Inherited diseases Flashcards
How are diseases like Huntington’s and cystic fibrosis caused?
Huntington’s is caused by just one allele of this gene being present in a person, this is because it is a dominant allele. Cystic fibrosis requires a person to have both their alleles as this allele of the gene, as it is recessive.
What are the symptoms of Huntington’s and cystic fibrosis respectively?
Huntington’s disease appears later on in life and causes tremors, clumsiness, memory loss and inability to concentrate.
Cystic fibrosis causes thick mucus, difficulty breathing, chest infections and trouble digesting
How can diseases be passed on?
Inherited diseases can be passed on if the parent has the disease but also if the person only has one recessive allele in the pair for the disease, they are then a carrier.
When is genetic testing used?
Testing embryos for embryo selection.
Predictive testing for genetic diseases.
Testing an individual before prescribing drugs.
What are the risks and implications of testing pregnant women for alleles causing genetic diseases?
Risk of miscarriage as a result of cell sampling.
False positive/ negative.
Need to consider whether or not to have children.
Whether or not pregnancy needs to be terminated.
Whether or not family members should be told.
