Science10 Q3 Ver4 Mod5
Science10 Q3 Ver4 Mod5
Science10 Q3 Ver4 Mod5
Science
Quarter 3 – Module 5:
Mutation
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Management Team
1 Gene Mutation
What’s New
If you take the analogy that the information in DNA is a series of sentences,
mutations are mistakes in spelling of words that make up those sentences.
Sometimes, mutations are insignificant, like a misspelled word whose meaning is
still quite clear. Sometimes, mutations have stronger implications, like a sentence
whose meaning is completely changed.
What is It
What is a Gene?
1
Genes are segments of DNA located on chromosomes. A gene mutation is
defined as an alteration in the sequence of nucleotides in DNA. This change can affect
a single nucleotide pair or larger gene segments of a chromosome. DNA consists of
a polymer of nucleotides joined together. During protein synthesis, DNA
is transcribed into RNA and then translated to produce proteins. Altering nucleotide
sequences most often results in nonfunctioning proteins. Mutations cause changes
in the genetic code that lead to genetic variation and the potential to develop the
disease. Gene mutations can be generally categorized into two types: point mutations
and base-pair insertions or deletions. (3)
Small-Scale Mutation
Small-scale mutations are types of gene mutations, such as those affecting a small
gene in one or a few nucleotides. There are 2 types of gene mutations: Point
Mutation and Frame-Shift Mutation.
a. Point Mutation
Figure 1. Illustration of point mutation where there is a change in the nitrogen base
sequence.
2
Since there are only 20 amino acids and a total of 64 possible combinations
of codons, some amino acids are coded for by more than one codon. Often, if the
third nitrogen base in the codon is changed, the amino acid won't be affected. This
is called the wobble effect. If the point mutation occurs in the third nitrogen base in
a codon, then it has no effect on the amino acid or subsequent protein and the
mutation does not change the organism.
At most, a point mutation will cause a single amino acid in a protein to change.
While this usually is not a deadly mutation, it may cause issues with that protein's
folding pattern and the tertiary and quaternary structures of the protein.
One example of a point mutation that is not harmless is the incurable blood
disorder sickle cell anemia. This happens when a point mutation causes a single
nitrogen base in a codon for one amino acid in the protein glutamic acid to code for
the amino acid valine instead. This single small change causes a normally round red
blood cell to instead be sickle-shaped. (2)
There are three major types of point mutations which occurs by Substitution:
silent mutation, missense mutation and nonsense mutation.
Silent Mutations: These are types of change that do not alter the sequence of
a protein because of the redundancy of the genetic code (the new triplet codes for the
same amino acid as the original triplet), or because it affects an area not coding DNA
or an intron. But this change can still have serious consequences on the phenotype.
Indeed, the change of a single nucleotide can change the splice donor site, without
changing the amino acid sequence. This may, therefore, result in a deletion of an
entire exon of the peptide sequence, the exon is not recognized because the splice
site has been mutated. A synonymous mutation means a silent mutation that affects
exon, without changing the protein sequence. (2)
3
acid encoded, which may or may not have an impact on the function of the protein
produced by the gene in the case of a gene encoding, or the affinity for a transcription
factor, in the case of a promoter region of the DNA. We speak of
mutation transition when there is a substitution of a purine base to another base
purine (or pyrimidine base to another pyrimidine base). In contrast, a
mutation transversion is a mutation caused by the replacement of a purine by a
pyrimidine base (or pyrimidine base by a purine base). (2)
b. Frame-Shift Mutation
Frame-shift Mutations are generally much more serious and often more
deadly than point mutations. Even though only a single nitrogen base is affected, as
with point mutations, in this instance, the single base is either completely deleted or
an extra one is inserted into the middle of the DNA sequence. This change in
sequence causes the reading frame to shift—hence the name "frameshift" mutation.
A reading frame shift changes the three-letter codon sequence for messenger RNA to
transcribe and translate. That not only changes the original amino acid but all
subsequent amino acids as well. This significantly alters the protein and can cause
severe problems, even possibly leading to death. Frame-shift mutations occur by
Insertion and Deletion. (1)
Insertions add one or more extra nucleotides into the DNA. They are usually
caused by transposable elements, or errors during the replication of repeating
elements (e.g., AT repeats). Insertions in the coding region of a gene may alter splicing
of the mRNA (splice site mutation), or cause a shift in the reading frame (frameshift
mutation), both of which can significantly alter the gene product. Insertions can be
reversed by the excision of the transposable element. (2)
4
Figure 4. Frame shift mutation – Deletion.
Deletions mean removing one or more nucleotides from the DNA. Like
insertions, these mutations can alter the reading frame of the gene. In general, they
are irreversible: Though exactly the same sequence might, in theory, be restored by
an insertion, transposable elements able to revert a very short deletion (say 1–2
bases) in any location either are highly unlikely to exist or do not exist at all. (2)
If there was a point mutation (substitution), the sentence would change to:
The "E" in the word "the" mutated into the letter "C". While the first word in
the sentence is no longer the same, the rest of the words still make sense and remain
what they're supposed to be.
If an insertion was going to mutate the above sentence, then it might read:
The insertion of the letter "C" after the word "the" completely changes the rest
of the sentence. The second word no longer makes sense, nor do any words that
follow it. The entire sentence has changed into nonsense.
5
In the example above, the "R" that should have come after the word "THE" has
been deleted. Again, it changes the entire sentence. While some of the subsequent
words remain intelligible, the meaning of the sentence has completely changed. This
demonstrates that even when codons are changed into something that isn't total
nonsense, it still completely changes the protein into something that is no longer
functionally viable. (2)
What’s More
Activity 1.1
Complete the boxes below. Classify each as either Frameshift or Point Mutation, then
specify further if it is Substitution, Deletion or Insertion. Use the given data in order
to determine the amino acid sequence. Remember, RNA has Uracil instead of
Thymine.
Original DNA Sequence: TAC-ACC-TTG-GCG-ACG-ACT
mRNA Sequence: AUG-UGG-AAC-CGC-UGC-UGA
Amino Acid Sequence: Met-Tryp-Asn-Arg-Cys-STOP
6
Use this Codon Chart for the Activity.
What I Can Do
7
Wolverine's primary mutant power is an
accelerated healing process that enables him
to regenerate damaged or destroyed tissue
with far greater efficiency than an ordinary
human. He can regenerate great damage or
destroyed tissue with few seconds.
Questions:
8
Lesson 1: Assessment
Choose the letter of the best answer. Write the chosen letter on a separate sheet of
paper.
1. Frame shift Mutations are generally much more serious and often more deadly
than point mutations.
A. The statement above is true.
B. The statement above is false.
C. It depends upon the condition of the DNA.
D. It is much more serious but not deadly.
8. Which type of mutation does NOT change the overall function of the protein?
A. Missense B. Nonsense
C. Insertion D. Silent
9
Lesson
2 Chromosomal Mutation
What’s New
What is It
10
Duplications and breakages of chromosomes are responsible for a type of
chromosome mutation that alters chromosome structure. These changes
affect protein production by changing the genes on the chromosome. Chromosome
structure changes are often harmful to an individual leading to developmental
difficulties and even death. Some changes are not as harmful and may have no
significant effect on an individual. There are several types of chromosome structure
changes that can occur. Some of them include: (4)
a. Translocation
b. Deletion
This mutation results from the breakage of a chromosome in which the genetic
material becomes lost during cell division. The genetic material can break off from
anywhere on the chromosome.
c. Duplication
d. Inversion
e. Isochromosome
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Types of Chromosomal Mutation
A chromosome mutation that causes individuals to have an abnormal number of
chromosomes is termed aneuploidy. Aneuploid cells occur as a result of
chromosome breakage or nondisjunction errors that happen during meiosis
or mitosis. Nondisjunction is the failure of homologous chromosomes to separate
properly during cell division. It produces individuals with either extra or missing
chromosomes. Sex chromosome abnormalities that result from nondisjunction can
lead to conditions such as Klinefelter and Turner syndromes. In Klinefelter
syndrome, males have one or more extra X sex chromosomes. In Turner syndrome,
females have only one X sex chromosome. Down syndrome is an example of a
condition that occurs due to nondisjunction in autosomal (non-sex) cells. Individuals
with Down syndrome have an extra chromosome on autosomal chromosome 21.
A chromosome mutation that results in individuals with more than one haploid set
of chromosomes in a cell is termed polyploidy. A haploid cell is a cell that contains
one complete set of chromosomes. Our sex cells are considered haploid and contain
1 complete set of 23 chromosomes. Our autosomal cells are diploid and contain 2
complete sets of 23 chromosomes. If a mutation causes a cell to have three haploid
sets, it is called triploidy. If the cell has four haploid sets, it is called tetraploidy. (4)
What’s More
B. Deletion
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1. Make a model of a chromatid (one of the duplicated copies of a chromosome).
2. When done, remove a portion of it (close to either end of the chromosome or within
the long arm or short arm). If you choose to remove a part with the upper arms, make
sure to join back the bottom part.
3. Fill in the third column (deletion) of the table.
C. Inversion
1. Make a colored chromatid as shown in the illustration.
2.This time, break a portion (with 2 colors) of it. Refer to the illustration below.
3. Re-insert it to the chromatid in the reverse manner.
4. Fill in the fourth column (inversion) of the table.
Chromosomal Mutation
Questions:
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1. How do the three chromosomal aberrations different from each other? How do they
show similar?
2. Do you think the normal genetic content of the chromosome is affected?
3. Which condition results to gain of chromosome material? Loss of chromosomal
material?
4. What are some possible effects of these chromosomal mutations?
What I Can Do
Deletion
Duplication
Inversion
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Lesson 2: Assessment
Choose the letter of the best answer. Write the chosen letter on a separate sheet of
paper.
3. Which of the following is the result when a segment of a chromosome has been
copied?
4. Which of the following results that has an error in the DNA base sequence?
A. Deletion B. Inversion
C. Chromosomal Mutation D. Gene Mutation
A. Disjunction B. Translocation
C. Chromosomal Mutation D. Gene Mutation
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7. During the process of meiosis, part of one chromosome detaches and reattaches
to a different chromosome in the parent cell of an individual. Which of the following
is true regarding this mutation?
A. The mutation could get passed on to the individual’s offspring.
B. The mutation could cause cancer in the individual.
C. The mutation could affect the protein production of cells in the body.
D. The mutation will affect only the somatic cells in the body.
8. Which of the following identifies the type of chromosomal mutation that has
occurred on chromosome 18?
A. Inversion B. Translocation
C. Duplication D. Deletion
10. Which of these is the correct order for the chromosome mutation in the image
from top to bottom?
A. Duplication-Inversion-Substitution-Translocation
B. Deletion-Duplication-Inversion-Translocation
C. Deletion-Insertion-Translocation-Inversion
D. Substitution-Duplication-Translocation-Inversion
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Lesson
Diseases and Abnormalities
3 Caused by Mutation
What’s New
What is It
Genetic Disorders
According to the National Human Genome Institute, almost all disease has some
sort of genetic factor. These disorders can be caused by a mutation in a single gene,
multiple gene mutations, combined gene mutation, and environmental factors, or
by chromosome mutation or damage. Gene mutations have been identified as the
cause of several disorders including sickle cell anemia, cystic fibrosis, Tay-Sachs
disease, Huntington disease, hemophilia, and some cancers. (4)
a. Sickle Cell Anemia
Sickle cell anemia is a genetic disease common among those who are from
Africa. This genetic disease is the result of a point mutation where there is a change
in just one nucleotide in the gene for hemoglobin. The mutation causes the
hemoglobin in red blood cells to transform to a sickle shape when de-oxygenated.
Since the shape is altered, it cuts of blood circulation and clogs the capillaries.
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Figure 6. Difference between a sickle cell and a normal red blood cell. (6)
Two copies of the mutated genes cause sickle cell anemia, while having just one copy
does not. One copy of it in facts protects against malaria. This is an example of how
mutations can sometimes be advantageous. (5)
b. Cystic Fibrosis
Cystic fibrosis (CF) is a progressive, genetic disease that affects the secretory glands,
including the mucus and sweat glands. Cystic fibrosis causes persistent lung
infections and limits the ability to breathe over time.
Figure 7. Difference between a normal airway and an airway with cystic fibrosis. (7)
There is no cure for CF but treatments have greatly improved in recent years.
Medication, exercise, nutritional and respiratory therapies are some of the treatment
options. (5)
c. Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that causes progressive damage to the
nervous system and most commonly affects infants. It is mainly caused by the
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absence of a vital enzyme called hexosaminidase-A (Hex-A). Symptoms usually
appear between three to five months of age. The development slows down and they
gradually lose their ability to move. (5)
Tay-Sachs is a recessively inherited disease that only occurs when both parents carry
a Tay-Sachs gene and each parent transmits the defective gene to their child. A child
who inherits two Tay-Sachs genes (one from each parent) produces no functional
Hex-A enzyme and is certain to develop Tay-Sachs disease. The Tay-Sachs genes are
located on chromosome 15. (8)
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e. Down Syndrome
Down syndrome or trisomy 21 is the most common chromosomal disorder.
People with Down syndrome have 47 chromosomes in their cells instead of 46, and
suffer from mild to moderate disabilities. Delayed development and behavioral
problems are often reported in children with down syndrome. Common physical
traits include a flat face, small head and short neck, and upward slanting eyes. (5)
There are three main types of Down syndrome: trisomy 21, mosaicism,
and translocation. (10)
Trisomy 21 is the most common form of Down syndrome, accounting for
about 95% of cases.^11start superscript, 1, end superscript This type of Down
syndrome is caused by uneven separation of chromosome 21 during the creation of
sex cells (this can happen in either the sperm or the egg cell), which leads to a
fertilized egg with three copies of chromosome 21 instead of two. When the fertilized
egg is developed, it passes along the extra copy of chromosome 21 to every cell in the
body.
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Figure 11. Mosaicism
In the remaining 4% of cases of Down syndrome, the extra genetic material is
passed on to new cells in a slightly different way. Rather than failing to
separate, Translocation occurs when a portion of chromosome 21 breaks off during
the replication process, and then attaches to another chromosome.^11start
superscript, 1, end superscript So rather than getting a full extra chromosome,
translocation results in cells with the typical 46 chromosome, plus a little extra
chromosome 21. The genes contained in the extra portion of chromosome 21 can
cause many of the symptoms of Down syndrome. (10)
Even though people with Down syndrome might act and look similar, each
person has different abilities. People with Down syndrome usually have an IQ (a
measure of intelligence) in the mildly-to-moderately low range and are slower to
speak than other children. (13)
Some common physical features of Down syndrome include: (13)
1. A flattened face, especially the bridge of the nose
2. Almond-shaped eyes that slant up
3. A short neck
4. Small ears
5. A tongue that tends to stick out of the mouth
6. Tiny white spots on the iris (colored part) of the eye
7. Small hands and feet
8. A single line across the palm of the hand (palmar crease)
9. Small pinky fingers that sometimes curve toward the thumb
10. Poor muscle tone or loose joints
11. Shorter in height as children and adults
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Down syndrome is a lifelong condition. Services early in life will often help
babies and children with Down syndrome to improve their physical and intellectual
abilities. Most of these services focus on helping children with Down syndrome
develop to their full potential. These services include speech, occupational, and
physical therapy, and they are typically offered through early intervention programs
in each state. Children with Down syndrome may also need extra help or attention
in school, although many children are included in regular classes. (13)
f. Klinefelter Syndrome
Klinefelter syndrome also known as XXY condition is a chromosomal condition
that affects male physical and cognitive development. The most common symptom
of Klinefelter syndrome is infertility. Some common symptoms include small penis,
small firm testes, less pubic, armpit and facial hair, enlarged breasts, tall stature
and abnormal body proportions. (5)
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hormones and a constant feeling of hunger. It is caused by the loss of genes in a
specific region of chromosome 15. There is no cure for PWS, growth hormone,
exercise, and dietary supervision can help build muscle mass and control weight. (5)
h. Turner Syndrome
Turner syndrome (TS) is a rare chromosomal ailment that impacts girls. It is
associated with the x chromosome that alters development in women, even though
it isn't normally inherited in families. The most consistent functions of TS are brief
stature and lack of ovarian development. Most women with Turner syndrome are
infertile. (5)
k. Jacobsen Syndrome
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Jacobsen syndrome is a condition caused by a loss of genetic material
from chromosome 11. Because this deletion occurs at the end (terminus) of the long
(q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal
deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most
affected individuals have delayed development, including the development of speech
and motor skills (such as sitting, standing, and walking). Most also have cognitive
impairment and learning difficulties. Behavioral problems have been reported,
including compulsive behavior (such as shredding paper), a short attention span,
and easy distractibility. Many people with Jacobsen syndrome have been diagnosed
with attention-deficit/hyperactivity disorder (ADHD). Jacobsen syndrome is also
associated with an increased likelihood of autism spectrum disorders, which are
characterized by impaired communication and socialization skills.
Jacobsen syndrome is also characterized by distinctive facial features. These
include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids
(ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad
nasal bridge, downturned corners of the mouth, a thin upper lip, and a small
lower jaw. Affected individuals often have a large head size (macrocephaly) and a
skull abnormality called trigonocephaly, which gives the forehead a pointed
appearance. (17)
l. Klinefelter’s Syndrome
Klinefelter syndrome is a genetic condition in which a boy is born with an extra
X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so
this condition is sometimes called XXY syndrome.
Men with Klinefelter usually don’t know they have it until they run into
problems trying to have a child. There’s no cure, but it can be treated.
You get the extra X chromosome by chance. Either the egg or the sperm that
came together to create you had an extra X chromosome. Older women have a slightly
higher chance of having a boy with XXY syndrome, but the chance is small. (18)
Men with Klinefelter may have:
a. An extra X chromosome in every cell, which is the most common
b. An extra X chromosome in only some cells, called mosaic Klinefelter, in
which you don’t have as many symptoms
c. More than one extra X chromosome, which is very rare and more severe
Karyotyping
Karyotyping is a laboratory procedure that allows your doctor to examine your
set of chromosomes. “Karyotype” also refers to the actual collection of chromosomes
being examined. Examining chromosomes through karyotyping allows your doctor
to determine whether there are any abnormalities or structural problems within the
chromosomes.
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Chromosomes are in almost every cell of your body. They contain the genetic
material inherited from your parents. They’re composed of DNA and determine the
way every human develops.
When a cell divides, it needs to pass on a complete set of genetic instructions
to each new cell it forms. When a cell isn’t in the process of division, the
chromosomes are arranged in a spread out, unorganized way. During division, the
chromosomes in these new cells line up in pairs.
A karyotype test examines these dividing cells. The pairs of chromosomes are
arranged by their size and appearance. This helps your doctor easily determine if any
chromosomes are missing or damaged.
Why is the test useful?
An unusual number of chromosomes, incorrectly arranged chromosomes, or
malformed chromosomes can all be signs of a genetic condition. Genetic conditions
vary greatly, but two examples are Down syndrome and Turner syndrome.
Karyotyping can be used to detect a variety of genetic disorders. For example,
a woman who has premature ovarian failure may have a chromosomal defect that
karyotyping can pinpoint. The test is also useful for identifying the Philadelphia
chromosome. Having this chromosome can signal chronic myelogenous leukemia
(CML).
Babies can be karyotype tested before they’re born to diagnose genetic
abnormalities that indicate serious birth defects, such as Klinefelter syndrome. In
Klinefelter syndrome, a boy is born with an extra X chromosome.
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What’s More
What I Can Do
1. Chemical Factors
Certain man-made chemicals have been known to cause mutations, in most
cases by revising the basic chemical composition of a cell's DNA. Ethyl methane
sulfonate, a compound used in laboratory research, affects the way that one of DNA's
four component bases behaves chemically, resulting in mutant cells with sequences
of DNA different from the parent cells. Benzopyrene, a component of cigarette smoke,
and vinyl chloride, an ingredient in plastics, affect DNA similarly.
2. Radiative Factors
Our world contains different kinds of radiation, both occurring naturally and
resulting from human activity, that also encourage mutations. Ultraviolet radiation
from the sun creates bonds between bases that otherwise would not exist, causing
the cell to synthesize abnormal proteins when that section of DNA is read. Ionizing
radiation, such as that emitted as X-rays, breaks strands of DNA apart, which can
lead to mutations when the cell tries to repair its DNA using free-floating molecules.
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3. Biological Factors
Similar to chemicals and radiation, biological agents can cause mutations by
attacking DNA's structure. Retroviruses like HIV can insert their genetic material
into a host cell's DNA. But some viruses and bacteria also produce mutations less
directly. The long-lingering hepatitis B virus can make the body secrete defensive
chemicals that, over time, cause mutations, while the prolonged cell damage and
ongoing repair resulting from Helicobacter pylori infections may increase mutations
in cells lining the stomach.
4. Identifying Factors
To identify substances that may cause mutations, several biochemical tests
exist, including one that has been in use since 1973. That year, scientist Bruce Ames
demonstrated that a kind of Salmonella bacteria would grow only in the presence of
mutation-causing materials. The Ames test, in which substances are exposed to this
strain of Salmonella, is still used to identify mutagens today. (14)
Question
Among the four factors affecting mutations, choose one factor which you think
affects the majority of mutations observed nowadays. Explain your choice.
Lesson 3: Assessment
Choose the letter of the best answer. Write the chosen letter on a separate sheet of
paper.
1. A woman with one gene of hemophilia and one gene of color blindness on one of
the X chromosomes marries a normal man. How will the progeny be?
A. 50% hemophilic color-blind sons and 50% color blind daughters
B. 50% hemophilic and color-blind sons and 50% normal sons
C. All sons and daughters are hemophilic and color blind
D. Hemophilic and color-blind daughters
6. The syndrome in which individual somatic cell contains three sex chromosomes
XXX is called:
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A. Downs syndrome B. Klinefelter’s syndrome
C. Turner’s syndrome D. Super female
7. A man has enlarged breasts, spare head on body and sex complement as XXY.
He suffers from:
A. Edward’s syndrome B. Turner’s syndrome
C. Down’s syndrome D. Klinefelter’s syndrome
8. In a man, which of the following genotypes and phenotypes may be the correct
result of aneuploidy in sex chromosomes?
A. 22 pairs + Y females B. 22 pairs + XX females
C. 22 pairs + XXY males D. 22 pairs + XXXY females
9. In a family, a father is having a disease and the mother is normal. The disease is
inherited to only daughters and not to the sons. What type of disease is this?
A. Autosomal recessive B. Autosomal dominant
C. Sex linked recessive D. Sex linked dominant
Answer Key
28
Lesson 1 Lesson 2
Assessment Assessment
1. A 1. C
2. A 2. B
3. A 3. C
4. D 4. D
5. B 5. C
6. D 6. C
7. C 7. A
8. D 8. B
9. A 9. C
10. D 10. B
Lesson 3
Assessment
1. B
2. C
3. C
4. A
5. A
6. D
7. D
8. C
9. D
10. B
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