EXAMPLE: A dominant form of deafness: FF or Ff individuals can show mild, moderate or
profound deafness
Example of penetrance - answer✔Probability that a disease phenotype will appear when a
disease-related genotype is present. It is an all-or-none expression of a single gene.
Camptodactyly - answer✔Stiff, permanently bent little fingers (autosomal dominant)
Gene expression - answer✔.many factors can effect
. there are genotypes from which the phenotype is not easily predicted, because of gene-gene
interaction and gene-environment interaction
EXAMPLES: temperature and age
Genes - answer✔give consistent and regular patterns of expression
Pleiotropy - answer✔.The appearance of several apparently unrelated phenotypic effects caused
by a single gene.
.Refers to a Mendelian disorder with several symptoms
.Affected individuals express variable subsets of symptoms.
.Usually means that a gene is involved in multiple processes.
Pleiotropy example - answer✔Marfan's Syndrome .Has a high degree of variable expressivity
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller Brainbarter. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for £8.63. You're not tied to anything after your purchase.
