mendelian and non-mendelian characteristics Flashcards
what are the characteristics of sickle cell disease
Pain+++
Cold, dehydration, infections
Jaundice, stroke, leg ulcers, eyes, kidneys
African, Mediterranean, Middle-East, Indian
Anaesthetic issues
what is the cause of sickle cell disease
abnormal point mutation gene
what is cystic fibrosis disease
this is a disease caused by the mutation of the gene for the chloride channel in the lungs.
difference between the normal CFTR channel and an abnormal CFTR channel.
mutant CFTR channel does not move chloride ions causing sticky mucus to build up on the outside of the cell.
example of CFTR sequence
there is deletion of certain numbers in the genes coding
what does the term affected mean
being a carrier and those with the disease
chance of being carrier is 2/3 chance of being affected is 1/4