Chapter 3: Nursing and Genomics

Question 1

Differentiate between genomic medicine and precision medicine.

Answer 1

• genomic medicine: using genomic information to guide care
• precision medicine: personalized medicine

Question 2

What were the 3 key findings in the human genome project of 1990?

Answer 2

1. all human beings are 99.9% identical at the DNA level – discourages race/ethnic background differences at DNA level
2. able to map 80% of the human genome sequence to a biological function
3. demonstrated how genes are turned on/off by proteins

Question 3

What was the most important clinical finding of the human genome project?

Answer 3

collecting family hx (through assessment and testing) is the single most cost-effective piece of genetic information

Question 4

What is a euploid cell?

Answer 4

cell containing the correct number of chromosomes (46 total – 23 from each parent; 1 of which is a sex chromosome)

Question 5

What is monosomy?

Answer 5

union between a normal gamete and one that is missing a chromosome

Question 6

What is trisomy?

1 additional fact

Answer 6

extra chromosomes; 47 in most cells

more common the older a woman is during pregnancy; increased risk 35+

Question 7

What are the 3 types of translocation chromosomal abnormalities?

Answer 7

1. balanced: 2 chromosomes exchanged equally
2. unbalanced: part of a chromosome is exchanged
3. robertsonian: part of a chromosome join together, making a large chromosome of mixed material

Question 8

What is a deletion chromosomal abnormality?

Answer 8

loss of chromosome material

Question 9

What is an inversion chromosomal abnormality?

Answer 9

portion of chromosomal material is in incorrect order

Question 10

What are 2 types of sex chromosome abnormalities?

Answer 10

1. Turner syndrome: monosomy X female where the paternal X or Y is lost
   * female appears underdeveloped
   * impaired intelligence
   * dysmorphic features
   * infertility
2. Klinefelter syndrome: trisomy XXY male
   * female appearance
   * taller
   * infertility

Question 11

What is multifactorial inheritance?

Answer 11

anomalies that come from both genetic and environmental factors

Question 12

What is unifactorial inheritance? What are 5 types?

Answer 12

when a single gene or trait controls the disorder
1. autosomal dominant inheritance: only one carrier needed to contribute to gene (ex: achondroplasia, factor V Leiden)
2. autosomal recessive inheritance: both carriers must contribute to gene
3. inborn errors of metabolism – PKU, Tay-Sachs
4. X-linked dominant inheritance
5. X-linked recessive inheritance

Question 13

What are the 3 ways that people acquire gene mutations that lead to cancer?

Answer 13

1. environmental factors
2. acquire by chance
3. inheritance