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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
What does the "m" in mRNA stand for?
messenger
25
What does mRNA deliver to the ribosome?
the "recipe" for making new proteins
26
What does transfer RNA (tRNA) do?
transport anticodon amino acids to ribosomes
27
What is a polypeptide chain?
a protein chain of anticodons
28
What ends the process of translation?
stop codon on mRNA
29
Transcription occurs (in/out) of the nucleus.
in
30
Translation occurs (in/out) of the nucleus.
out, in ribosomes
31
Genes
segments of DNA that encode for specific proteins
32
DNA
composed of various genes
33
Chromosomes
structure that organizes DNA into various sections
34
Genetics
the study of genes (how they carry, express, replicate information)
35
What is the result of mitosis?
two genetically identical (2n) daughter cells
36
What is the result of meiosis?
four genetically unique (n) daughter cells
37
When do genetic mutations occur?
during DNA replication
38
Substitution Mutation
incorrect amino acid sequence
39
What does substitution mutation result in?
a new amino acid
40
What is an example of the result of a substitution mutation?
sickle-cell anemia
41
Insertion Mutation
insertion of a new incorrect nucleotide
42
What does an insertion mutation result in?
multiple new amino acids
43
Deletion Mutation
the appropriate nucleotide is removed
44
What does deletion mutation result in?
multiple new amino acids
45
What is an example of the result of a deletion mutation?
cystic fibrosis
46
Mutation involves _______
evolution
47
When a mutation provides no benefit to the environment it means...
no evolution has occurred
48
When a mutation has negative effects on an environment it means...
extinction has occurred
49
When a mutation has a positive benefit in an environment it means...
that mutation has become dominant in the environment
50
What is a base pair substitution mutation?
Mutation where one base pair replaces another, only one amino acid changes
51
What are the two types of base pair substitutions?
missense and nonsense
52
Missense Base Pair Substitution
produces a change in a single amino acid
53
Nonsense Base Pair Substitution (think: "stop this nonsense!)
produces one of three STOP codons
54
What is a frameshift mutation?
the insertion or deletion of one or more base pairs
55
How much does a frameshift mutation alter an amino acid sequence?
greatly, produces dramatic change to the produced protein
56
Genotype
genetic material passes between generations
57
Phenotype
observable characteristics or traits of an organism
58
What does 'autosomal' mean?
the gene is located on the numbered (non-sex) chromosomes
59
Autosomal Dominant Inheritance
-located on numbered chromosomes -single copy of mutation is enough to cause disease
60
Autosomal Dominant Inheritance Example:
father (Aa) with one copy of the abnormal gene produces 2/4 affected children
61
Autosomal Recessive Inheritance
-located on numbered chromosomes -two copies of mutation required to cause disease
62
Autosomal Recessive Inheritance Example:
unaffected carrier mother and father (Aa) have four children: one is unaffected (AA), two are carriers (Aa), one is affected (aa)
63
Who carries an X-linked genetic mutation?
mother
64
X-Linked Mutations are present on which chromosomes?
sex chromosome
65
How does an X-linked mutation affect female children?
they become carriers
66
How does an X-linked mutation affect male children?
they become affected
67
Polygenic Traits
traits affected by more than one gene (ie. hair colour)

HLSC 222 - Pathophysiology Across the Lifespan (17 decks)

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