Genetics stuff (probs important 4 exams boi) Flashcards
What is penetrance?
Likelihood of having a disease if you have the gene mutation
Do mendelian disorders have high or low penetrance?
High
Unrelated q but necessary info, what is CURB 65 used for?
Community Acquired Pneumonia mortality
What actually goes on to code from proteins etc…exons or introns?
Exons
SMAD4:p.Met157Thr
What does this mean?
Methionine peptide sequence of SMAD4 at position 157 has mutated to a threonine
What does SMAD4:p.Cys162Ter
or
SMAD4:p.Cys162*
mean?
The cystine in the peptide sequence of SMAD4 at position 162 has mutated to a stop codon
What does
SMAD4:c.471A>T mean?
The adenine in position 471 in the cDNA sequence has mutated to a thymine
What is a cDNA sequence?
Mature mRNA with the introns removed
Are genetic causes of aortic aneurysms dominant or recessive?
Dominant
Mutation in what protein causes Marfan syndrome?
Fibrillin mutation
What aortic problem can patient’s with Marfan’s get?
Ascending Aorta Dilatation
What syndrome is characterized by aortic aneurysms in children?
Loeys-Dietz syndrome
What are some clinical features of Loeys-Dietz syndrome?
Widely spaced eyes White of eyes look blue or grey Wide or split uvula Instability or malformation of neck (aneurysms in aortic root)
What mutations cause Loeys Dietz syndrome?
TBR1
TBR2
What mutations can cause familial hypercholesterolemia?
LDLR
APOB
PCSK9
