Structure and Function

Question 1

Pathology

Answer 1

Changes in the body caused by disease

Question 2

Physiology

Answer 2

How the body functions in health

Question 3

Etiology

Answer 3

Causes of a disease

Question 4

Multifactorial

Answer 4

1 or more etiological factors contributing to a disease

Question 5

Risk factors

Answer 5

Conditions that contribute to development of disease

Question 6

Pathogenesis

Answer 6

Events at the molecular, cellular, and tissue level that occur during disease

Question 7

Natural history

Answer 7

Course of a disease in absence of medical intervention

Question 8

Signs

Answer 8

Objective manifestations of a disease that can be observed

Question 9

Symptoms

Answer 9

Subjective complaints of patient

Question 10

Primary prevention

Answer 10

Reduce risks before disease occurs

Question 11

Secondary prevention

Answer 11

Detection of potential for disease

Question 12

Tertiary prevention

Answer 12

Goal is to prevent disease from proceeding

Question 13

Gene

Answer 13

Segment of DNA that codes for protein

Question 14

Intergenic regions

Answer 14

Lie between genes and have no known function

Question 15

Exon

Answer 15

Parts of a gene that actually encode for protein

Question 16

Intron

Answer 16

Parts of gene that get removed before translation thru RNA splicing

Question 17

Promoter region

Answer 17

Initiates transcription of a particular gene

Question 18

Transcription factors

Answer 18

Small proteins that regulate transcription

Question 19

Point mutation

Answer 19

Single nucleotide base change

Question 20

Missense mutation (point)

Answer 20

Change of a single base pair, which causes the substitution of a different AA; this may have no effect or render the protein nonfunctional

Question 21

Nonsense mutation (point)

Answer 21

Creates premature “stop” codon shortening the chain; may become ineffective

Question 22

Silent mutation (point)

Answer 22

Doesn’t cause change because old and new codon code for the same AA

Question 23

Insertion/Deletion mutation

Answer 23

Addition or removal of one or more letter that causes a frame shift and creates a completely different AA

Question 24

Huntington’s Disease mutation type

Answer 24

Insertion mutation involving glutamine sequences

Question 25

Huntington's Disease inheritance

Answer 25

Autosomal dominant: only need one copy of altered gene on any of 22 autosomes

Question 26

Sickle cell mutation type

Answer 26

Missense mutation: substitute glutamic acid for valine

Question 27

Sickle cell inheritance

Answer 27

Autosomal recessive: Need 2 copies of altered gene for mutation

Question 28

Hemophilia A mutation type

Answer 28

Missense mutation

Question 29

Hemophilia A inheritance

Answer 29

Sex-linked: gene for factor VIII is on X chromosome, so men are more susceptible because they only have one X chromosome

Question 30

Genetic variability (polymorphism)

Answer 30

Presence of different forms of DNA sequence; Ex blood type

Question 31

Single nucleotide polymorphism

Answer 31

Point mutation that increase likelihood of developing a disease; Ex. Alzheimer's

Question 32

Genetic penetrance

Answer 32

Proportion of individuals with mutation who exhibit clinical symptoms

Question 33

Incomplete penetrance

Answer 33

When not everyone with the phenotype presents with the disease; Ex. hereditary pancreatitis

Question 34

Epigenetics

Answer 34

Change in gene function without changing DNA sequence (mutation)

Question 35

Necrosis

Answer 35

Pathological cell death; initiates inflammation

Question 36

Apoptosis

Answer 36

Natural cell death

Question 37

Autophagy

Answer 37

Cell recycling; gets rid of dead/damaged cells

Question 38

Basal autophagy

Answer 38

Normal homeostatic function

Question 39

Runaway autophagy

Answer 39

Can lead to cell death

Question 40

Impaired autophagy

Answer 40

Obesity, Alzheimer's