Exam 2 GENETICS Flashcards

1
Q

Who is Gregor Mendell?

A

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

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2
Q

Application?

A

Impact genetics and genomics have on our work as nurses

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3
Q

Genetics

A

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

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4
Q

Genomics

A

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

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5
Q

Epigenetics

A

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

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6
Q

Genes

A

Control how cells function in the body.

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7
Q

What do genes make?

A

Proteins with instructions for cells

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8
Q

What are alleles

A

Codes for traits we get from our parents.

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9
Q

Phenotype vs. genotype?

A

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

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10
Q

Chromosomes

A

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

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11
Q

DNA

A

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

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12
Q

What is a genetic mutation?

A

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.

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13
Q

Which two ways do mutations occur?

A

germline/somatic

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14
Q

Germline

A

inherited from parent

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15
Q

Somatic

A

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

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16
Q

Autosomal Dominant

A

If the gene mutation is located on the autosome…

17
Q

X-Linked recessive

A

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

18
Q

Multifactorial Inherited Condition

A

Combo of genetic and environmental disorders.

19
Q

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

A

Genetic testing. (Ex. fibrosis)

20
Q

How are genetic tests done?

A

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.

21
Q

At home genetic testing.

A

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

22
Q

GINA

A

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

23
Q

Precision Health

A

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

24
Q

What is DNA fingerprinting?

A

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

25
Q

DNA microarray

A

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

26
Q

Genome-Wide Assoc. Study

A

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

27
Q

pharmacogenomics

A

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

28
Q

pharmacogenetics

A

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

29
Q

Gene Therapy

A

Very experimental, only two total approved,

30
Q

Stem cell therapy

A

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.

31
Q

What is HSCT?

A

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

32
Q

Nurse needs to…

A

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

33
Q

Family history and genetic issues.

A
  • 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
34
Q

Implications of genetic testing

A

+ 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.