Final Exam - Mutations

Question 1

teratogen

Answer 1

chemicals or other agents that cause birth defects

-examples include drugs, viruses, protozoans, social activities, lack of nutrients

Question 2

transition

Answer 2

purine is substituted for a different purine or pyrimidine is substituted for another pyramidine

Question 3

transversion

Answer 3

purine substituted for a a pyrimidine

Question 4

missense

Answer 4

wrong aa is inserted into a chain

• ex glu to val
• sickle cell anemia
• dwarfism

Question 5

sense

Answer 5

stop codon changed to aa reading codon

-thalaseemias

Question 6

nonsense

Answer 6

aa readin codon is changed to a stop codon

-thalassemias, marfan syndrome

Question 7

silent

Answer 7

same aa is brought into chain by a different codon

Question 8

frameshift mutation

Answer 8

additon or deletion of bases can change the reading codons downstream

Question 9

dimer

Answer 9

between two adjacent pyrimidines caused by UV light

Question 10

excision repair

Answer 10

error in process to remove thymine dimers causes xeroderma pigmentosum

Question 11

photoreactivation enzyme

Answer 11

enzyme cuts the dimer so it doesnt cause a problem

Question 12

neoplasia

Answer 12

abnormal cellular growth

Question 13

carcinoma

Answer 13

ectoderm/endoderm so skin, brain, colon

Question 14

leukemia/lymphoma

Answer 14

immune system

• too many white blood cells
• lymph system

Question 15

sarcoma

Answer 15

-mesoderm which includes the bone, fat, muscles, and connective tissue

Question 16

constitutional

Answer 16

inherited mutations

Question 17

sporadic

Answer 17

spontaneous so no mutation in the genome, new mutation must occur

Question 18

retrovirus

Answer 18

enters body cell which disrupts the DNA sequence

-example HIV and HPV,

Question 19

proto-oncogene

Answer 19

-a normal cell divison regulating gene mutates into an oncogene which causes uncontrolled cell growth

Question 20

oncogene

Answer 20

causes uncontrolled cell growth

-mutated proto-oncogene

Question 21

anti-oncogene

Answer 21

tumor supressor gene can mutate or is lost from the cells genome

Question 22

repair gene

Answer 22

error in DNA repairs which can lead to cancer

Question 23

adenoma

Answer 23

non cancerous tumor that can affect organs

-formed by muliple polyps

Question 24

Breast Cancer

Answer 24

-error in DNA repair gene
-BRCA 1- inherited error, closely linked to ovarian and prostate cancer
BRCA2- less frequent that BRCA 1, dna gene repair error in G1

Question 25

colon/rectal cancer

Answer 25

- FAP - Familial adnomatous polypsosis which is the homozygous recessive state=no polyps. Adenoma, cause is a tumor supressor gene - HNPCC-hereditary nonpolyposis colon cancer which involves autosomal dominant repair genes

Question 26

Li Fraumeni syndrome

Answer 26

- dominant tumor supressor p53 gene is deleted - loss is associated with many sporadic cancers - normal p53's protein helps regulate cyclin's activity and controls the cell cycle

Question 27

lymphocytes

Answer 27

white blood cells that are formed in the bone marrow as a response to foreign antigens

Question 28

T-cells

Answer 28

- processed in the thymus gland involved in cell mediated immunity - helper- alert about foreign antigen - cytotoxic (killer)- attack other cells directly - memory- encounter same foreign protein which stimulates the immune system

Question 29

B cells

Answer 29

active and involved in antibody mediated immunity - memory -remember foreign antigens - plasma- produce antibodies

Question 30

plasma cells

Answer 30

make antibodies which are y shaped proteins that consist of light and heavy chains with constant and variable regions

Question 31

clonal selection

Answer 31

antibody and antigen match

Question 32

immunoglobulins

Answer 32

antibodies produced by plasma cells and they recognize and bind to antigens

Question 33

Ig G

Answer 33

found in blood plasma that can cross the placenta and the Rh factor incompatibility can lead to hemolytic disease by the bilirubin

Question 34

Ig A

Answer 34

found in body secretions which protect the body openings in skin and cavity linings

Question 35

Ig M

Answer 35

found in blood plasma but cannot cross the placenta | -ex ABO RBC surface proteins-universal donor and reciever

Question 36

Ig E

Answer 36

causes allergic reactions so a hypersensitive immune system

Question 37

hemolytic diease

Answer 37

when blood types of mother and baby are incompatible, Rh incompatability

Question 38

autoimmune dieases

Answer 38

when the body forgets what belongs to itself so it attacks itself ex. insulin dependent diabetes, rheumatoid arthritis, lupus, multiple sclerosis, and scleroderma

Question 39

major histocompatibility complex

Answer 39

transplants require HLA matching which is difficult because of numerous alleles

Question 40

immune dieases

Answer 40

- SCID- severe combined immunodeficiency, no B or T cells - XLA - agammaglobulinemia-defective or no B cells produces - HIV-caused by a retrovirus and destroys helper t cells