Question 1

How can microarrays differentiate between a wild-type allele and a disease allele that differ at only one nucleotide?

Accepted Answer

A)  The DNA sequences of both alleles are determined.
B)  Oligonucleotides hybridize with the two alleles differently.
C)  Polymerase chain reaction primers amplify DNA from one allele, but not the other.
D)  Microarrays are not capable of detecting a difference between those alleles.E) A) and D)
F) C) and D)

Question 2

Given that an individual is a compound heterozygote at the CFTR locus, the gene that causes cystic fibrosis, what can be inferred?

Accepted Answer

A)  If the individual has children, all the children will have cystic fibrosis.
B)  At least one of the individual's parents had cystic fibrosis.
C)  The individual is a carrier for cystic fibrosis, but does not have the disease.
D)  A drug that effectively treats one allele may not treat the other.E) All of the above
F) None of the above

Question 3

You are studying a disease that is known to be caused by a single nucleotide change in a single gene, although the effect this change ultimately has on the protein's structure and function is unknown.You have DNA samples from multiple patients that you suspect of having this disease.What is the most efficient way to test the samples for the relevant mutation?

Accepted Answer

A)  Preimplantation genetic diagnosis
B)  PCR amplification followed by Sanger DNA sequencing
C)  PCR amplification followed by gel electrophoresis
D)  High-throughput exome sequencing
E)  High-throughput genome sequencingF) A) and E)
G) B) and E)

Question 4

Which is the most common type of DNA polymorphism?

Accepted Answer

A)  single nucleotide polymorphism
B)  deletion/insertion polymorphism
C)  simple sequence repeat
D)  copy number variantE) None of the above
F) B) and D)

Question 5

Simple sequence repeat loci are highly variable because of what process?

Accepted Answer

A)  repair of double strand breaks that result from exposure to X-rays
B)  exposure to DNA damaging chemicals found in food and water
C)  the formation of thymine dimers by ultraviolet light
D)  slipped mispairing during DNA replicationE) C) and D)
F) None of the above

Question 6

In 2008, Margaret Binkele was murdered in her Georgia home.The number of repeats at three CODIS simple sequence repeat (SSR) loci were determined using crime scene samples and blood from three suspects.The results are summarized in the table.
Genotypes at three SSR loci
   Crime scerie sarmple  Suspect 1  Suspect 2  Suspect 3  SSR locus 1 10,108,106,710,10 SSR locus 2 11,1111,119,1510,12 SSR locus 3 6,96,76,96,9\begin{array} { | c | c | c | c | c | } \hline & 	ext { Crime scerie sarmple } & 	ext { Suspect 1 } & 	ext { Suspect 2 } & 	ext { Suspect 3 } \\hline 	ext { SSR locus 1 } & 10,10 & { 8 } , 10 & 6,7 & 10,10 \\hline 	ext { SSR locus 2 } & 11,11 & 11,11 & 9,15 & 10,12 \\hline 	ext { SSR locus 3 } & 6,9 & 6,7 & 6,9 & 6,9 \\hline\end{array} SSR locus 1  SSR locus 2  SSR locus 3 ​ Crime scerie sarmple 10,1011,116,9​ Suspect 1 8,1011,116,7​ Suspect 2 6,79,156,9​ Suspect 3 10,1010,126,9​​ 
-According to the data, the crime scene sample matches the sample from which suspect?

Accepted Answer

A)  Suspect 1
B)  Suspect 2
C)  Suspect 3
D)  None of the suspects is a match E) A) and B)
F) A) and D)

Question 7

If the 13 CODIS SSR loci are genotyped, why does each person (except identical twins) have a unique combination of SSR alleles?

Accepted Answer

A)  Each SSR locus has many alleles, each with a different number of repeats.
B)  SSRs have a very low mutation rate in individuals.
C)  SSR inheritance follows Mendel's law of segregation.
D)  Mitotic recombination results in new combinations of SSRs in different parts of an individual's body.E) A) and D)
F) B) and C)

Question 8

Which is part of a DNA sequencing technique that is useful for high-throughput sequencing, but is not part of Sanger DNA sequencing?

Accepted Answer

A)  Using dideoxynucleotides as chain terminators
B)  Separating DNA by size using gel electrophoresis
C)  Hybridization between the template and a primer
D)  Removal of a chemical group that blocks the 3′ end of the new DNA strand
E)  Labeling deoxynucleotides with fluorescent tagsF) A) and B)
G) B) and E)

Question 9

Which is a challenge of using pedigrees for positional cloning?

Accepted Answer

A)  Some matings may not be informative.
B)  Recombination occurs during meiosis.
C)  Many individuals in a pedigree are unaffected.
D)  Pedigrees are not based on DNA sequences.E) A) and C)
F) C) and D)

Question 10

What mechanisms contribute to the formation of deletions and insertions? (Select all that apply. )

Accepted Answer

A)  Repair of double-strand breaks in DNA
B)  Errors in DNA replication
C)  Unequal crossing-over due to mispairing of homologs
D)  Repair of thymine dimers in DNAE) None of the above
F) B) and C)

Question 11

Herceptin is a drug that is given to treat certain breast cancers.However, it is most effective on tumors that are overexpressing the gene HER2.Which of the following strategies would be best for determining whether Herceptin  would be effective in a given patient?

Accepted Answer

A)  Sequence DNA from the patient's sperm or eggs to determine whether the patient's germ cells contain gain-of-function mutations in HER2, and treat with Herceptin  only if they do.
B)  Determine the patient's HER2 sequence and compare it to a database of known HER2 mutations to determine whether the overexpression allele is present; if the overexpression allele is present, give Herceptin .
C)  Determine the patient's HER2 sequence and compare it to a database of known HER2 mutations to confirm that the patient has a mutation in the gene; give Herceptin  if any mutation is found.
D)  Perform microarray analysis to determine the location of the patient's HER2 gene and give Herceptin  if the HER2 gene is not in the normal location.E) B) and C)
F) C) and D)

Question 12

If a single DNA molecule is amplified by PCR, how many DNA molecules will exist after FIVE cycles?

Accepted Answer

A)  6
B)  8
C)  10
D)  32
E)  64F) None of the above
G) B) and C)

Question 13

What additional data would increase your confidence that the gene of interest and the DNA marker are linked? (Select all that apply. )

Accepted Answer

A)  Analysis of another mating from the same pedigree that produced 4 parental and 4 recombinant offspring.
B)  Analysis of a mating from a different pedigree that produced 4 parental and 4 recombinant offspring.
C)  Analysis of a mating from a different pedigree that produced 6 parental and 2 recombinant offspring.
D)  Analysis of another mating from the same pedigree that produced 6 parental and 2 recombinant offspring.E) All of the above
F) B) and C)

Question 14

Fragile X syndrome is caused by expansion of a trinucleotide repeat in the 5′ UTR of the FMR-1 gene.What is the simplest way to detect this expansion?

Accepted Answer

A)  PCR using genomic DNA as template and two primers that are complementary to repeats on either side of the expansion, followed by gel electrophoresis
B)  PCR using genomic DNA as template and two primers, one complementary to the repeat region and the other complementary to unique sequence, followed by gel electrophoresis
C)  PCR using two primers that are complementary to unique sequences on either side of the repeat region, followed by sequencing the PCR products
D)  Direct exome sequencing using a microarray
E)  Whole-genome sequencingF) None of the above
G) C) and D)

Question 15

What is the name of the process for removing amniotic fluid from a pregnant mother to obtain fetal cells for genetic testing?

Accepted Answer

A)  amniocentesis
B)  polymerase chain reaction
C)  preimplantation genetic diagnosis
D)  in vitro fertilizationE) B) and C)
F) A) and D)

Question 16

In the United States, most newborns undergo a screening test for up to 60 genetic disorders.A few drops of blood is taken from each baby and the levels of various blood components are determined.The screening identifies babies who might have a genetic disorder, but is not diagnostic.Further testing is required if the screen shows a blood component is out of the normal range.Which of the following technologies could potentially be a low-cost replacement for the current newborn screening and would directly test most babies for the presence of many genetic disorders?

Accepted Answer

A)  PCR to amplify the PKU gene
B)  exome sequencing and comparison with known mutations in databases
C)  DNA fingerprinting using CODIS SSRs
D)  preimplantation genetic diagnosisE) A) and B)
F) B) and C)

Question 17

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring

-The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Accepted Answer

A) True 
 B)False

Question 18

Simple sequence repeats are

Accepted Answer

A)  found only in coding regions of genes.
B)  sequences of 1 to 10 base pairs repeated a variable number of times in tandem.
C)  sequences that are 10 base pairs long or longer and found in several locations in the genome.
D)  members of a gene family.E) B) and C)
F) B) and D)

Exam 11: Analyzing Genomic Variation

Simple sequence repeat loci are highly variable because of what process?

Correct Answer
verified

Given that an individual is a compound heterozygote at the CFTR locus, the gene that causes cystic fibrosis, what can be inferred?

Correct Answer
verified

What is the name of the process for removing amniotic fluid from a pregnant mother to obtain fetal cells for genetic testing?

Correct Answer
verified

If the 13 CODIS SSR loci are genotyped, why does each person (except identical twins) have a unique combination of SSR alleles?

Correct Answer
verified

Simple sequence repeats are

Correct Answer
verified

What additional data would increase your confidence that the gene of interest and the DNA marker are linked? (Select all that apply. )

Correct Answer
verified

Correct Answer
verified

Which is part of a DNA sequencing technique that is useful for high-throughput sequencing, but is not part of Sanger DNA sequencing?

Correct Answer
verified

Correct Answer
verified

Fragile X syndrome is caused by expansion of a trinucleotide repeat in the 5′ UTR of the FMR-1 gene.What is the simplest way to detect this expansion?

Correct Answer
verified

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring -The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Correct Answer
verified

If a single DNA molecule is amplified by PCR, how many DNA molecules will exist after FIVE cycles?

Correct Answer
verified

Herceptin is a drug that is given to treat certain breast cancers.However, it is most effective on tumors that are overexpressing the gene HER2.Which of the following strategies would be best for determining whether Herceptin would be effective in a given patient?

Correct Answer
verified

How can microarrays differentiate between a wild-type allele and a disease allele that differ at only one nucleotide?

Correct Answer
verified

Correct Answer
verified

Which is a challenge of using pedigrees for positional cloning?

Correct Answer
verified

What mechanisms contribute to the formation of deletions and insertions? (Select all that apply. )

Correct Answer
verified

Which is the most common type of DNA polymorphism?

Correct Answer
verified

Exam 11: Analyzing Genomic Variation

Simple sequence repeat loci are highly variable because of what process?

Correct AnswerverifiedShow Answer

Given that an individual is a compound heterozygote at the CFTR locus, the gene that causes cystic fibrosis, what can be inferred?

Correct AnswerverifiedShow Answer

What is the name of the process for removing amniotic fluid from a pregnant mother to obtain fetal cells for genetic testing?

Correct AnswerverifiedShow Answer

If the 13 CODIS SSR loci are genotyped, why does each person (except identical twins) have a unique combination of SSR alleles?

Correct AnswerverifiedShow Answer

Simple sequence repeats are

Correct AnswerverifiedShow Answer

What additional data would increase your confidence that the gene of interest and the DNA marker are linked? (Select all that apply. )

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

Which is part of a DNA sequencing technique that is useful for high-throughput sequencing, but is not part of Sanger DNA sequencing?

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

Fragile X syndrome is caused by expansion of a trinucleotide repeat in the 5′ UTR of the FMR-1 gene.What is the simplest way to detect this expansion?

Correct AnswerverifiedShow Answer

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring -The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Correct AnswerverifiedShow Answer

If a single DNA molecule is amplified by PCR, how many DNA molecules will exist after FIVE cycles?

Correct AnswerverifiedShow Answer

Herceptin is a drug that is given to treat certain breast cancers.However, it is most effective on tumors that are overexpressing the gene HER2.Which of the following strategies would be best for determining whether Herceptin would be effective in a given patient?

Correct AnswerverifiedShow Answer

How can microarrays differentiate between a wild-type allele and a disease allele that differ at only one nucleotide?

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

Which is a challenge of using pedigrees for positional cloning?

Correct AnswerverifiedShow Answer

What mechanisms contribute to the formation of deletions and insertions? (Select all that apply. )

Correct AnswerverifiedShow Answer

Which is the most common type of DNA polymorphism?

Correct AnswerverifiedShow Answer

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