Cardiovascular Genetics Flashcards
Epigenetic Factors
Doesn’t change DNA sequence but can change how read DNA sequence
Symptoms of Turner Syndrome
Short stature
Slight webbing of neck
Forward chest
Elbow configuration
What are monogenic conditions?
They are mendelian disorders: dominant, recessive, x-linked
What are examples of monogenic disease?
Sickle cell disorder
Cystic fibrosis- one particular gene altered
What is hypertrophic cardiomyopathy?
Thickened heart muscle, many genes involved
TAAD symptoms (thoracic aortic aneurysm and dissection)
Acute chest pain, tearing nature, radiating to back, thumb signs, arm span: height ration,
Affects the upper part of the aorta, near the heart
Marfan Syndrome symptoms
Flat feet Deep-set eyes High arched palate of roof of mouth Tall and slim with long thin arms and legs Loose and very flexible joints
What is segregation testing?
Testing other affected relatives
What is the difference between diagnostic and predictive testing?
Diagnostic- used to find out if you have a condition associated with symptoms you already have
Predictive-used to search for genetic mutations linked with a condition before you show symptoms
What is a Panel test?
Suite of genes tested together
For heterogenous conditinos
How do you know if likely to be pathogenic?
Is family with disease share same variant, shows likely to be pathogenic
What is a polygenic trait?
One whose phenotype is influenced by more than one gene
Traits that show continuous distribution e.g. height are polygenic
The more polygenic the more it approaches a bell-shaped curve
For any genetic test what are the 3 main outcomes?
Nil found- doesnt mean isnt genetic disorder, just isnt found
A clear pathogenic change- then give predictive test for relative to see if also have inherited risk factor
A variant of uncertain significance
Digenic
2 genes changes
Oliogenic
Several genes changed
