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Human Genetics > Final Exam - Mutations > Flashcards

Final Exam - Mutations Flashcards

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Biology 101 flashcards
1
Q

teratogen

A

chemicals or other agents that cause birth defects

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

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2
Q

transition

A

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

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3
Q

transversion

A

purine substituted for a a pyrimidine

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4
Q

missense

A

wrong aa is inserted into a chain

  • ex glu to val
  • sickle cell anemia
  • dwarfism
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5
Q

sense

A

stop codon changed to aa reading codon

-thalaseemias

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6
Q

nonsense

A

aa readin codon is changed to a stop codon

-thalassemias, marfan syndrome

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7
Q

silent

A

same aa is brought into chain by a different codon

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8
Q

frameshift mutation

A

additon or deletion of bases can change the reading codons downstream

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9
Q

dimer

A

between two adjacent pyrimidines caused by UV light

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10
Q

excision repair

A

error in process to remove thymine dimers causes xeroderma pigmentosum

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11
Q

photoreactivation enzyme

A

enzyme cuts the dimer so it doesnt cause a problem

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12
Q

neoplasia

A

abnormal cellular growth

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13
Q

carcinoma

A

ectoderm/endoderm so skin, brain, colon

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14
Q

leukemia/lymphoma

A

immune system

  • too many white blood cells
  • lymph system
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15
Q

sarcoma

A

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

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16
Q

constitutional

A

inherited mutations

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17
Q

sporadic

A

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

18
Q

retrovirus

A

enters body cell which disrupts the DNA sequence

-example HIV and HPV,

19
Q

proto-oncogene

A

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

20
Q

oncogene

A

causes uncontrolled cell growth

-mutated proto-oncogene

21
Q

anti-oncogene

A

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

22
Q

repair gene

A

error in DNA repairs which can lead to cancer

23
Q

adenoma

A

non cancerous tumor that can affect organs

-formed by muliple polyps

24
Q

Breast Cancer

A

-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

25
Q

colon/rectal cancer

A
  • 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
26
Q

Li Fraumeni syndrome

A
  • 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
27
Q

lymphocytes

A

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

28
Q

T-cells

A
  • 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
29
Q

B cells

A

active and involved in antibody mediated immunity

  • memory -remember foreign antigens
  • plasma- produce antibodies
30
Q

plasma cells

A

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

31
Q

clonal selection

A

antibody and antigen match

32
Q

immunoglobulins

A

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

33
Q

Ig G

A

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

34
Q

Ig A

A

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

35
Q

Ig M

A

found in blood plasma but cannot cross the placenta

-ex ABO RBC surface proteins-universal donor and reciever

36
Q

Ig E

A

causes allergic reactions so a hypersensitive immune system

37
Q

hemolytic diease

A

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

38
Q

autoimmune dieases

A

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

39
Q

major histocompatibility complex

A

transplants require HLA matching which is difficult because of numerous alleles

40
Q

immune dieases

A
  • 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

Human Genetics (17 decks)

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