Exam 1 Flashcards
Mendelian inheritance
Patterns of inheritance from organisms that reproduce sexually.
Autosomal- involving the autosomes (first 22 pairs of chromosomes)
Sex-linked- involving either of the 2 sex chromosomes (23rd pair for most ppl)
Autosomal dominant
Mendelian inheritance
Most inherited cancer syndromes, Huntington disease
A gene is altered and passed down in the family throughout every generation. M or F can get but you cannot pass it down unless you have it.
Autosomal recessive
Mendelian inheritance
Cystic fibrosis, spinal muscular atrophy.
Occurs when a child inherits one copy of a mutated gene from each parent.
X-linked recessive
Mendelian inheritance
Duchenne/Becker muscular dystrophy
Typically only affects men because all X chromosomes would need to be mutated
X-linked dominant
Mendelian inheritance
Fabry disease
A single mutation on the X chromosome can affect men or women
Non-mendelian inheritance
Complex disease
Polygenic or multifactorial
Polygenic
Action of many genes interacting with one another- the effect is cumulative, so no one gene is dominant to the others.
Multifactorial
The action of multiple factors, such as two or more genes and the environment, interacting with one another
How common is non-mendelian inheritance?
Very
Virtually all common diseases are polygenic and/or multifactorial
Liability
= Heritability
A measure of how well differences in peoples genes/alleles account for differences in their traits
Jar model
Every begins with a jar filled to different extents with genetic factors.
As people gain experiences and trauma, the jar fills with environmental factors.
You can male the jar bigger by having a supportive environment.
Breast cancer and neoadjuvant chemo
When mendelian genetics and complex disease interact.
The PARP protein repairs broken DNA, preventing cell death in normal individuals.
In chemotherapy, PARP inhibitors prevent this repair and lead to apoptosis of the cancer.
Whether the cancer developed due to inherited HBOC syndrome or non-inherited mutations, PARP inhibitors still target the cells.
Atomoxetine
Treatment of ADHA, primarily metabolized by CYP2D6.
Expression of ADHD phenotype is genetically complex, but the response to atomoxetine is at least partially determined by simple mendelian genetics
Unexpected genetic findings
Can be actionable or non-actionable
Test via WES or WGS
Larger tests increase the chance of getting unexpected results unrelated to testing
Genetic information
Information about an individuals genetic tests, FMH, family genetics, genetic services, genetic information about a fetus
Does HIPAA protect genetic information?
No
GINA
Forbids discrimination on the basis of genetic information when it comes to any aspect of employment
Illegal to harass due to genetic information.
Employers must keep genetic information private and are prohibited from sharing.
Protects access to health insurance
Exceptions to GINA
GINA does not apply to employers with less than 15 employees, members of the US armed service or Indian health service, coverage or life, disability, or long-term care insurance, anyone who is already manifesting symptoms of disease
What is genetic counseling?
The process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to a disease.
What does a GC session look like?
Contracting- why does pt want meeting?
Medical intake, family history, risk assessment, pre-test counseling, throughout the session support counseling
GC training
2 year masters
