Exam 2 GENETICS

Question 1

Who is Gregor Mendell?

Answer 1

Austrian Monk who worked with peapods to discover how traits are transmitted from parent to child

Question 2

Application?

Answer 2

Impact genetics and genomics have on our work as nurses

Question 3

Genetics

Answer 3

The study of genes and their role in inheritance. Determines how traits are passed down through generations

Question 4

Genomics

Answer 4

The study of all of a person’s genes (genome). This includes interactions among genes and includes the environment.

Question 5

Epigenetics

Answer 5

The study of the chemical modifications of specific genes. (Genetics and environment)

Question 6

Genes

Answer 6

Control how cells function in the body.

Question 7

What do genes make?

Answer 7

Proteins with instructions for cells

Question 8

What are alleles

Answer 8

Codes for traits we get from our parents.

Question 9

Phenotype vs. genotype?

Answer 9

How the physical aspect of the gene is portrayed versus what is actually on the inside genetically.

Question 10

Chromosomes

Answer 10

Located in the nucleus of a cell and are in pairs. Half come from mother and half from father. F- XX, M-XY

Question 11

DNA

Answer 11

Genes are made up of DNA which stores all of our genetic information.

Question 12

What is a genetic mutation?

Answer 12

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.

Question 13

Which two ways do mutations occur?

Answer 13

germline/somatic

Question 14

Germline

Answer 14

inherited from parent

Question 15

Somatic

Answer 15

acquired during lifetime but cannot be passed on to child. (occur during cell division or environmental changes -UV rays/cigarettes)

Question 16

Autosomal Dominant

Answer 16

If the gene mutation is located on the autosome…

Question 17

X-Linked recessive

Answer 17

IF the gene mutation is located on the X-link. (more common in men since they only have one X chromosome)

Question 18

Multifactorial Inherited Condition

Answer 18

Combo of genetic and environmental disorders.

Question 19

Test to analyze chromosomes or genes that can determine predisposition or mutation to a condition.

Answer 19

Genetic testing. (Ex. fibrosis)

Question 20

How are genetic tests done?

Answer 20

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.

Question 21

At home genetic testing.

Answer 21

Expensive and may need more than one test. These can be unreliable and could cause fear…should discuss with PCP for better understanding.

Question 22

GINA

Answer 22

Genetic Information Nondiscrimination Act. Prohibits discrimination in health care coverage and employment based on genetic information….

Question 23

Precision Health

Answer 23

Form of genetic research takes account of people’s genes/lifestyles/environment/background to create a patient specific care plan.

Question 24

What is DNA fingerprinting?

Answer 24

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

Question 25

DNA microarray

Answer 25

What DNA may have a more therapeutic effect (dosage/best medicine) in certain patients.

Question 26

Genome-Wide Assoc. Study

Answer 26

Compares people w/ a disease to similar people without said disease. Helps with prevention for groups/regions.

Question 27

pharmacogenomics

Answer 27

how drugs effect and interact with the entire human genome. Helps providers prescribe the right dosage based off of genetic makeup.

Question 28

pharmacogenetics

Answer 28

study of genetic variability of drug responses related to variety in a single gene.

Question 29

Gene Therapy

Answer 29

Very experimental, only two total approved,

Question 30

Stem cell therapy

Answer 30

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.

Question 31

What is HSCT?

Answer 31

Another form of stem cell therapy...hematopoietic. Used with hematologic cancers.

Question 32

Nurse needs to...

Answer 32

Be aware of diseases with genetic links. Work with HC team. Know family history and implications of testing.

Question 33

Family history and genetic issues.

Answer 33

- 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

Question 34

Implications of genetic testing

Answer 34

+ 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.