Exam 2 GENETICS Flashcards
Who is Gregor Mendell?
Austrian Monk who worked with peapods to discover how traits are transmitted from parent to child
Application?
Impact genetics and genomics have on our work as nurses
Genetics
The study of genes and their role in inheritance. Determines how traits are passed down through generations
Genomics
The study of all of a person’s genes (genome). This includes interactions among genes and includes the environment.
Epigenetics
The study of the chemical modifications of specific genes. (Genetics and environment)
Genes
Control how cells function in the body.
What do genes make?
Proteins with instructions for cells
What are alleles
Codes for traits we get from our parents.
Phenotype vs. genotype?
How the physical aspect of the gene is portrayed versus what is actually on the inside genetically.
Chromosomes
Located in the nucleus of a cell and are in pairs. Half come from mother and half from father. F- XX, M-XY
DNA
Genes are made up of DNA which stores all of our genetic information.
What is a genetic mutation?
Any change to the DNA sequence. Some disease mutations result in the dev. of a disease or increase the risk for disease. Ex: sickle cell.
Which two ways do mutations occur?
germline/somatic
Germline
inherited from parent
Somatic
acquired during lifetime but cannot be passed on to child. (occur during cell division or environmental changes -UV rays/cigarettes)
Autosomal Dominant
If the gene mutation is located on the autosome…
X-Linked recessive
IF the gene mutation is located on the X-link. (more common in men since they only have one X chromosome)
Multifactorial Inherited Condition
Combo of genetic and environmental disorders.
Test to analyze chromosomes or genes that can determine predisposition or mutation to a condition.
Genetic testing. (Ex. fibrosis)
How are genetic tests done?
blood/skin/hair/saliva.
Positive test: change in specific gene or chromosome.
Neg test: no change in specific gene or chromosome buttt test could have missed something.
At home genetic testing.
Expensive and may need more than one test. These can be unreliable and could cause fear…should discuss with PCP for better understanding.
GINA
Genetic Information Nondiscrimination Act. Prohibits discrimination in health care coverage and employment based on genetic information….
Precision Health
Form of genetic research takes account of people’s genes/lifestyles/environment/background to create a patient specific care plan.
What is DNA fingerprinting?
Collects DNA from some bodily source and can then make copies of the DNA in order to do forensic testing/maternity testing/and determining HIV
DNA microarray
What DNA may have a more therapeutic effect (dosage/best medicine) in certain patients.
Genome-Wide Assoc. Study
Compares people w/ a disease to similar people without said disease. Helps with prevention for groups/regions.
pharmacogenomics
how drugs effect and interact with the entire human genome. Helps providers prescribe the right dosage based off of genetic makeup.
pharmacogenetics
study of genetic variability of drug responses related to variety in a single gene.
Gene Therapy
Very experimental, only two total approved,
Stem cell therapy
Discussion of controversy. Can help with severe burns or tissue damage or orthopedic grafting…implant stem cells to regrow certain healthy tissue. The stem cells come from human embryos.
What is HSCT?
Another form of stem cell therapy…hematopoietic. Used with hematologic cancers.
Nurse needs to…
Be aware of diseases with genetic links.
Work with HC team.
Know family history and implications of testing.
Family history and genetic issues.
- Diseases in more than one close relative.
- Diseases that do not usually affect a certain gender.
- Diseases that occur at an earlier age than expected.
- Certain combinations of diseases within a family
Implications of genetic testing
+ results can cause emotional responses.
+ results can be a motivator to alter lifestyle,
+results may indicate other family members who may be at risk.
+ results lead to personal and ethical issues as to whether to share with family members.
+ results provide info that can be used when making decisions about having children.
