382 FINAL EXAM STUDY GUIDE questions
and answers with solutions 2025
Genetics - ANSWER The study of *individual genes* and their impact on relatively rare single gene
disorders.
Genomics - ANSWER The study of *mechanisms controlling gene expression* that are *independent* of
the DNA sequence itself.
Epigenetics - ANSWER The study of *all the genes in the human genome together*, including their
interactions with each other, the environment, and the influence of other psychosocial factors and
cultural factors.
What was the main purpose of the Human Genome Project? - ANSWER To *map the human genome* (3
billion base pairs) by 2005. Was completed early in 2003 and under budget.
How will findings from the HGP influence mainstream health care and how you practice nursing? -
ANSWER If you understand the map of the human genome, you can clone the gene. This can lead to:
1) *Diagnostics* --> Preventative medicine or Pharmacogenetics
2) *Gene therapy*
3) Understand *basic biological defect* --> drug therapy
All of these were accelerated by the HGP.
How did the HGP differ from the effort by the private company Celera? - ANSWER *Public:* Human
Genome Project (HGP)
-*International* Consortium of over 1,000 scientists from 4 large centers in the US, as well as centers or
clinics in England, France, Germany, China, and Japan. (Lots of international "team science" and "data
sharing")
-Public had *UNLIMITED* access (also means private company had access to public company's findings)
-Upheld the principle of the heart of the HGP: *"free and unrestricted access to all our genome related
material..."*
-On Feb 15, 2001 the public company published the *first draft of the human genome project.*
, *Private:* Celera Genomics
-Owned & run by Craig Venter
-Public had *LIMITED* access
Karyotype - ANSWER *Pictorial analysis* of the number, form, and size of an individual's chromosomes.
Genotype - ANSWER The entire *genetic makeup* of an individual. Includes all the genes an individual
carries and that can be passed to offspring.
Phenotype - ANSWER The *observable manifestation* of a person's genotype. Determined *genetically*
and environmentally.* This is affected by the nature of the *dominant or recessive allele.*
Why is taking a Family History so important? - ANSWER 1) Taking a family history has become the *most
important* and *least expensive* genetic test of all.
2) Family history reflects the *interaction* of genetics and non-genetic risk factors.
3) If you go through a pedigree with a patient, they are likely to share things that you as a nurse might
feel uncomfortable asking about (e.g., this family member is in jail, these family members don't like each
others...etc.)
*Red Flags* in a Pedigree - ANSWER 1) High number of affected individuals?
2) Greater than 1 generation affected?
3) *Young at age of diagnosis?*
4) Independently arising tumors?
5) *Clustering* of specific tumor types?
6) Unusual presentation? (e.g., Breast Cancer in male)
7) Certain ethnic groups? (e.g., Ashkenazi Jew)
What difference does it make if we can determine which families are at high risk for a genetic disorder? -
ANSWER Recognition of high risk families is important!
If high risk individuals within families can be identified...
1) Appropriate *screening* measures can be instituted *early and performed aggressively.*
and answers with solutions 2025
Genetics - ANSWER The study of *individual genes* and their impact on relatively rare single gene
disorders.
Genomics - ANSWER The study of *mechanisms controlling gene expression* that are *independent* of
the DNA sequence itself.
Epigenetics - ANSWER The study of *all the genes in the human genome together*, including their
interactions with each other, the environment, and the influence of other psychosocial factors and
cultural factors.
What was the main purpose of the Human Genome Project? - ANSWER To *map the human genome* (3
billion base pairs) by 2005. Was completed early in 2003 and under budget.
How will findings from the HGP influence mainstream health care and how you practice nursing? -
ANSWER If you understand the map of the human genome, you can clone the gene. This can lead to:
1) *Diagnostics* --> Preventative medicine or Pharmacogenetics
2) *Gene therapy*
3) Understand *basic biological defect* --> drug therapy
All of these were accelerated by the HGP.
How did the HGP differ from the effort by the private company Celera? - ANSWER *Public:* Human
Genome Project (HGP)
-*International* Consortium of over 1,000 scientists from 4 large centers in the US, as well as centers or
clinics in England, France, Germany, China, and Japan. (Lots of international "team science" and "data
sharing")
-Public had *UNLIMITED* access (also means private company had access to public company's findings)
-Upheld the principle of the heart of the HGP: *"free and unrestricted access to all our genome related
material..."*
-On Feb 15, 2001 the public company published the *first draft of the human genome project.*
, *Private:* Celera Genomics
-Owned & run by Craig Venter
-Public had *LIMITED* access
Karyotype - ANSWER *Pictorial analysis* of the number, form, and size of an individual's chromosomes.
Genotype - ANSWER The entire *genetic makeup* of an individual. Includes all the genes an individual
carries and that can be passed to offspring.
Phenotype - ANSWER The *observable manifestation* of a person's genotype. Determined *genetically*
and environmentally.* This is affected by the nature of the *dominant or recessive allele.*
Why is taking a Family History so important? - ANSWER 1) Taking a family history has become the *most
important* and *least expensive* genetic test of all.
2) Family history reflects the *interaction* of genetics and non-genetic risk factors.
3) If you go through a pedigree with a patient, they are likely to share things that you as a nurse might
feel uncomfortable asking about (e.g., this family member is in jail, these family members don't like each
others...etc.)
*Red Flags* in a Pedigree - ANSWER 1) High number of affected individuals?
2) Greater than 1 generation affected?
3) *Young at age of diagnosis?*
4) Independently arising tumors?
5) *Clustering* of specific tumor types?
6) Unusual presentation? (e.g., Breast Cancer in male)
7) Certain ethnic groups? (e.g., Ashkenazi Jew)
What difference does it make if we can determine which families are at high risk for a genetic disorder? -
ANSWER Recognition of high risk families is important!
If high risk individuals within families can be identified...
1) Appropriate *screening* measures can be instituted *early and performed aggressively.*
