genetic disorders Flashcards
describe what is autosomal recessive disorder
It causes PKU (phenylketonuria), which is caused by a deficiency of an enzyme which is necessary for a proper metabolism
describe what is autosomal dominant disorder
Causes Huntington’s disease, which is inherited disorder which is a rare gene
what causes cystic fibrosis
When a mutant protein is missing an amino acid and cannot fold correctly
what does cystic fibrosis cause
mucus and bacteria build-up which causes damage to the lungs
what are the 4 types of mutations
Inversion
Deletion
Translocation
Duplication
What is non disjunction and what condition does it cause
when the chromosomes fail to separate during meiosis. it produces gametes (baby) with one missing chromosome or one extra chromosome
Kleinfelter’s syndrome.
Down syndrome