Test 2 Flashcards
(115 cards)
1
Q
What is another name for genetic disorder?
A
hereditary disease
2
Q
When is a point mutation called a genetic disorder/hereditary disease?
A
when the mutation has an adverse affect on the phenotype
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
4
Q
What is a point mutation?
A
changes in a single nucleotide pair of a gene
5
Q
What is chronic mylogenous leukemia (CML)?
A
a portion of chromosome 22 and 5 switch places (produces philadelphia chromosome)
6
Q
What is Cru du chat?
A
chromosome 5 deletion
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
8
Q
What disorders can be caused by chromosomal alterations?
A
Down syndrome
Aneuploidy of sex chromosomes
Cru du chat
Chronic myelogenous leukemia
9
Q
What can cause a deletion?
A
radiation
error in meiosis
* likely to occur during meosis
10
Q
When does deletion occur?
A
When a chromosomal fragment is lost
11
Q
What is a mutations functions?
A
Responsible for the huge diversity of genes found among organisms
the ultimate source for new genes
12
Q
What is a small scale mutation?
A
one or a few nucleotide pairs
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
14
Q
Who do not deal well with large-scale mutations?
A
humans and mammals
15
Q
Who is less affected by a large-scale mutation?
A
plants
16
Q
How are large-scale mutations caused?
A
one reason is the meiotic spindle distributes the chromosomes to daughter cells unevenly
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
18
Q
What will happen if the mutated baby is used at fertilization?
A
the growing zygote will have an abnormal number of chromosomes
19
Q
What is anueploidy?
A
having an abnormal number of chromoses
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
21
Q
Do mammals survive polyploidy?
A
no, but plants do
22
Q
What genetic diseases can be caused by point mutations?
A
sickle cell anemia
cystic fibrosis
Tay-sachs disease
PKU
23
Q
What are types of small-scale mutatuions?
A
point mutations and insertions
24
Q
What is a silent mutation?
A
the point mutation has no affect on the mutation no change to amino acid
25
What is a nonsense mutation?
point mutation changes amino acid to a stop codon
| always has negative affect on protein
26
What can insertions or deletions result in?
frameshift mutations
27
What is a frameshift mutation?
nucleotides deletion or insertion is not a multiple of 3
28
What is the result of a frameshift mutation?
all nucleotides downstream of the deletion or insertion will be improperly grouped into codons
*will cause missense mutations usually ending in a nonsense mutation?
29
How often do spontaneous mutations occur?
about 1 in every 10^9 nucleotides
| *in humans 4-5 mutations will occur everytime a cell is made
30
What are mutagens ?
are physical or chemical agents that interact with DNA in ways that interact with DNA in ways that cause mutations
31
What cause mutagens?
Radiation x-rays, gamma rays, UV light
32
What are most mutagens?
carcinogenic
| *they cause cancer
33
What causes DNA breaks?
radiation
34
A Human has?
Tens of thousands of different proteins.
| *each w/ a specific structure and function
35
Proteins are?
The most structurally sophisticated molecules known
36
What is Proteomics?
Large-Scale study of proteins
37
What is a Polypeptide?
A polymer of amino acids
38
What is a protein?
A biologically functional molecule made up of one or more polypeptides, each folded & coiled into a specific 3 Dimensional structure.
39
True or False
| All celll's have the same proteins?
False, they do not!
40
What happens to a protein that is within a cell?
They change!
41
What are the jobs of a protein?
1. Transport 2. Enzymes
3. Signal Transduction 4. Cell-cell recognition
5. Inter-cellular joining 6. Attachment to the Cytoskeleton 7. Formation of the Cytoskeleton
42
What is the monomer for the protein?
An amino acid
43
What does an amino acid (monomer for proteins) contain?
1. Amino Group
2. Carboxyl Group
3. Side Chain
44
What is the Alpha Carbon?
The carbon onto which the side chain is attached!
45
Since there are 20 amino acids,how many different side chains will there be?
20 Different side chains
46
In Chemical Properties, Side Chains differ how?
1. Hydrophilic Basic
2. Hydrophilic Acid
3. Hydrophilic Neutral
4. Hydrophobic
47
How do Side Chains differ in Physical Properties?
1. Big
2. Small
3. Linear
4. Ringed
48
What determines the unique characteristic of a particular amino acid?
The Physical & Chemical properties of a side chain.
| *This affects the functional role of polypeptide
49
What is a Mutation?
Changes to the genetic information of the cell.
50
What is a large-scale mutation?
1. Are chromosomal rearrangements to the DNA
2. Are changes to large pieces of the chromosome
* Sometimes the entire chromosome is affected!!
51
How many mutation scales are there, and what are their names?
2 Mutation Scales
~Large-Scale Mutations
~Small-Scale Mutations
52
What is another name for Large-Scale Mutations?
Large-Scale Chromosomal Changes
53
What can happen in a Large-Scale mutation when in Humans and/or mammals?
Spontaneous abortion also known as Miscarriage
54
What is Nondisjunction?
When a pair of chromosomes DO NOT SEPARATE as they should
55
What happens if a Nondisjunction occurs during Meiosis?
Then it creates a mutated gamete
56
What is monosomic?
When a zygote is missing a chromosome
57
What is Trisomic?
When a zygote has an extra chromosome
58
What percentage of Aneuploidy is in all human pregnancies?
10-25%
59
What is the main reason for miscarriages?
Aneuploidy
60
What is Polyploidy?
When an organism has a complete extra set of chromosomes!
61
When does Polyploidy Happen?
Happens when every chromosome experiences nondisjunction.
62
What is/produces duplication?
During a deletion , deleted fragment becomes attached as an extra segment to the sister chromosome, this produces a duplication
63
What is Translocation?
When deletion becomes attached as an extra segment to a non-sister chromosome
64
What is inversion?
When deletion reattaches to the original chromosome, but in a backwards orientation
65
Down Syndrome (Trisomy 21) affects how many children?
1 out of 830 Children
66
What are the characteristics of Down Syndrome?
1. Facial features
2. Short Structure
3. Correctable heart defects
4. Developmental delays
67
Down Syndrome can INCREASE your chances of developing what?
1. Leukemia
| 2. Alzheimers
68
Down Syndrome can also have a LOW RATE of what?
1. High Blood Pressure
2. Atherosclerosis
3. Stroke
4. Many solid Tumors
69
Sexually, having Down Syndrome happens to what in Males and Females?
In almost all Males & about Half of Females are Sexually Underdeveloped & Sterile
70
In the book, Down Syndrome Risk INCREASES how in the Mother and Father?
With AGE!
71
What are the 3 Types of the Mutations?
1. Missense
2. Silent
3. Nonsense
72
What is the Missense Mutation?
The Point Mutation changes the Amino Acid. This maybe Neutral, Good, or Bad for the Protein.
*Most often Neutral or Bad!
73
What are the Insertions?
Refer to ADDING Nucleotides!
74
What is a Deletion?
Refers to TAKING Nucleotides AWAY!
75
What happens when a Frameshift Mutation occurs near the end of the Gene?
The Protein is almost certain to be Nonfunctional!
76
Where do Mutations come from?
Errors during DNA Replication or during Recombination
77
What happens if the ERRORS during DNA replication and/or recombination are NOT Corrected?
It is permanent mutation on the DNA
78
What is a Spontaneous Mutation?
When DNA replication and/or recombination Errors occur
| *which become permanent if NOT fixed.
79
What are the Types of Local Signaling?
1. Autocrine
2. Paracrine
3. Synaptic Signaling
4. Gap Junction Signaling
5. Plasmodesmata Signaling
6. Cell-Cell recognition
80
Where is Autocrine found?
On the cell's own Surface
81
What is Paracrine?
A signaling cell acts on nearby target cell's by secreting molecules of a local regulator
82
What is an example of Paracrine?
Growth factors are compounds that stimulate nearby targeted cells to grow & divide
83
What is Synaptic Signaling?
When a nerve cell releases neurotransmitter molecules into a synapse stimulating the target cell, such as a muscle or another nerve cell
84
Where can Gap Junction Signaling be found?
ANIMALS!!
85
Where can plasmodesmata signaling be found?
PLANTS!!!
86
What is Cell-Cell recognition?
How animal cells may communicate via direct contact between membrane-bundle cell-surface molecules
87
What is the Function of Response in Cell Signaling?
The Transduced Signal Triggers the intended cellular response
88
What are the 3 Examples of Response?
1. Catalysis by an Enzyme
2. Rearrangement of the Cytoskeleton
3. Activation of Specific Genes in Nucleus
89
What does Transduction do?
Cascades of molecular interactions relay signals form receptors to target molecules in the cell
90
What are Signal Transduction Pathways?
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
There are different things that can occur in a Signal Transduction pathway, what are they?
1. Phosphorylation Cascade
| 2. Secondary Messengers
92
What does it mean to have Phosphorylation Cascade happen in a Signal Transduction Pathway?
1. When a series of different proteins in a pathway are phosphorylated
~means it adds a phosphate group to the next protein
93
What does Kinase refer to?
A very Large Family of Enzymes that TRANSFER a Phosphate Group from an ATP to a protein
94
In Kinase the Phosphate Group is sometimes what?
1. An Allosteric Deactivator
or
2. An Allosteric Activator
95
Phosphatase refers to what?
A family of Enzymes that REMOVE Phosphate Groups
*Can result in either activation
or
Deactivation of the Protein (Often an Enzyme)
96
Kinase & Phosphatase often act in combination w/ one another, what does that mean?
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
What are Secondary Messengers?
Small Non-Protein water soluble molecules or ions
98
What does the Secondary Messengers do?
Readily Spread through the Cell via Diffusion
99
A piece of DNA is made up of what?
Thousands of Nucleotides
100
Genes are made up of what?
Hundreds to Thousands of Nucleotides
101
A single gene is?
A single recipe for a single polypeptide
102
Some Polypeptides are what?
1. Single Proteins (No Quaternary Structure)
| 2. Come together w/ other Polypeptides to form the functioning protein (Quaternary Structure)
103
Define Codon?
Nucleotides that are GROUPED into GROUPS of THREE, in a gene
104
Each Codon Corresponds to how many amino acids?
1 Amino Acid
105
What are the Codons Exceptions?
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
The Codon Code is?
Universal/ Conserved
107
The Nucleotides that Code for Glutamic Acid in Humans also code for?
Glutamic Acid in Whales, fish, corn & flesh eating bacteria
108
What does it mean for a code to be Redundant?
Codon Codes for the same amino acid
| *See amino acid
109
Redundant helps create what?
Flexibility within the organism
*In many cases the 3rd nucleotide in the codon IS Changed
~The corresponding amino acid is NOT Changed
110
What happens if Nucleotide Sequence is Wrong?
It will affect the Primary Sequence of the Protein in which it codes.
111
Define Transcription
The process by which the DNA Code is used to Create a piece of RNA
112
When does RNA Polymerase 2 start to transcribe the GOI?
when it encounters the start codon
113
What does RNA polymerase 2 bind to?
region upstream of the GOI
114
What do transcription factors help with?
coordinate the RNA polymerase 2 enzyme to the GOI
115
What is the primary structure of RNA?
order of nucleotides
