of hemoglobin gene = malformed RBC can cause thrombus
Thalassemia major
Less hemoglobin then normal
Deletion of beta globin genes
More common in asians and Africans (alpha)
Beta- Greeks and Italians
Clinked disorders
Hemophilia: ability of blood clot is severely reduced
Congenital multi factorial disorders
Cleft plate:
Causes by teratogens (rubella, anticonvulsants)
Down syndrome
Extra chromosome
