Question 1

Mapping a disease gene in humans requires

Accepted Answer

A) small families with pedigrees and DNA sequences. 
B) large numbers of mapped physical markers with complete genomic coverage and small families with pedigrees and DNA sequences. 
C) small numbers of mapped markers and small families with pedigrees and DNA sequences 
D) a multi-generational selective breeding program. 
A) small families with pedigrees and DNA sequences. 
B) large numbers of mapped physical markers with complete genomic coverage and small families with pedigrees and DNA sequences. 
C) small numbers of mapped markers and small families with pedigrees and DNA sequences 
D) a multi-generational selective breeding program. B

Question 2

In using PCR for preimplantation embryo analysis for diseases, one limitation is that

Accepted Answer

A) their is a finite probability tht the removal of the cells will itself result in a fetus that cannot undergo normal development. 
B) the cost of the technique is prohibitive. 
C) only a limited number of genetically well defined disease can be reasonably screened for. 
D) few individuals will opt for performing these tests. 
A) their is a finite probability tht the removal of the cells will itself result in a fetus that cannot undergo normal development. 
B) the cost of the technique is prohibitive. 
C) only a limited number of genetically well defined disease can be reasonably screened for. 
D) few individuals will opt for performing these tests. C

Question 3

If a mating results in 6 parental and 3 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

Accepted Answer

A) 0.22 
B) 1.1 
C) 6.3 
D) 11 
A) 0.22 
B) 1.1 
C) 6.3 
D) 11 A

Question 4

If a mating results in 19 parental and 1 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

Accepted Answer

A) 0.22 
B) 1.1 
C) 6.3 
D) 11 
A) 0.22 
B) 1.1 
C) 6.3 
D) 11

Question 5

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) Perform preimplantation genetic diagnosis on a patient to determine whether the patient's germ cells contain mutations in HER2, and treat with Herceptin if they do. 
B) Obtain a 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) Obtain a patient's HER2 sequence and compare it to a database of known HER2 mutations to confirm that the patient has mutations in the gene; then give Herceptin if any mutation is found. 
D) Obtain a patient's HER2 sequence and perform microarray analysis to determine whether the patient contains other mutations in addition to the overexpression allele. 
A) Perform preimplantation genetic diagnosis on a patient to determine whether the patient's germ cells contain mutations in HER2, and treat with Herceptin if they do. 
B) Obtain a 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) Obtain a patient's HER2 sequence and compare it to a database of known HER2 mutations to confirm that the patient has mutations in the gene; then give Herceptin if any mutation is found. 
D) Obtain a patient's HER2 sequence and perform microarray analysis to determine whether the patient contains other mutations in addition to the overexpression allele.

Question 6

In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone.Which of the following technologies can potentially facilitate the genetic screening of many newborns at higher efficiency and lower cost?

Accepted Answer

A) chorionic villus sampling. 
B) whole-exome sequencing. 
C) amniocentesis. 
D) preimplantation genetic diagnosis. 
A) chorionic villus sampling. 
B) whole-exome sequencing. 
C) amniocentesis. 
D) preimplantation genetic diagnosis.

Question 7

Why is possible to find a unique genetic profile for an individual using the information about a relatively few SSRs?

Accepted Answer

A) There is a high variablility of SSRs in the population. 
B) SSRs have a very high mutation rate in individuals. 
C) SSRs inheritance follows Mendel's law of segregation. 
D) Recombination during meiosis results in new combinations of SSRs in the offspring. 
A) There is a high variablility of SSRs in the population. 
B) SSRs have a very high mutation rate in individuals. 
C) SSRs inheritance follows Mendel's law of segregation. 
D) Recombination during meiosis results in new combinations of SSRs in the offspring.

Question 8

Which of the following polymorphism would you predict to most likely affect an individual's phenotype?

Accepted Answer

A) An SNP in an intron of a protein-coding gene 
B) An SSR within a telomeric sequence 
C) A DIP in the spacer DNA between genes 
D) An SNP in the start codon of a protein-coding gene 
A) An SNP in an intron of a protein-coding gene 
B) An SSR within a telomeric sequence 
C) A DIP in the spacer DNA between genes 
D) An SNP in the start codon of a protein-coding gene

Question 9

How are databases of variants used to help find disease gene candidates?

Accepted Answer

A) Variants from individuals that do not have the syndrome can be used to eliminate those variants as involved in causing the disease. 
B) They can indicate the probability of different variants appearing in a population. 
C) Variants from individuals that do not have the syndrome are not useful for this purpose. 
D) They can indicate rare variants that will help with the genetic identification of individuals. 
A) Variants from individuals that do not have the syndrome can be used to eliminate those variants as involved in causing the disease. 
B) They can indicate the probability of different variants appearing in a population. 
C) Variants from individuals that do not have the syndrome are not useful for this purpose. 
D) They can indicate rare variants that will help with the genetic identification of individuals.

Question 10

What techniques can be used to focus on a limited number of genes as being involved in a disease?

Accepted Answer

A) Comparison of genome sequence between variant databases. 
B) Microarrays for mRNA expression analysis. 
C) Analysis of all SSRs 
D) Selection for those variants that result in silent mutations. 
A) Comparison of genome sequence between variant databases. 
B) Microarrays for mRNA expression analysis. 
C) Analysis of all SSRs 
D) Selection for those variants that result in silent mutations.

Question 11

SNP is the acronym for:

Accepted Answer

A) simple Northern probe. 
B) single nucleotide polymorphism. 
C) sample in situ probe. 
D) simple nucleotide probe. 
A) simple Northern probe. 
B) single nucleotide polymorphism. 
C) sample in situ probe. 
D) simple nucleotide probe.

Question 12

Most polymorphisms do not result in a phenotypic difference since they are typically

Accepted Answer

A) nonsense mutations. 
B) either missense or neutral mutations. 
C) either silent mutations or are in non-coding regions. 
D) either missense mutations or are in promoter regions. 
A) nonsense mutations. 
B) either missense or neutral mutations. 
C) either silent mutations or are in non-coding regions. 
D) either missense mutations or are in promoter regions.

Question 13

Positional cloning requires knowledge about the

Accepted Answer

A) function of a gene. 
B) expression pattern of a gene. 
C) map location of a gene. 
D) sequence of a gene. 
A) function of a gene. 
B) expression pattern of a gene. 
C) map location of a gene. 
D) sequence of a gene.

Question 14

If a single DNA molecule is amplified by PCR, how many DNA molecules will there be after six cycles?

Accepted Answer

A) 6 
B) 12 
C) 24 
D) 64 
E) 86
Blooms Level 3: Apply 
A) 6 
B) 12 
C) 24 
D) 64 
E) 86
Blooms Level 3: Apply

Question 15

Examine this pedigree.Given the disease and marker phenotypes of her children, what was the most likely marker phenotype of individual V-3?

Accepted Answer

A) BC 
B) AB 
C) CC 
D) AC 
E) No prediction can be made
Blooms Level 4: Analyze 
A) BC 
B) AB 
C) CC 
D) AC 
E) No prediction can be made
Blooms Level 4: Analyze

Question 16

What is a limitation of using pedigrees for positional cloning?

Accepted Answer

A) Some matings may not be informative. 
B) Recombination occurs during meiosis. 
C) Pedigrees can be unreliable for many traits. 
D) Pedigrees are not based on DNA sequences. 
A) Some matings may not be informative. 
B) Recombination occurs during meiosis. 
C) Pedigrees can be unreliable for many traits. 
D) Pedigrees are not based on DNA sequences.

Question 17

Deletions and duplications are most often caused by

Accepted Answer

A) ultraviolet light. 
B) chemical damage. 
C) unequal crossing over. 
D) spontaneous errors in DNA replication. 
A) ultraviolet light. 
B) chemical damage. 
C) unequal crossing over. 
D) spontaneous errors in DNA replication.

Question 18

How could PCR be used for the detection of a SNP?

Accepted Answer

A) PCR coupled with Southern blotting using one of the primers as a probe. 
B) The PCR reaction would need to be sequenced. 
C) The PCR reaction could be subjected to agarose gel electrophoresis to determine the presence and size of the fragment. 
D) If a fragment is amplified then the SNP is present, no other techniques would have to be used 
A) PCR coupled with Southern blotting using one of the primers as a probe. 
B) The PCR reaction would need to be sequenced. 
C) The PCR reaction could be subjected to agarose gel electrophoresis to determine the presence and size of the fragment. 
D) If a fragment is amplified then the SNP is present, no other techniques would have to be used

Question 19

What DNA sequencing technique is useful for high throughput sequencing?

Accepted Answer

A) Sequencing using oligoarrays and fluorescent dyes. 
B) Dideoxynucleotides and radioactive nucleotides. 
C) Chemical degradation with radioactive nucleotides. 
D) Fluorescent nucleotides combined with acrylamide gel electrophoresis to separate the fragments. 
A) Sequencing using oligoarrays and fluorescent dyes. 
B) Dideoxynucleotides and radioactive nucleotides. 
C) Chemical degradation with radioactive nucleotides. 
D) Fluorescent nucleotides combined with acrylamide gel electrophoresis to separate the fragments.

Question 20

Which principle is used in DNA microarrays to differentiate between a wild-type allele and a disease allele that differs at only one nucleotide?

Accepted Answer

A) Copy number variation 
B) Differences in DNA hybridization 
C) Polymerase chain reaction 
D) Locus heterogeneity 
A) Copy number variation 
B) Differences in DNA hybridization 
C) Polymerase chain reaction 
D) Locus heterogeneity

Exam 10: Analyzing Genomic Information

Mapping a disease gene in humans requires

In using PCR for preimplantation embryo analysis for diseases, one limitation is that

If a mating results in 6 parental and 3 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

If a mating results in 19 parental and 1 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

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?

In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone.Which of the following technologies can potentially facilitate the genetic screening of many newborns at higher efficiency and lower cost?

Why is possible to find a unique genetic profile for an individual using the information about a relatively few SSRs?

Which of the following polymorphism would you predict to most likely affect an individual's phenotype?

How are databases of variants used to help find disease gene candidates?

What techniques can be used to focus on a limited number of genes as being involved in a disease?

SNP is the acronym for:

Most polymorphisms do not result in a phenotypic difference since they are typically

Positional cloning requires knowledge about the

If a single DNA molecule is amplified by PCR, how many DNA molecules will there be after six cycles?

Examine this pedigree.Given the disease and marker phenotypes of her children, what was the most likely marker phenotype of individual V-3?

What is a limitation of using pedigrees for positional cloning?

Deletions and duplications are most often caused by

How could PCR be used for the detection of a SNP?

What DNA sequencing technique is useful for high throughput sequencing?

Which principle is used in DNA microarrays to differentiate between a wild-type allele and a disease allele that differs at only one nucleotide?

Genetics: The Study of Biological Information

Mendels Principles of Heredity

Extensions to Mendels Laws

The Chromosome Theory of Inheritance

Linkage, Recombination, and the Mapping of Genes on Chromosomes

DNA Structure, Replication, and Recombination

Anatomy and Function of a Gene: Dissection Through Mutation

Gene Expression: The Flow of Information From DNA to RNA to Protein

Digital Analysis of Genomes

The Eukaryotic Chromosome

Chromosomal Rearrangements and Changes in Chromosome Number

Bacterial Genetics

Organellar Inheritance

Gene Regulation in Prokaryotes

Gene Regulation in Eukaryotes

Manipulating the Genomes of Eukaryotes

The Genetic Analysis of Development

The Genetics of Cancer

Variation and Selection in Populations

Genetics of Complex Traits

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