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Test 2 Flashcards

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1
Q

What is another name for genetic disorder?

A

hereditary disease

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2
Q

When is a point mutation called a genetic disorder/hereditary disease?

A

when the mutation has an adverse affect on the phenotype

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3
Q

When will a small-scale mutation be transmitted to offspring?

A

if it occurs in a gamete or a cell that gives rise to games

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4
Q

What is a point mutation?

A

changes in a single nucleotide pair of a gene

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5
Q

What is chronic mylogenous leukemia (CML)?

A

a portion of chromosome 22 and 5 switch places (produces philadelphia chromosome)

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6
Q

What is Cru du chat?

A

chromosome 5 deletion

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7
Q

What are examples of aneuploidy of sex chromosomes?

A

XXY(male)- klinefelter syndrome
XYY(male)- no well- defined syndrome
XXX(female)- no well defined syndrome
XO(female)-turner syndrome

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8
Q

What disorders can be caused by chromosomal alterations?

A

Down syndrome
Aneuploidy of sex chromosomes
Cru du chat
Chronic myelogenous leukemia

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9
Q

What can cause a deletion?

A

radiation
error in meiosis
* likely to occur during meosis

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10
Q

When does deletion occur?

A

When a chromosomal fragment is lost

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11
Q

What is a mutations functions?

A

Responsible for the huge diversity of genes found among organisms
the ultimate source for new genes

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12
Q

What is a small scale mutation?

A

one or a few nucleotide pairs

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13
Q

What are the affects of large-scale mutations?

A

physical and chemical disturbances
errors during meosis
damage or alter number of chromosomes in the cell

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14
Q

Who do not deal well with large-scale mutations?

A

humans and mammals

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15
Q

Who is less affected by a large-scale mutation?

A

plants

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16
Q

How are large-scale mutations caused?

A

one reason is the meiotic spindle distributes the chromosomes to daughter cells unevenly

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17
Q

What is a result of nondisjunction?

A

one sperm or egg receives two copies of the same chromosomes and one recieves none when each is supposed to recieve one of each

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18
Q

What will happen if the mutated baby is used at fertilization?

A

the growing zygote will have an abnormal number of chromosomes

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19
Q

What is anueploidy?

A

having an abnormal number of chromoses

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20
Q

What happens when nondisjunction occurs during mitosis?

A

if early occuring all subsequent cells will have the abnormal number of chromosomes
* will have a substantial effect on the organism

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21
Q

Do mammals survive polyploidy?

A

no, but plants do

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22
Q

What genetic diseases can be caused by point mutations?

A

sickle cell anemia
cystic fibrosis
Tay-sachs disease
PKU

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23
Q

What are types of small-scale mutatuions?

A

point mutations and insertions

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24
Q

What is a silent mutation?

A

the point mutation has no affect on the mutation no change to amino acid

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25
Q

What is a nonsense mutation?

A

point mutation changes amino acid to a stop codon

always has negative affect on protein

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26
Q

What can insertions or deletions result in?

A

frameshift mutations

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27
Q

What is a frameshift mutation?

A

nucleotides deletion or insertion is not a multiple of 3

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28
Q

What is the result of a frameshift mutation?

A

all nucleotides downstream of the deletion or insertion will be improperly grouped into codons
*will cause missense mutations usually ending in a nonsense mutation?

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29
Q

How often do spontaneous mutations occur?

A

about 1 in every 10^9 nucleotides

*in humans 4-5 mutations will occur everytime a cell is made

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30
Q

What are mutagens ?

A

are physical or chemical agents that interact with DNA in ways that interact with DNA in ways that cause mutations

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31
Q

What cause mutagens?

A

Radiation x-rays, gamma rays, UV light

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32
Q

What are most mutagens?

A

carcinogenic

*they cause cancer

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33
Q

What causes DNA breaks?

A

radiation

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34
Q

A Human has?

A

Tens of thousands of different proteins.

*each w/ a specific structure and function

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35
Q

Proteins are?

A

The most structurally sophisticated molecules known

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36
Q

What is Proteomics?

A

Large-Scale study of proteins

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37
Q

What is a Polypeptide?

A

A polymer of amino acids

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38
Q

What is a protein?

A

A biologically functional molecule made up of one or more polypeptides, each folded & coiled into a specific 3 Dimensional structure.

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39
Q

True or False

All celll’s have the same proteins?

A

False, they do not!

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40
Q

What happens to a protein that is within a cell?

A

They change!

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41
Q

What are the jobs of a protein?

A
  1. Transport 2. Enzymes
  2. Signal Transduction 4. Cell-cell recognition
  3. Inter-cellular joining 6. Attachment to the Cytoskeleton 7. Formation of the Cytoskeleton
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42
Q

What is the monomer for the protein?

A

An amino acid

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43
Q

What does an amino acid (monomer for proteins) contain?

A
  1. Amino Group
  2. Carboxyl Group
  3. Side Chain
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44
Q

What is the Alpha Carbon?

A

The carbon onto which the side chain is attached!

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45
Q

Since there are 20 amino acids,how many different side chains will there be?

A

20 Different side chains

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46
Q

In Chemical Properties, Side Chains differ how?

A
  1. Hydrophilic Basic
  2. Hydrophilic Acid
  3. Hydrophilic Neutral
  4. Hydrophobic
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47
Q

How do Side Chains differ in Physical Properties?

A
  1. Big
  2. Small
  3. Linear
  4. Ringed
48
Q

What determines the unique characteristic of a particular amino acid?

A

The Physical & Chemical properties of a side chain.

*This affects the functional role of polypeptide

49
Q

What is a Mutation?

A

Changes to the genetic information of the cell.

50
Q

What is a large-scale mutation?

A
  1. Are chromosomal rearrangements to the DNA
  2. Are changes to large pieces of the chromosome
    * Sometimes the entire chromosome is affected!!
51
Q

How many mutation scales are there, and what are their names?

A

2 Mutation Scales
~Large-Scale Mutations
~Small-Scale Mutations

52
Q

What is another name for Large-Scale Mutations?

A

Large-Scale Chromosomal Changes

53
Q

What can happen in a Large-Scale mutation when in Humans and/or mammals?

A

Spontaneous abortion also known as Miscarriage

54
Q

What is Nondisjunction?

A

When a pair of chromosomes DO NOT SEPARATE as they should

55
Q

What happens if a Nondisjunction occurs during Meiosis?

A

Then it creates a mutated gamete

56
Q

What is monosomic?

A

When a zygote is missing a chromosome

57
Q

What is Trisomic?

A

When a zygote has an extra chromosome

58
Q

What percentage of Aneuploidy is in all human pregnancies?

A

10-25%

59
Q

What is the main reason for miscarriages?

A

Aneuploidy

60
Q

What is Polyploidy?

A

When an organism has a complete extra set of chromosomes!

61
Q

When does Polyploidy Happen?

A

Happens when every chromosome experiences nondisjunction.

62
Q

What is/produces duplication?

A

During a deletion , deleted fragment becomes attached as an extra segment to the sister chromosome, this produces a duplication

63
Q

What is Translocation?

A

When deletion becomes attached as an extra segment to a non-sister chromosome

64
Q

What is inversion?

A

When deletion reattaches to the original chromosome, but in a backwards orientation

65
Q

Down Syndrome (Trisomy 21) affects how many children?

A

1 out of 830 Children

66
Q

What are the characteristics of Down Syndrome?

A
  1. Facial features
  2. Short Structure
  3. Correctable heart defects
  4. Developmental delays
67
Q

Down Syndrome can INCREASE your chances of developing what?

A
  1. Leukemia

2. Alzheimers

68
Q

Down Syndrome can also have a LOW RATE of what?

A
  1. High Blood Pressure
  2. Atherosclerosis
  3. Stroke
  4. Many solid Tumors
69
Q

Sexually, having Down Syndrome happens to what in Males and Females?

A

In almost all Males & about Half of Females are Sexually Underdeveloped & Sterile

70
Q

In the book, Down Syndrome Risk INCREASES how in the Mother and Father?

A

With AGE!

71
Q

What are the 3 Types of the Mutations?

A
  1. Missense
  2. Silent
  3. Nonsense
72
Q

What is the Missense Mutation?

A

The Point Mutation changes the Amino Acid. This maybe Neutral, Good, or Bad for the Protein.
*Most often Neutral or Bad!

73
Q

What are the Insertions?

A

Refer to ADDING Nucleotides!

74
Q

What is a Deletion?

A

Refers to TAKING Nucleotides AWAY!

75
Q

What happens when a Frameshift Mutation occurs near the end of the Gene?

A

The Protein is almost certain to be Nonfunctional!

76
Q

Where do Mutations come from?

A

Errors during DNA Replication or during Recombination

77
Q

What happens if the ERRORS during DNA replication and/or recombination are NOT Corrected?

A

It is permanent mutation on the DNA

78
Q

What is a Spontaneous Mutation?

A

When DNA replication and/or recombination Errors occur

*which become permanent if NOT fixed.

79
Q

What are the Types of Local Signaling?

A
  1. Autocrine
  2. Paracrine
  3. Synaptic Signaling
  4. Gap Junction Signaling
  5. Plasmodesmata Signaling
  6. Cell-Cell recognition
80
Q

Where is Autocrine found?

A

On the cell’s own Surface

81
Q

What is Paracrine?

A

A signaling cell acts on nearby target cell’s by secreting molecules of a local regulator

82
Q

What is an example of Paracrine?

A

Growth factors are compounds that stimulate nearby targeted cells to grow & divide

83
Q

What is Synaptic Signaling?

A

When a nerve cell releases neurotransmitter molecules into a synapse stimulating the target cell, such as a muscle or another nerve cell

84
Q

Where can Gap Junction Signaling be found?

A

ANIMALS!!

85
Q

Where can plasmodesmata signaling be found?

A

PLANTS!!!

86
Q

What is Cell-Cell recognition?

A

How animal cells may communicate via direct contact between membrane-bundle cell-surface molecules

87
Q

What is the Function of Response in Cell Signaling?

A

The Transduced Signal Triggers the intended cellular response

88
Q

What are the 3 Examples of Response?

A
  1. Catalysis by an Enzyme
  2. Rearrangement of the Cytoskeleton
  3. Activation of Specific Genes in Nucleus
89
Q

What does Transduction do?

A

Cascades of molecular interactions relay signals form receptors to target molecules in the cell

90
Q

What are Signal Transduction Pathways?

A
  1. Specific set of Proteins that are activated (like a domino effect) as a result of initial receptor binding
  2. One protein activates the next protein in the pathway which activates the next & so on until the desired effect of original signal is achieved.
91
Q

There are different things that can occur in a Signal Transduction pathway, what are they?

A
  1. Phosphorylation Cascade

2. Secondary Messengers

92
Q

What does it mean to have Phosphorylation Cascade happen in a Signal Transduction Pathway?

A
  1. When a series of different proteins in a pathway are phosphorylated
    ~means it adds a phosphate group to the next protein
93
Q

What does Kinase refer to?

A

A very Large Family of Enzymes that TRANSFER a Phosphate Group from an ATP to a protein

94
Q

In Kinase the Phosphate Group is sometimes what?

A
  1. An Allosteric Deactivator
    or
  2. An Allosteric Activator
95
Q

Phosphatase refers to what?

A

A family of Enzymes that REMOVE Phosphate Groups
*Can result in either activation
or
Deactivation of the Protein (Often an Enzyme)

96
Q

Kinase & Phosphatase often act in combination w/ one another, what does that mean?

A
  1. One ACTIVATES an Enzyme while the other Deactivates an Enzyme
  2. They act like Molecular Switch allowing cells to turn ON & OFF specific Enzymes in Pathways
97
Q

What are Secondary Messengers?

A

Small Non-Protein water soluble molecules or ions

98
Q

What does the Secondary Messengers do?

A

Readily Spread through the Cell via Diffusion

99
Q

A piece of DNA is made up of what?

A

Thousands of Nucleotides

100
Q

Genes are made up of what?

A

Hundreds to Thousands of Nucleotides

101
Q

A single gene is?

A

A single recipe for a single polypeptide

102
Q

Some Polypeptides are what?

A
  1. Single Proteins (No Quaternary Structure)

2. Come together w/ other Polypeptides to form the functioning protein (Quaternary Structure)

103
Q

Define Codon?

A

Nucleotides that are GROUPED into GROUPS of THREE, in a gene

104
Q

Each Codon Corresponds to how many amino acids?

A

1 Amino Acid

105
Q

What are the Codons Exceptions?

A
  1. Codon that codes for Methionine also acts as the START CODON
    *This signals the start of Gene
  2. THREE codons code for STOP CODONS
    *DO NOT CODE FOR AMINO ACIDS
    ~Signal End of gene, each will have 3 Stop Codons to signify end of gene
106
Q

The Codon Code is?

A

Universal/ Conserved

107
Q

The Nucleotides that Code for Glutamic Acid in Humans also code for?

A

Glutamic Acid in Whales, fish, corn & flesh eating bacteria

108
Q

What does it mean for a code to be Redundant?

A

Codon Codes for the same amino acid

*See amino acid

109
Q

Redundant helps create what?

A

Flexibility within the organism
*In many cases the 3rd nucleotide in the codon IS Changed
~The corresponding amino acid is NOT Changed

110
Q

What happens if Nucleotide Sequence is Wrong?

A

It will affect the Primary Sequence of the Protein in which it codes.

111
Q

Define Transcription

A

The process by which the DNA Code is used to Create a piece of RNA

112
Q

When does RNA Polymerase 2 start to transcribe the GOI?

A

when it encounters the start codon

113
Q

What does RNA polymerase 2 bind to?

A

region upstream of the GOI

114
Q

What do transcription factors help with?

A

coordinate the RNA polymerase 2 enzyme to the GOI

115
Q

What is the primary structure of RNA?

A

order of nucleotides

Study Group Biology (2 decks)

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