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One Last Annoying Thing for This Class

Table of Contents
Module 1
● Has Quiz 1 & 2 → Central dogma & RNA DNA
Module 2
● Transcription, no quizzes or hw from this module
Module 3
● What is a gene, HW #1 & quiz 3
Module 4
● Chromosome structure and meiosis quiz 4
Module 5
● Transmission, segregation alleles, mendel’s law. Has Hw 2
Module 6
● Probability and stats has Hw 3
Module 7
● Has quiz 5, linkage and sex linkage
Module 8
● Pedigree has quiz 6
Module 9
● Protein structure, has the blast go HW 4 and essays
Module 10
● Simple mutations has lactase quiz and quiz 7
Module 11
● Allele and dominance has hw 5 and quiz 8
Module 12
● Chromosome mutation, karyotyping & has quiz 9
Module 13 ing
● Oligogenic inheritance, epistasis. Has hw 6, optional reading essays.
Module 14
● Quantitative genetics has quiz 10
Module 15
● Polymorphism has quiz 11
Module 16
● Linkage disequilibrium, deletion mapping, has hw 7
Module 17
● Has quiz 12 & discusses Gene mapping like QTL and haplotypes
Module 18
● Population genetics. Has mice case study
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Module 1
Lacy quiz 1:
1) RNA molecules can serve many different functions, but they are never used as a genome. F
2) RNA molecules that exhibit catalytic activity are called. Ribozyme
3) sn, mi, si and pi RNA molecules are non-coding RNA because: They are never translated
4) During DNA synthesis the __________ (C position). 3’ OH reacts with the 5’ phosphate of incoming
deoxynucleotide.
5) Successive sugars of a DNA chain are joined by. I PUT: hydrogen bonds between the complementary
bases. BUT THE CORRECT ANSWER IS: phosphodiester bonds between the 3’ hydroxyl of one
nucleotide and the 5’ phosphate of the next.
6) The nitrogenous bases are attached to. Carbon 1

7) Which is the incorrect bond in the molecule? C


8) Which of the carbon in the ring carries a OH group in deoxyribose. 3’
9) One of the carbon of the sugar is outside the ring. It is Carbon # 5’

10) Which is the incorrect bond in the molecule? A


Jo Quiz 1 different questions:
1) Which of the following are coding RNA? None
2) Secondary and tertiary RNA structures can be very complex True
3) The difference between deoxyribose and ribose is the presence or absence of a OH group at carbon position
_____________. (2', 2, 2 prime)
4) The DNA backbone is formed by the ____ and the ________. D. The deoxyribose and phosphate group.
5) What is the charge of DNA? Negative
6) In the double helix, the bases are held together by: Hydrogen Bonds
7) By convention the sequence of a DNA strand is always written in the ____________ direction. 5’ to 3’

Notes on subject:
Genetic code
2
Table summarizing connection between codon and amino acid NOT the genetic makeup.
Unambiguous 1 codon= 1 amino acid, redundant degenerate 1 amino acid=more than 1 codon, universal.
Wobble Hypothesis: In many codons, the third position can be changed without affecting the amino acid attached to
the tRNA: this is the Wobble hypothesis.

Lacy Quiz 2:
1) What is one of the evidence that suggested the existence of an intermediate molecule between DNA and
proteins? Proteins are synthesized outside of the nucleus, and only some genes ultimately code for
proteins. Central dogma followed the flow of genetic information within cells.
2) The following enzymes are responsible for which process within the central dogma. Matching: 1)Reverse
Transcriptase~ Reverse Transcription 2)DNA dependent-RNA polymerase~Transcription 3)DNA
dependent-DNA polymerase~ Replication
3) An enzyme called __________ can produce a complementary DNA strand from an RNA template. Reverse
transcriptase
4) Cite the three main processes included in the original central dogma. DNA replication, RNA transcription,
Protein translation
5) The codons GGG, GGA, GGC and GGU all code for the amino acid glycine. This illustrates which of the 3
properties of the genetic code? Redundancy, degenerates. More than one codon can "code" for the same
amino acid
6) The ability to express a human protein in bacteria is related to which of the 3 properties of the genetic code?
Universal. The third property, universally true (with few exceptions). Other organisms have same
codons for amino acids
7) The genetic code contains _____ (number) special codons with no amino acid correspondance. These codons
are known as ______________ codons. 3, stop.
8) If the anticodon has the sequence 5' AGC 3' , which codon would it recognize? Write the sequence in correct
notation. GCU (5' 3'). 5' GCU 3', GCU, 3' UCG 5'
9) One can deduct the amino acid sequence encoded by a segment of DNA irrespective of the species of origin
because the genetic code is ___________________ (one of the 3 properties). Universal
10) The genetic code is considered unambiguous because. one codon always specify the same amino acid
Jo quiz 2 different questions:
1) What is the central dogma of molecular biology? Describe briefly at least 3 of the processes included in the
modern central dogma. During DNA replication, DNA is copied into another DNA molecule.
2) The genetic code contains _____ (number) special codons with no amino acid correspondance. These codons
are known as ______________ codons. 50%, 3 (stop)
3) The DNA sequence of a gene can change without changing the amino acid sequence of the encoded protein
because of ________________ property of the genetic code. (redundant, degenerate)
4) Cite the three main properties of the genetic code. (universal, redundant, unambiguous)
5) Select the reason(s) that allow relaxation of base pairing between codon and anticodon base pairing can
happen between A and G, as well as G and U and in the anticodon sequence. the nitrogenous bases are
attached to the 2' C of the ribose
Notes on subject:
Central dogma
DNA → RNA → protein
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Module 2

Module 3
Lacy quiz 3:

1) In the diagram below the D region represents The RNA coding


region
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2) In the diagram below the A region represents The basal promoter


3) In eukaryotic genes, the coding region can be further divided into segments that are removed from the mature
RNA known as_(1)_ and segments that are preserved in the mature RNA known as (2). 1) I put protein
coding region but THE ANSWER IS INTRON and 2) exons
4) Introns within primary eukaryotic transcripts (check all that apply). I didn’t check all of the options but they
are: Are joined to form mature RNA, Have very precise borders known as splice sites, Are found only
in protein coding genes

5) In the diagram below region C represents The Protein Coding


Region
6) It is possible for a given segment of DNA to actually belong to different gene entities. T
7) In the image, the negative numbers represent the _______________(upstream/downstream) region.
Upstream
8) What is the broadest definition for a gene? A segment of DNA that can be translated
9) Explain the difference between the RNA coding region of a gene and the protein coding region. The protein
coding region directly provides information for the amino acid sequence. The coding region includes
the protein coding region and the 5' and 3' untranslated regions (UTR).
Jo quiz 3 different questions:
1) UTRs are parts of the mature transcripts: FALSE
2) The RNA coding region of a gene refers to: The entire transcribed region of a gene
3) What is a non-coding gene? A gene that codes for an RNA molecule that is never translated.

Module 4
Lacy quiz 4:
1) The figure below shows the cell of an organism with two pairs of homologous chromosomes. One pair carries
two genes A and D; the other pair carries one gene (G). Each gene presents two variations, represented as
A/a, D/d, and G/g. This cell now undergoes meiosis. Indicate at the end of meiosis, all the possible gametic
distribution of chromosomes for the two pairs, indicating the variations for the three genes.

I put a whack answer, BUT THIS IS THE CORRECT ONE: [Ad,G],


[Ad,g], [aD,G], [aD,g] and if you include recombination [AD,G], [AD,g], [ad,G], [ad,g]
2) Somatic cells of the red fox, Vulpes vulpes, normally have 38 chromosomes. What is the number of
chromosomes present in each nascent nucleus in telophase of meiosis II? 19, 19 chromosomes
3) A diploid somatic cell from a rat with a total of 42 chromosomes undergoes meiosis. What is the total number
of chromosomes in one of the resulting cells after meiosis I? 21 chromosomes.
5
4) A diploid somatic cell from a rat with a total of 42 chromosomes undergoes meiosis. What is the total number
of DNA molecules in one of the resulting cells at the end of meiosis II? I said 84 but the answer IS 21
chromatids
5) A diploid somatic cell from a rat with a total of 42 chromosomes undergoes meiosis. What is the total number
of DNA molecules in one of the resulting cells after meiosis I? 42 chromatids
6) Indicate the two events which take place during prophase of meiosis I but not during prophase of mitosis.
Synapsis and recombination
7) During meiosis, sister chromatids separate during anaphase I. F

8) The name of the image shown below I PUT chromosome painting, BUT THE
CORRECT ANSWER is karyotyping
9) Which of the following is incorrect when comparing the homologous chromosomes of one pair? The two
chromosomes arise from DNA replication
10) Each unreplicated chromosome contains __________ double stranded DNA molecule with average length in
the _________________ base pairs. 1, million
Jo quiz 4 different questions:
1) Homologous chromosomes can be recognized based o: A, B and C (Position of centromere, total length,
number of bands on intebands)
2) A chromosome with its centromere in the middle is a_______________ chromosome. Metacentric
3) Following meiosis I, each daughter cell contains half the number of chromosomes found in the nucleus of the
original diploid cell undergoing meiosis. TRUE
4) All of the following make meiosis different from mitosis, EXCEPT: meiosis only occurs during embryonic
development
5) If an organism has the genotype Aa, Bb, Dd, Ee, the following aneuploid gamete a, B, Dd, E is the result of
nondisjunction at: (specify stage and either meiosis I or II) metaphase I, metaphase meiosis I
6) During meiosis, sister chromatids split during __________ . Specify stage and either meiosis I or II. (anaphase
II, anaphase meiosis II, anaphase 2 meiosis 2)

Module 5

Module 6
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Module 7
Lacy quiz 5:
1) In a germline cell (future gamete) from a human male that is dividing, when do the X and Y chromosomes
separate? Meiosis I, anaphase
2) Because males only have one copy of all genes carried on either the X or Y chromosomes, they are neither
homo- nor heterozygous for these alleles. Instead they are ____________. Hemizygous
3) A Drosophila female with large eyes and curled bristles is crossed with a male with small eyes and straight
bristles. What would be the reciprocal cross? A male with large eyes and curled bristles crossed with a
female with with small eyes and straight bristles
4) X and Y chromosomes are able to synapse at prophase I at the level of. the pseudoautosomal region
5) A female heterozygous for a gene carried on the X chromosome (X M Xm) will produce two types of gametes,
one carrying Xm and the other XM , as such this female would be considered heterogametic. F
6) Red-green color blindness is X-linked recessive. A woman with normal color vision has a father who is color-
blind. The woman has a child with a man with normal color vision. Which phenotype is NOT expected? Color
Blind female
7) Two characters are examined in Drosophila melanogaster, one affecting the color of the body (grey and
yellow) and one affecting the size of the wing (long and vestigial). The following F2 data are obtained from a
dihybrid cross: identify which character is on the X chromosome.
305 female grey body, long wing
108 female grey body, vestigial wing
152 male grey body, long wing
170 male grey body, vestigial wing
48 male yellow body, long wing
58 male yellow body, vestigial wing Color of the body
8) The alleles for eye color and for body color are on the X chromosome of Drosophila, but not on the Y. Red eye
color (w+) is dominant to white eye color (w), and tan body color (y+) is dominant to yellow body color (y).
(a) What is the genotype of a tan-bodied, white-eyed female who is heterozygous for body color? Indicate your choice
from the table below.
A.

B.

C.

D.

E.

(b) Assuming that the two genes are VERY close to each other and there is no recombination, what offspring would
you expect from a cross between the female Drosophila described above and a male who is both red eye color and
yellow body color? Indicate yes or no for each possible class of progeny; for example: class #1: YES
1. Daughters would be yellow-bodied, red-eyed
2. Daughters would be tan-bodied, red-eyed
3. Daughters would be yellow-bodied, red-eyed
4. Daughters would be yellow-bodied, white-eyed
5. Sons would be yellow-bodied, red-eyed
6. Sons would be tan-bodied, red-eyed
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7. Sons would be yellow-bodied, white-eyed
8. Sons would be tan-bodied, white-eyed
a) choice E Xwy+ Xwy
b)
1. no
2.yes
3.no
4.no
5.no
6.no
7.yes
8.yes
Jo quiz 5 different questions:
No different questions.

Module 8
Lacy quiz 6:
1) In a pedigree, roman numerals indicate the _________________ number. Generation
2) In a pedigree, heterozygous individuals for a recessive trait are known as. Carriers
3) Which rule does apply in this pedigree? Explain your answer.

Rule #3 I1 dad and II4 daughter


eliminate x-linked dominate
Rule #4 II2 mom with III4 and III6 unaffected sons eliminate x-linked recessive
Not y-linked since I1 dad has II2 daughter
Rule #2 II5&6 have III9 daughter meaning not autosomal recessive. HER RESPONSE: Rule #2 II5&6 have III9
daughter meaning not autosomal recessive: It is child III8, not III9 which matters for rule #2
4) In this pedigree, which parent-child pair allows you to eliminate recessive X-linked as an inheritance pattern? if
there are more than one pairs, just pick one possibility. Specify generation and number. Indicate parent in first
blank, and child in second blank
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III 6 dad, IV 1 and IV 2


daughters
5) For the following human disease, identify the most likely pattern of inheritance. Is it dominant or recessive? Is it
autosomal or X-linked? Justify briefly

Recessive. Rule #1 I1 and I2 have affected children with unaffected


parents meaning not dominant, and Rule 3 II1 has III1 daughter meaning eliminate x-linked dominant too. It
could be autosomal recessive, but since none of the females are affected it means it could be a y-linked
mutation. HER COMMENT: "It means it could be a y-linked mutation", but then dad I1 should also be affected.
It is recessive, but you do not address thoroughly whether it is X-linked or autosomal
6) The pedigree below is compatible with both a dominant or a recessive pattern. Explain the reasoning used that
enables geneticists to favor a dominant pattern.

It's not y-linked since


females can be affected meaning that when looking at generation II combinations of two unaffected parents if
they produced affected children it would follow rule #1 ruling out autosomal dominant, but they all produced
unaffected children. And both children of II5&6 follow rule #4 that allow the elimination of it being x-linked
recessive, while the example that follows rule #3 II 3 and II4 has children III3 and III5 follow it has III4 that
doesn't perfectly match up. HER COMMENT: I already tell you that neither dominant or recessive can be
eliminated. So looking or rules is unnecessary here.remember that the correct analysis involves using the
rules to eliminate patterns; i.e. a parent-child pairs that contradict the rule. A rule that applies, means nothing.
the pattern could be valid or not. The most relevant part of the analysis that you missed is the number of
carriers necessary if the disease is from a recessive allele.
Jo quiz 6 different questions:
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1.
This pedigree is for a dominant autosomal disease (dark symbol). Which individual is adopted?
IV9

2. State rule #2 regarding two affected parents:


2 affected parents with unaffected children cannot be a recessive trait.

3.
Which rule does apply in this pedigree? Explain your answer.
Be careful, the term is "dominANt, not dominate
Incorrect reasoning: " I1 father is male with phenotypic interest making X- linked dominate". The fact that a
male is affected, does not make a disease automatically X-linked.

You missed the critical one: rule # 2: 2 affected parents with non affected children means the disease allele is
dominant: II5-6 and III8

4. In this pedigree, which parent-child pair allows you to eliminate dominant X-linked as an inheritance pattern? if
there are more than one pairs, just pick one possibility. Specify generation and number. Indicate parent in first blank,
and child in second blank

II2 is a female, not dad

Also possible I1 with II4


10

5.
For the following human disease, identify the most likely pattern of inheritance. Is it dominant or recessive? Is it
autosomal or X-linked? Justify briefly?
No affected daughters (rule 3) rule 3 includes the fact that the father must be affected. No rule 3 in this
pedigree.
Invalid argument: " there are parents passing the illness down, could make the disease autosomal. " why not X-linked?

6.
The pedigree below is compatible with both a dominant or a recessive pattern. Explain the reasoning used that
enables geneticists to favor a dominant pattern.
remember that the correct analysis involves using the rules to eliminate patterns; i.e. a parent-child pairs that
contradict the rule. A rule that applies, means nothing. the pattern could be valid or not.
The most relevant part of the analysis that you missed is the number of carriers necessary if the disease is from a
recessive allele.

Module 9
11

Module 10
Lacy quiz 7:
1) Trinucleotide mutations often produce ______________________ where the age of onset for the disease
becomes younger at each generation. I wrote Huntington’s disease BUT THE CORRECT ANSWER is
Anticipation
2) A promoter DOWN mutation is a mutation. Leading to less transcription of the gene
3) Provide the description of a possible mutation type for the following observed phenotype resulting from a
mutation in a coding gene: A protein with normal shape, in a normal amount, but no enzymatic activity. I SAID:
Loss of function mutation: the amount stays the same, but enzymatic function or protein function is
lost like PKU disease. BUT HER COMMENT WAS: Potentially a point mutation that occurred in the DNA
sequence that encodes for a mutant amino acid in a domain/region important to proper enzyme
function. For example, a polar amino acid is replaced by a mutant non-polar amino acid, a non-
conservative mutation.
4) A mutation where the normally encoded product of the gene (RNA or protein) is no longer produced or is non-
functional. I SAID nonsense mutation, BUT THE CORRECT ANSWER IS loss of function
5) A mutation due to exposure to a chemical or physical agent (UV, radiation) is called an ____________
mutation. Induced
6) Mutations are random and can affect any parts of the genome. T
7) Adding or removing nucleotides in non-multiple of three within the 5' UTR causes a frameshift mutation. I SAID
true BUT THE CORRECT ANSWER IS F
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8) A missense mutation leads to the replacement of one amino acid for another. T
9) A mutation where a single base is replaced by another one. Substitution
10) Addition or removal of nucleotides in multiple of three are known as. Insertion/Deletion in-frame mutation.
Jo quiz 7 different questions:
1) Mutations that change the protein amino acid sequence without affecting the phenotype of the organism are:
Neutral mutations
2) In trinucleotide repeats, a disease phenotype is linked to an increase of the number of repeats over a specific
threshold: TRUE
3) A gain of function mutation can result from: Transcription of the gene being activated at the wrong time,
Transcription of the gene being activated in the wrong cells, Translation of the protein being increased

4) Changing the sequence from a serine to a threonine would be best


classified as. Conservative missense
5) Changing the splice consensus sequence will most probably. Prevent RNA splicing

6) Changing the sequence from a tryptophan to a stop would be best


classified as: Nonsense
7) Spontaneous mutations result from natural changes in DNA structure. True

Module 11
Lacy quiz 8:
1) The notation A1>A2>A3>A4 represents an _________________ series. Allelic
2) Dominance of an allele is a measure of strength and can only be established in a _________________
organism. Heterozygous
3) A lethal allele can be either dominant or recessive to the wild type allele for the lethality phenotype. T
4) Imagine the following mutations in a gene encoding a protein 249 amino acid long: After predicting the effect at
the protein level, organize these alleles in order of their effects on the phenotype when homozygous, from least
affected to most (allelic series). Write one sentence for each allele to explain the effects of the mutation on the
amount and function of the protein
# 1: a frameshift +2 after the 15th codon.
# 2: a missense mutation in codon 39, which weakens an ionic bond essential for the protein tertiary structure.
# 3: a missense mutation, which does not affect the enzyme's activity
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# 4: a nonsense mutation which renders the protein shorter by 10 amino acids and functional at 95%. From least to
most: 4 3 2 1
2 and 1 could be equal, because 2 will most likely not have a protein present either. #4 You still have 95%
activity, so normally functioning.
#3 Mostly normal, but slightly less activity with only 80% activity
#2 the protein may still be present, but misfolded and unstable. Meaning less protein with little to no activity.
#1 Protein will most likely not be present. HER COMMENT~ #3 is not affected, whereas #4 is very mild; so 3>4
most probably
5) Describe briefly how at the molecular level different alleles of the glycosyltransferase enzyme can create A or
B phenotypes. Include a short explanation of why the A and B alleles are considered COdominant.
Codominance is when one allele doesn't mask the expression of the other allele; 2 different alleles are
expressed such as iA and iB. Enzyme activity is determined by the amino acid sequence and small
changes that change the active site and function of either A or B. They are haplosufficient alleles.
6) Palomino horses have a golden yellow coat while chestnut have brown and cremello almost white coats
respectively. The following crosses produce the following offspring:
crosses offspring
palomino X palomino 13 palomino, 6 chestnut and 5 cremello
Indicate the ratio of phenotypes in the progeny and deduct the most likely pattern of inheritance
1/2:1/4+¼. Palomino>chestnut>cremello
Palomino cremello X palomino cremello = genotype of parents since cremello is the most recessive trait. HER
COMMENT with your answer how do you get chesnut?
7) A child who is blood type A has a mother who is blood type B. In a paternity dispute a man is accused of being
the father. He has blood type AB. Can he be the father? Yes
8) Given the following allelic series: blue > green >turquoise, indicate the genotype of each parent in the following
cross. Use B, G, and T for the alleles. Pars: blue X green progeny: 1/2 blue: 1/4 green + 1/4 turquoise
BT X GT.
turqoise is the most recessive and so both parents must carry an allele for any of the progeny to show a
turqoise phenotype
9) The activity of an enzyme is presented in the following graph. This pattern indicates that:

. B & C: The mutant allele is a loss of function, The normal allele is


haploinsufficient.
Jo quiz 8 different questions:

1) When a gene is involved in governing multiple characters, it is referred to as a ________________ gene:


(Pleiotropic, pleiotropy, pleiotropic genes)
2) Explain the concept of haploinsufficiency. the copy of the gene is not sufficient enough to produce
enough protein to perform function at the wild type level which causes haploinsufficiency.
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3. Imagine the following mutations in a gene encoding a protein 249 amino acid long: After predicting the effect at the
protein level, organize these alleles in order of their effects on the phenotype when homozygous, from least affected
to most (allelic series). Write one sentence for each allele to explain the effects of the mutation on the amount and
function of the protein

# 1: a frameshift +2 after the 15th codon.

# 2: a missense mutation in codon 39, which weakens an ionic bond essential for the protein tertiary structure.

# 3: a missense mutation, which does not affect the enzyme's activity

# 4: a nonsense mutation which renders the protein shorter by 10 amino acids and functional at 95%

In order from least to most affected: 4 , 3 , 2, 1

#1 there is likley no present protein


#2 and #1 would not likely have a protein
#3 normal for the most part, but would have less activity
#4 would have almost full function since most actively is there
#2 the protein is present but, there is an issue in the structure of the folding making it unstable

4. In the multiple allele series that determines coat color in rabbits, C+ > Cch > Ch, dominance is from left to right as
shown. In a cross of C+Ch X CchCh, what ratio of progeny will be Himalayan (Ch Ch)?
1:2:1

5. Given the following allelic series: blue > green >turquoise, indicate the genotype of each parent in the following
cross. Use B, G, and T for the alleles. Parents:blue X green progeny: 1/2 blue: 1/4 green + 1/4 turquoise
It would be BT x GT since turquoise is greatest in recessives so, both parents must carry the allele for turquoise
expression

6. You cross two ornamental plants each of which have purple leaves. In the progeny, you find 20 purple plants and
9 white plants. You self-fertilize the white F1 plants and find that all their progeny are white. You self-fertilize the
purple F1 plants and find that progeny from each consists of purple and white plants in the approximate ratio of 2:1.
Which behavior of the purple and white alleles explains the data?
Homozygous purple plants are dead
15

Module 12
Lacy quiz 9:
1) Explain briefly the gene dosage effect. When chromosome rearrangements lead to extra copies or less
copies of normal genes, the amount shift leads to phenotypic defects because a different amount and
product is being produced as a result. There needs to be a specific ratio of genes working together.
HER COMMENT: because proteins often interact with each other or with other components of the cell
(DNA, RNA, membrane, etc..) the ratio between proteins is critical to maintain proper pathways and
regulatory processes.
2) Repeated sequences can lead to many chromosomal rearrangements following _______________ of two
repeats and ____________ ____________ ____________ (3 words). I FUCKED THIS QUESTION UP and
wrote duplication, trisomy, anueploidy polylpoidy, BUT THE CORRECT ANSWER IS: mispairing
misalignment and unequal crossing over.
3) Individual with balanced translocations are usually viable but very often are identified because they are
______________. Sterile, I PUT: reciprocal, and at risk of producing gametes with unbalanced
combinations of chromosomes.
4) If a translocation breakpoint/new position is close to or within gene(s), a new ______________ gene can be
created. Hybrid.
5) An aneuploid karyotype with 2n+1 is called a. Trisomy
6) A chromosome rearrangement in which the linear order of a group of genes is the reverse of the normal order.
Inversion
7) Identify the chromosome aberration that changes the position of genetic material within a chromosome without
altering the amount of genetic material carried by the chromosome. I PUT translocation, BUT THE
CORRECT ANSWER IS inversion
8) EUploidy is. I PUT The addition of an extra copy for a particular chromosome, BUT THE CORRECT
ANSWER IS A chromosome number that is an exact multiple of the haploid number
9) Identify the chromosome aberration that decreases the genetic material on a particular chromosome.
Deletions
Jo quiz 9 different questions:
1. If a translocation breakpoint/new position is close to or within gene(s), a new ______________ gene can be
created:
HYBIRD gene
2. Cite three chromosomal rearrangements:
duplication, deletion, inversion)
3. An event in which the centromeric regions of two nonhomologous acrocentric chromosomes become
fused to form a singular centromere is known as a(n)
Robertsonian translocation
4. Monosomy and trisomy are the result of _______________ ____________ (2 words) during either meiosis I
or II
(chromosome, homolog, homologous chromosome) and non disjunction, non-disjunction,
nondisjunction)
5. The general term to describe a change in the number of copies for a given region of a chromosome
copy number variation, copy number polymorphism)
6. Repeated sequences can lead to many chromosomal rearrangements following _______________ of two
repeats and ____________ ____________ ____________ (3 words)
mispairing, misalignment, unequal crossing over
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7. Some forms of Down syndrome have been found to run in families. Explain the genetic basis for this
inherited form of the condition:
She marked this wrong and gave no response

Module 13

Module 14
Lacy quiz 10:
1) Problem: Consider a complex trait in which the phenotype values are distributed according to a normal
distribution with mean of 100 and a standard deviation of 15. What percentage of the population would have a
phenotypic value above 130? 2.5%
2) Explain why a threshold trait can be considered a special case of continuous variation. I PUT: Although a
threshold trait refers to something like diabetes where there is only affected or not affected, each
person has a liability or predisposition to getting that trait. And that liability is a continuous trait where
only after a certain cutoff or threshold does the affected phenotype appear. Being prone to it is the
continuous aspect of the trait. HER COMMENT: I would have liked to read the idea of polygenic
contribution to the liability phenotype. Because many variants at different genes are involved, it is their
additive/dominance/interaction that makes the liability a continuous trait.
3) Distributions A and B in the figure below have
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different means and different variances


4) The genotypic variance of the F1 progeny of a cross between two true-breeding lines equals. Zero
5) In a twin study of a complex disease, to establish that there is a strong genetic contribution, you need: I didn’t
select all of the options which include~ High concordance value for monozygotic twins, A correlation
coefficient of one, High concordance value for dizygotic twins
6) Given a normal distribution, what percentage of the population has a phenotype within two standard deviations
of the mean? 95
7) The genetic variance is. differences in genotypes between members of a population
Jo quiz 10 different questions:

1. Using the enclosed graph, explain how a continuous variation can arise in a polygenic trait.
Even though characteristics with only a few firm prototypes are discontinuous;
characteristics with blended prototypes are considered continuous. In regards to the graph, as the number of genes
increases, so does the number of possible combinations and phenotype classes.

2. The variance of a distribution is:


differences in genotypes between members of a population
3. Indicate the three components of genetic variance
additive, dominance, interaction
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4.
In the graph below, which part of the figure represents the phenotypic variance
Y axis
5.Problem :
Two highly inbred tobacco plants are crossed. One has dark green leaves. The other has yellow leaves. The F 1 have
light green leaves, intermediate between the two parents. Five hundred progeny from F1 X F1 crosses are analyzed.
Their leaves show continuous variation in color, but none has dark green or yellow leaves. What do these data
suggest about the number of genes determining this trait?

There are many more than 3 genes that determine this trait

Module 15
Lacy quiz 11:
1) Microsatellites are composed of. Possibly hundred repeats, each 3-4 base pairs long found in clusters
2) Look at the figure below. A RFLP is found where the internal MstII site is polymorphic. Indicate the length of all
the restriction fragments present in a heterozygous organism.

. 1.4 kb : 1.2 kb and 0.2 kb


3) The same VNTR DNA is found at multiple genomic positions. F
4) SNP stands for. Single Nucleotide Polymorphism
5) What are copy number variation? a polymorphism where a segment of a chromosome may be either
deleted or duplicated
6) The initials FISH stand for. Fluorescence in situ hybridization
7) The protocol known as comparative genomic hybridiztion can be used to identify ____________
____________ ____________ in a genome. indel (deletion or duplication)
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8) Microsatellites are also known as _____________ ____________ ___________ 3 words (no initials). simple
sequence repeats.
9) Explain when a change in the DNA sequence is called a polymorphism rather than a mutation. When a
particular change in DNA is present in at least 1% of the population. If it is below 1% it is considered a
mutation. At a molecular level they're the same and there is no rigorous way to distinguish between
them, but in the context of frequency in a population.
Jo quiz 11 different questions:
1. Explain what is the basis for length polymorphism in satellite regions
A repeated pattern can be between 1 base pair long to several thousand base pairs long where variation in the length
of the repeat is common."

- A repeated pattern cannot be 1 base pair long.

- In satellite regions the repeats are always very short.

-The variation is not in the length of the repeat. The variation is in the NUMBER of repeats, and consequently the
length of the entire genomic region.

2. The protocol known as comparative genomic hybridiztion can be used to identify ____________ ____________
____________ in a genome.
copy number variation, copy number polymorphism, insertion and deletion, indel)

3. The initials FISH stand for


Fluorescent in situ hybridization)
4. The same VNTR DNA is found at multiple genomic positions
TRUE

5.
(1.4, 1.2, and 0.2 kb)

6.
When you look at the results below, which kind of information are you being provided with?
Detecting SNP by DNA sequencing (standard sequence chrotomagrahm), and could also be looking to detect
heterozygous
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Module 16
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Module 17
Lacy quiz 12:
1) Within a population the “non-random association of alleles at different loci” on a chromosome segment is
known as: Linkage disequilibirum
2) Which genetic process can render haplotypes shorter and over time possibly completely disrupt them?
Recombination
3) The LOD score estimates. The probability that a DNA polymorphism is associated with a gene for a trait.
4) On the image included above, the X axis represents. There's no image provided above so I don't know
what the axis represents. THE CORRECT ANSWER IS: the position of markers along chromosome(s)
5) WGA studies. I PUT: Aim to identify a species’ genetic variation, e.g. number of SNPs in a genome, BUT
THE CORRECT ANSWER IS: Aims to identify DNA polymorphisms associated (co-segregating) with
particular phenotypes (diseases and others).
6) The non-random association of alleles at different loci occurs because of the lack of recombination and is
known as linkage ____________________. Disequilibirum.
7) In GWA studies, the analysis is geared towards identifying molecular markers that are __________ genes
involved in a disease. Associated with
8) The diagram below represents the variants for different genes/molecular markers on a particular chromosome
segment that stay linked over time. This is better known as a ________________

. I PUT association, BUT THE CORRECT ANSWER is haplotype


9) Explain how the included image support the fact that GWA studies look for association and not linkage.
linkage is associated with inheritance, but association is showing a same chromosome of different
individuals apply to the same disease to try to explain the connection. Sometimes phenotypes differ
and can;t be explained with linkage.
Jo quiz 12 different questions:
1) The initials LOD stand for ______________ ___ __________. Log of the odds
2) In WGAS, the “A” stands for: Association
3) Which genetic process can render haplotypes shorter and over time possibly completely disrupt them?
(crossing over, recombination)
4) Linkage disequilibrium can be explained as: The persistence of linkage over time between alleles at
markers within a DNA segment
5) The LOD score is a statistical value evaluating the ratio between probability of ___________ or probability of
_______________ Linkage, independent assortment
6) The protocol of QTL mapping is performed to identify. Regions of the genome where the genes involved in
the phenotype might be located.
Notes for the subject:
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Crossing over occurs during Prophase Of Meiosis I, it is the exChange Of DNA Between Two Homologous
chromosomes.

Module 18
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