Class 1- Genetics and Intro to Patho

Question 1

What is the difference between a disease and an illness?

Answer 1

an illness is a person’s experience of disease without identifiable cause

Question 2

What is the difference between Incidence and Prevalence?

Answer 2

Incidence- number of new cases during a specific time

Prevalence- total total number of cases at a given time

Question 3

What is Primary Prevention and what is one example?

Answer 3

• prevents occurrence of a disease

- vaccines

Question 4

What is Secondary Prevention and what is one example?

Answer 4

• early detection

- mammograms

Question 5

What is Tertiary Prevention?

Answer 5

prevents deterioration or complication of a person that already has a disease

Question 6

What are Non-Modifiable Risk Factors and what is an example?

Answer 6

can cause or increase risk of disease

- genetics, age, sex, ethnicity

Question 7

What are some examples of Modifiable Risk Factors?

Answer 7

• smoking
• activity
• diet
• stress
• alcohol
• weight
• SDOH

Question 8

What is the difference between extrinsic and intrinsic etiology?

Answer 8

• intrinsic comes from within extrinsic comes from the environment (e.g. water)

Question 9

What does Idiopathic mean?

Answer 9

unknown cause

Question 10

What does Iatrogenic mean?

Answer 10

obtained through interaction with healthcare system (e.g. non-socomial)

Question 11

What does Multifactoral mean?

Answer 11

caused by a number of genes acting together and influenced by other factors

Question 12

What is an Obstruction?

Answer 12

• occurs anywhere with a “tube”

- mechanical (kidney stone) or functional (paralysis)

Question 13

What is a Mutation?

Answer 13

• inherited alteration of genes caused by mutagens

Question 14

What is a Base Pair Substitution?

Answer 14

• one base pair substituted for another

Question 15

What is a Frameshift Mutation?

Answer 15

• addition or deletion of one base pair

Question 16

What is Aneuploidy?

Answer 16

• abnormal number of chromosomes due to non-disjunction (improper splitting in meiosis) causing trisomy or monosomy

Question 17

Describe Turner Syndrome

Answer 17

• only survivable monosomy
• occurs in female (on X chromosome)
• shorter
• heart structural issues
• webbed hands and feet

Question 18

Describe Klinefelter Syndrome

Answer 18

• XXY
• trisomy (47 chromosomes)
• male with female characteristics
• small testes
• reduced hair

Question 19

Describe Down Syndrome

Answer 19

• Trisomy 21
• age of mom is primary risk factor
• characteristic eyes
• longer tongue
• heart defects are common

Question 20

Single gene Disorders

Answer 20

• caused by single gene mutation or defect

Question 21

Describe an Autosomal Recessive Disorder

Answer 21

• requires two recessive genes (both parents must carry the gene)
• 25% of offspring are “normal”, 50% are carriers, and 25% have the disease
• eg. CF

Question 22

Describe an Autosomal Dominant Disorder

Answer 22

• requires one dominant gene

- 50% of offspring have the disease 50% do not

Question 23

Described an X-Linked Disorder

Answer 23

• on X chromosome
• inherited from the mother
• males either inherit the disorder or don’t while females are either carriers or not
• e.g. Hemophilia, Muscular Dystrophy

Question 24

Single gene Disorders

Answer 24

• caused by single gene mutation or defect

Question 25

Describe an Autosomal Recessive Disorder

Answer 25

- requires two recessive genes (both parents must carry the gene) - 25% of offspring are "normal", 50% are carriers, and 25% have the disease - eg. CF

Question 26

Describe an Autosomal Dominant Disorder

Answer 26

- requires one dominant gene - 50% of offspring have the disease 50% do not - e.g. Huntington's Disease