Cystic Fibrosis Occurs due to a mutation on what chromosome?
What is Chromosome number 7
100
A visual analysis of the number, form, and size of an individuals chromosomes.
What is Karyotyping?
100
The gene mutation ∆F50 causes between__________ percent of cystic fibrosis cases.
What is 70-75%
100
- A gene that helps to regulate the transport of chloride ions across surfaces of epithelium.
What is the Cystic Fibrosis Trans-membrane regulator gene?
100
This genetic condition where there is an extra chromosome present at chromosome 21.
What is trisomy 21/ Down Syndrome.
200
In order to show signs and symptoms of cystic fibrosis what must be present?
What is a mutated/ defective gene from both mom and dad.
200
Helps to Provide support to the family, research and locate services to help those diagnosed with genetic conditions.
What is the nurses role in the post-counselling process?
200
Codes for 1480 amino acids.
What is the CFTR gene?
200
How would you treat Mark Hofer and his family If you were a nurse well educated in genetic screening?
class discussion
200
-Making sure you have the right patient
- ensuring other health professionals wanting to know patient information are directly involved in the care of the patient.
- Getting patient permission before disclosing information on their genetic condition to other family members.
How can health professionals keep a patient's genetic information safe?
300
A non directive, informed consent process that allows for information regarding the screening process and procedure.
What is pre-counselling?
300
Involves the analysis of human DNA, RNA, chromosomes and proteins to detect any possible abnormalities related to an inherited condition. It can be used to directly examine the makeup of a gene, look at markers relating to the genes that cause genetic conditions, examine proteins of genes and examine chromosomes.
What is Genetic Testing.
300
A genetic condition when the female only has 1 X chromosome. Leading to developmental abnormalities and infertility.
What is turners syndrome?
300
Chorionic villi sampling and amniocentesis.
What are two invasive procedures used for early detection of genetic abnormalities in developing fetuses?
300
This was developed as a result of ethical, legal and social implications of human genome research. It has dealt with issues such as discrimination and stigmatism of genetics, privacy and fairness in the use of genetic information and genetics health care.
What is the human genome project?
400
A pro of genetic testing.
What is
- One will have a better understanding for their risk of disease due to their genetics.
-A disease may be found/ diagnosed at an earlier stage.
-With the research from genetic testing one may be exposed to better treatment options for their disease.
400
An inherited autosomal recessive trait that affects the regulation of chloride and sodium channels on epithelial surfaces.
What is cystic fibrosis?
400
List three cons to genetic testing.
What is
-Genetic testing is not easily available to those living in rural areas and small communities. In order to receive testing travel is usually required.
-Genetic testing can be costly.
-Certain types of genetic testing may not be offered in conservative medical communities.
-Testing process may cause anxiety associated with the results and findings.
-One’s self-perception may change if diagnosed with a genetic disorder. There may be fear of passing down genetic disorder to offspring.
400
To detect or define the risk for disease in low-risk populations and to identify those for whom diagnostic testing may be appropriate.
What is the goal of genetic screening?
400
A variety of stress related reactions may be present such as apathy, denial, anger, hostility, fear, embarrassment, grief and loss of self-esteem.
What is the patient and or families reaction following results of genetic testing?
500
How can nurses and other health care professionals promote procedures, such as genetic testing, to those communities and cultures who may have beliefs against new science and technology? (Ex. Amish, hutterites)
What is Class to discuss this!
500
What are some controversies dealing with genetic testing/ screening.
Discuss with the class.
500
What is a normal disability and who decides that?
Class discussion.
500
In what ways can genetic testing be made more easily available to those living with chronic conditions, who reside in rural/ small communities where access to health may seldom be provided? Should public funding be provided these individuals in order for them to be fully capable of seeking their medical needs?
Class Discussion.
500
Prior to attempting conception should parents be highly advised, by medical professionals, to undergo genetic screening in order to detect possible gene dysfunctions and chromosomal abnormalities that can possibly influence the growth and development of the fetus?