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HLSC 222 - Pathophysiology Across the Lifespan > Chapter 2 - Genes and Genetic Diseases > Flashcards

Chapter 2 - Genes and Genetic Diseases Flashcards

1
Q

What are chromosomes made of?

A

one long DNA molecule

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2
Q

What are the functional regions of DNA?

A

genes

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3
Q

DNA is a ____________ model

A

double-helix

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4
Q

How many protein coding genes do humans have?

A

20 000

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5
Q

What are the two strands in DNA held together by?

A

hydrogen bonds

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6
Q

What makes up the “backbone” of DNA?

A

deoxyribose-phosphate molecules

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7
Q

What makes up the “rungs” of a DNA molecule?

A

nitrogen bases

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8
Q

Adenine pairs with ______

A

Thymine

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9
Q

Guanine pairs with ______

A

Cytosine

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10
Q

Antiparallel

A

DNA strands run in opposite directions but parallel to one another

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11
Q

What is the purpose of the antiparallel nature of DNA?

A

one strand serves as a template for the creation of the second strand

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12
Q

Negative strand is a template for making the ________ strand

A

positive

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13
Q

Positive strand is a template for making the _________ strand

A

negative

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14
Q

Where is the parent strand broken to begin replicating?

A

replication fork

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15
Q

Nucleotide

A

building block of DNA and RNA composed of a sugar, nitrogen base, phosphate group

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16
Q

What is the result of DNA replication?

A

two identical copies of original DNA

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16
Q

What is a codon?

A

a pairing of 3 sequential nitrogen bases that code for a specific amino acid

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17
Q

How many types of amino acids does the body contain?

A

20

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18
Q

What makes up a protein?

A

a specific combination of amino acids

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19
Q

What is transcription?

A

when DNA gene sequence is copied to make an mRNA molecule

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20
Q

What is translation?

A

decoding of mRNA into amino acids to create proteins

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21
Q

What organelle translates proteins?

A

ribosomes

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22
Q

What is the primary end product of translation?

A

enzymes

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23
Q

What is RNA called when it moves out of the nucleus? Where does it go?

A

It is called mRNA and it goes to the ribosomes

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24
Q

What does the “m” in mRNA stand for?

A

messenger

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25
Q

What does mRNA deliver to the ribosome?

A

the “recipe” for making new proteins

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26
Q

What does transfer RNA (tRNA) do?

A

transport anticodon amino acids to ribosomes

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27
Q

What is a polypeptide chain?

A

a protein chain of anticodons

28
Q

What ends the process of translation?

A

stop codon on mRNA

29
Q

Transcription occurs (in/out) of the nucleus.

A

in

30
Q

Translation occurs (in/out) of the nucleus.

A

out, in ribosomes

31
Q

Genes

A

segments of DNA that encode for specific proteins

32
Q

DNA

A

composed of various genes

33
Q

Chromosomes

A

structure that organizes DNA into various sections

34
Q

Genetics

A

the study of genes (how they carry, express, replicate information)

35
Q

What is the result of mitosis?

A

two genetically identical (2n) daughter cells

36
Q

What is the result of meiosis?

A

four genetically unique (n) daughter cells

37
Q

When do genetic mutations occur?

A

during DNA replication

38
Q

Substitution Mutation

A

incorrect amino acid sequence

39
Q

What does substitution mutation result in?

A

a new amino acid

40
Q

What is an example of the result of a substitution mutation?

A

sickle-cell anemia

41
Q

Insertion Mutation

A

insertion of a new incorrect nucleotide

42
Q

What does an insertion mutation result in?

A

multiple new amino acids

43
Q

Deletion Mutation

A

the appropriate nucleotide is removed

44
Q

What does deletion mutation result in?

A

multiple new amino acids

45
Q

What is an example of the result of a deletion mutation?

A

cystic fibrosis

46
Q

Mutation involves _______

A

evolution

47
Q

When a mutation provides no benefit to the environment it means…

A

no evolution has occurred

48
Q

When a mutation has negative effects on an environment it means…

A

extinction has occurred

49
Q

When a mutation has a positive benefit in an environment it means…

A

that mutation has become dominant in the environment

50
Q

What is a base pair substitution mutation?

A

Mutation where one base pair replaces another, only one amino acid changes

51
Q

What are the two types of base pair substitutions?

A

missense and nonsense

52
Q

Missense Base Pair Substitution

A

produces a change in a single amino acid

53
Q

Nonsense Base Pair Substitution (think: “stop this nonsense!)

A

produces one of three STOP codons

54
Q

What is a frameshift mutation?

A

the insertion or deletion of one or more base pairs

55
Q

How much does a frameshift mutation alter an amino acid sequence?

A

greatly, produces dramatic change to the produced protein

56
Q

Genotype

A

genetic material passes between generations

57
Q

Phenotype

A

observable characteristics or traits of an organism

58
Q

What does ‘autosomal’ mean?

A

the gene is located on the numbered (non-sex) chromosomes

59
Q

Autosomal Dominant Inheritance

A

-located on numbered chromosomes
-single copy of mutation is enough to cause disease

60
Q

Autosomal Dominant Inheritance Example:

A

father (Aa) with one copy of the abnormal gene produces 2/4 affected children

61
Q

Autosomal Recessive Inheritance

A

-located on numbered chromosomes
-two copies of mutation required to cause disease

62
Q

Autosomal Recessive Inheritance Example:

A

unaffected carrier mother and father (Aa) have four children: one is unaffected (AA), two are carriers (Aa), one is affected (aa)

63
Q

Who carries an X-linked genetic mutation?

A

mother

64
Q

X-Linked Mutations are present on which chromosomes?

A

sex chromosome

65
Q

How does an X-linked mutation affect female children?

A

they become carriers

66
Q

How does an X-linked mutation affect male children?

A

they become affected

67
Q

Polygenic Traits

A

traits affected by more than one gene (ie. hair colour)

HLSC 222 - Pathophysiology Across the Lifespan (16 decks)

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