Chapter 8 - Genetic Disorders Flashcards
What are three examples of genetic disorders?
- cystic fibrosis
- polydactyly
- sickle-cell anaemia
what are symptoms of cystic fibrosis?
thick sticky mucus (clogs)
persistant coughing and wheezing
what is the treatment for cystic fibrosis?
organ transplants e.g. liver, lungs, kidneys, pancreas, etc
daily regime of drugs/pills
physiotherapy
what is cystic fibrosis?
an inherited disease which effects cell membranes
what causes cystic fibrosis?
a recessive gene (from both parents) - defect in the CFTR gene which makes a protein and controls salt and water movement in and out of cells
what are the effects of cystic fibrosis?
different for everyone but breathlessness, men mostly infertile
how can you find cystic fibrosis?
genetic test of blood or sample from mother’s womb before birth
what is polydactyly?
an inherited condition where you are born with an extra digit
what causes polydactyly?
a dominant gene (just one parent)
what are the effects of polydactyly?
impacts day-to-day life and activities but can be removed usually when under a year old
what is sickle-cell anaemia?
cells block blood flow through vessels to chest, joints, bones and abdomen
what are the symtoms of sickle-cell anaemia?
episodes of pain
what is the treatment for sickle-cell anaemia?
bone marrow transplant
what are the disadvantages of a bone marrow transplant?
only a potential cure
difficult to find a donor
associated with serious risks
what causes sickle-cell anaemia?
a faulty recessive gene (from both parents) which results in a mutation of the haemoglobin gene which distorts red blood cells
