Lecture 32 Flashcards

1
Q

mutation

A

permanent change in nucleotide sequence of DNA

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2
Q

mendel

A

change in genotype can lead to change in phenotype

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3
Q

genotype

A

total set of alleles for and organism; sequence of nucleotides coding for specific amino acids

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4
Q

phenotype

A

physical appearance based on allele expression

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5
Q

point mutations

A

alters a single nucleotide

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6
Q

base substitution

A

substitute 1 base pair for another

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7
Q

silent

A

if amino acid stays same, even though DNA sequence is different

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8
Q

missense

A

if amino acid does change as a result of mutation

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9
Q

nonsense

A

base change converts codon to stop codon

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10
Q

frameshift mutation

A

adds or deletes a base from DNA

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11
Q

truncated protein

A

shortened protein due to base change where a codon is converted to a stop codon

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12
Q

chromosomal mutations

A

changes the structure of a chromosome

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13
Q

deletions

A

a portion of the chromosome is lost

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14
Q

duplications

A

a region of the chromosome is duplicated or repeated

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15
Q

inversions

A

segment of the chromosome breaks in 2 places, reverses, and is put back together

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16
Q

translocations

A

a piece of chromosome breaks off and joins another chromosome

17
Q

sickle cell anemia

A

result of a base substitution; gene encoding for 1 of hemoglobin polypeptides (a substituted for t)

18
Q

hemoglobin

A

protein made up of 4 polypeptide chains and 4 heme groups

19
Q

heme groups

A

binds Fe3+ which can bind O2

20
Q

red blood cells

A

contain hemoglobin, purpose is to bind O2

21
Q

“sticky”

A

hemoglobin becomes hydrophobic and molecules stick together causing RBC’s to develop sickle shape

22
Q

Point mutations can be…

A

missense, nonsense, or silent