Unit 1 Module 4: Cellular Function Flashcards
genetics or genomics: The study of individual genes, which are typically passed on in a Mendelian pattern.
genetics
Genetics in the study of individual genes. Genomics is the study of the whole genome and how it interacts with the environment.
genetics or genomics: The study of the entire genetic makeup and how it interacts with the environment and stressors on the body.
genomics
Genetics in the study of individual genes. Genomics is the study of the whole genome and how it interacts with the environment.
genetics or genomics: An example of a condition affected by _____ is Cystic Fibrosis
genetics
Genetics in the study of individual genes. Genomics is the study of the whole genome and how it interacts with the environment.
genetics or genomics: An example of this is the identification of a number of genes that may be implicated in Alzheimer’s disease.
genomics
Genetics in the study of individual genes. Genomics is the study of the whole genome and how it interacts with the environment.
t/f Every human’s genome is 90% similar to another human being
false: The genome of very human is 99.9% identical
SNP
single nucleotide polymorphism: a single base pair difference relative to most of the population
There is a difference in a base pair between two individuals, what does this mean?
This is a SNP and can be related to a disease, a difference in physical appearance or make no difference at all.
How is a GWAS conducted?
Genome Wide Association Study: Two groups of individuals are studied, those with a disease and those without. The genome of both are compared looking for SNPs. This points researchers in the direction of the part of the genome that may be responsible for diseases.
t/f: Epigenetics means we have now discovered that there is a way to change our own DNA make-up. Ex: we can make a base pair a C instead of an A.
false
Epigenetics does not mean that the DNA changes, but the expression changes. Epigenetics has to do with the turning on and turning off of genes by the addition of methyl groups.
in epigenetics, methyl groups are like a
[ switch/knob/hardware/software ]
switch
in epigenetics, histones are like a
[ switch/knob/hardware/software ]
knob, fine tuning changes
controls how tightly wound the DNA is
in epigenetics, DNA is like
[ switch/knob/hardware/software ]
hardware
epigenetics are like
[ switch/knob/hardware/software ]
software
tells the hardware what to do
t/f: Epigenetic changes are most susceptible to change during times of growth such as puberty or during pregnancy.
true
t/f: Epigenetic changes can change over a person’s lifetime.
true
t/f: Epigenetic changes can be passed (inherited) from one generation to another.
true
t/f: Your own epigenetics was influenced by the environment of your grandmother.
true
In a pedigree chart, how are males represented?
square (females are circle, unknown gender diamond)
In a pedigree chart, what does the arrow pointing to a symbol indicate?
the proband
What are the main categories of genetic red flags?
- multiple affected family members with same or related disorders
- early age at onset of disease than expected
- disorder in less common sex
- disease in absence of known risk factors
- certain ethnic groups
- consanguinity
Two major components of CRISPR
Guide RNA and CAS 9 protein
Benefits of CRISPR vs. other gene editing tools
cheap, efficient, customizable
Which topic, studied in the genomics module, allows one to understand that we can influence the expression of genes through turning them on or off through the additional of methyl groups?
epigenetics
What impact does the knowledge of SNPs have for nurses and the future of healthcare?
Understanding the connection with mutations in one SNP or a collection of SNPs and the connection with diseases will help us identify patients at risk for disease, but we also understand that environment plays a role in whether the individual will develop the disease.
Understanding epigenetics, how will this potentially influence individuals?
Individuals can change their epigenome by manipulating diet, exercise, psychological stressors and other environmental influences.
[And it means structural and political changes are more important for overall health!!!!!]
t/f: smoking could have an influence on our epigenome
true
t/f: malnutrition could have an influence on our epigenome
true
t/f: traumatic event during puberty could have an influence on our epigenome
true
t/f: alcohol use syndrome could have an influence on our epigenome
true
t/f: intake of only organic food could have an influence on our epigenome
true
t/f: vegan diet could have an influence on our epigenome
true
t/f: marathon running could have an influence on our epigenome
true
The nurse is reviewing a chart that has a pedigree chart included in the patient history (double horizontal line). There is an indication on the chart that the patient and her husband are consanguineous. What does this mean?
the pt and her husband are related
Is this a genetic red flag? A patient who was diagnosed with dementia at the age of 50 years old.
yes - earlier onset than expected
Is this a genetic red flag? Sudden cardiac death in an 80-year-old with a history of coronary artery disease.
No, normal and expected d/t age and medical history
Is this a genetic red flag? New breast cancer diagnosis in an individual whose step mother also has breast cancer.
No
No blood relation
Diagnosis of Type II diabetes in a 45-year-old male.
Yes, significant under 50 years old
