Question 1

When a set of parents has a child affected by an autosomal recessive disorder, the most likely recurrence risk is:

Accepted Answer

A)  100% 
B)  50% 
C)  33% 
D)  25% 
E)  12.5% 
A)  100% 
B)  50% 
C)  33% 
D)  25% 
E)  12.5% D

Question 2

Which type of mitochondrial mutation is NOT passed from an affected mother to her child when the mother exhibits heteroplasmy for the mutation?

Accepted Answer

A)  Deletion 
B)  Duplication 
C)  Missense mutation 
D)  Nonsense mutation 
E)  Repeat expansion 
A)  Deletion 
B)  Duplication 
C)  Missense mutation 
D)  Nonsense mutation 
E)  Repeat expansion A

Question 3

What is the most likely explanation for a set of unaffected parents having two children with a highly-penetrant, autosomal dominant disorder?

Accepted Answer

A)  Two new mutations occurred in the same gene 
B)  Germline mosaicism in one of the parents 
C)  Variable expressivity 
D)  Somatic reversion in carrier parent 
E)  Inactivation of mutant allele in carrier parent 
A)  Two new mutations occurred in the same gene 
B)  Germline mosaicism in one of the parents 
C)  Variable expressivity 
D)  Somatic reversion in carrier parent 
E)  Inactivation of mutant allele in carrier parent B

Question 4

Which of the following is a likely explanation that a male could survive an X-linked dominant, male lethal disorder?

Accepted Answer

A)  He could have a mutation reversion 
B)  He could have a compensating mutation 
C)  He could be 47, XXY 
D)  There is recombination between the X and Y chromosome 
E)  Any of the above is likely 
A)  He could have a mutation reversion 
B)  He could have a compensating mutation 
C)  He could be 47, XXY 
D)  There is recombination between the X and Y chromosome 
E)  Any of the above is likely

Question 5

Trinucleotide repeat alleles that are not associated with the disease phenotype but that can expand during meiosis are known as:

Accepted Answer

A)  Permutations 
B)  Pseudo-disease alleles 
C)  Pre-expansions 
D)  Expansion-prone alleles 
E)  Unstable alleles 
A)  Permutations 
B)  Pseudo-disease alleles 
C)  Pre-expansions 
D)  Expansion-prone alleles 
E)  Unstable alleles

Question 6

What genetic force leads to the variability in the percentage of mutant mtDNA molecules that are present in the children of a mother who exhibits heteroplasmy for the mutation?

Accepted Answer

A)  Positive selection 
B)  Negative selection 
C)  Genetic bottleneck 
D)  Reduced fitness 
E)  Balancing selection 
A)  Positive selection 
B)  Negative selection 
C)  Genetic bottleneck 
D)  Reduced fitness 
E)  Balancing selection

Question 7

What degree of relationship to each other are half-siblings?

Accepted Answer

A)  First 
B)  Second 
C)  Third 
D)  Fourth 
E)  Fifth 
A)  First 
B)  Second 
C)  Third 
D)  Fourth 
E)  Fifth

Question 8

For an autosomal dominant disease, if two affected parents have a child, what is most likely the risk of passing on the disorder?

Accepted Answer

A)  0 
B)  25% 
C)  50% 
D)  75% 
E)  100% 
A)  0 
B)  25% 
C)  50% 
D)  75% 
E)  100%

Question 9

If an uncle has children with his niece, which of the following genetic terms is used to describe this relationship?

Accepted Answer

A)  Interrelatedness 
B)  Recessivity 
C)  Inbreeding loop 
D)  Pedigree inversion 
E)  Consanguinity 
A)  Interrelatedness 
B)  Recessivity 
C)  Inbreeding loop 
D)  Pedigree inversion 
E)  Consanguinity

Question 10

Which of the following are true about mitochondrial inheritance?

Accepted Answer

A)  There is heteroplasmy 
B)  The mitochondria segregate randomly as cells divide 
C)  Mitochondria are maternally inherited 
D)  There are approximately 1000 mitochondrial DNA (mtDN
A)  molecules per cell 
E)  All of the above 
A)  There is heteroplasmy 
B)  The mitochondria segregate randomly as cells divide 
C)  Mitochondria are maternally inherited 
D)  There are approximately 1000 mitochondrial DNA (mtDN
A)  molecules per cell 
E)  All of the above

Question 11

What is the risk for hemophilia A in the grandsons if their paternal grandfather is a hemophiliac?

Accepted Answer

A)  0 
B)  1/8 
C)  1/4 
D)  1/2 
E)  100% 
A)  0 
B)  1/8 
C)  1/4 
D)  1/2 
E)  100%

Question 12

A process that can greatly affect the presentation of an X-linked phenotype in carrier females is:

Accepted Answer

A)  Interfering mutations 
B)  X-inactivation 
C)  Mitochondrial expression 
D)  Recombination between X homologues 
E)  Mutation repair between homologues 
A)  Interfering mutations 
B)  X-inactivation 
C)  Mitochondrial expression 
D)  Recombination between X homologues 
E)  Mutation repair between homologues

Question 13

Genetic anticipation is associated with:

Accepted Answer

A)  More mutated mitochondria being passed from the mother in later generations 
B)  An increased age of onset in later generations 
C)  Toxic metabolites being passed to the fetus in an affected mother 
D)  Trinucleotide repeat instability 
E)  Threshold of expression of mutations 
A)  More mutated mitochondria being passed from the mother in later generations 
B)  An increased age of onset in later generations 
C)  Toxic metabolites being passed to the fetus in an affected mother 
D)  Trinucleotide repeat instability 
E)  Threshold of expression of mutations

Question 14

Heteroplasmy is associated with:

Accepted Answer

A)  Difficulty in making a prenatal diagnosis 
B)  Random inactivation of the X chromosome 
C)  Repeat instability 
D)  Increased severity in later generations 
E)  All of the above 
A)  Difficulty in making a prenatal diagnosis 
B)  Random inactivation of the X chromosome 
C)  Repeat instability 
D)  Increased severity in later generations 
E)  All of the above

Question 15

Anticipation is the finding in a genetic disorder that:

Accepted Answer

A)  Mutations in the promoter are more severe than those in exons 
B)  One is more likely to diagnose genetic disease in additional family members once a family is referred for genetic counseling 
C)  The severity of phenotype increases, and age of onset decreases as some genetic disorders are passed through families 
D)  The known variability in a disease phenotype increases once a disorder is described in the literature because of better clinical observation 
E)  For many complex traits, the likelihood of having an affected child increases the risk of having a second affected child 
A)  Mutations in the promoter are more severe than those in exons 
B)  One is more likely to diagnose genetic disease in additional family members once a family is referred for genetic counseling 
C)  The severity of phenotype increases, and age of onset decreases as some genetic disorders are passed through families 
D)  The known variability in a disease phenotype increases once a disorder is described in the literature because of better clinical observation 
E)  For many complex traits, the likelihood of having an affected child increases the risk of having a second affected child

Question 16

Which of the following terms refers to the fact that different people with the same genotype can have variation in phenotype?

Accepted Answer

A)  Reduced penetrance 
B)  Variable expressivity 
C)  Incomplete dominance 
D)  Codominance 
E)  Allelic heterogeneity 
A)  Reduced penetrance 
B)  Variable expressivity 
C)  Incomplete dominance 
D)  Codominance 
E)  Allelic heterogeneity

Question 17

In certain proteins, expansion of a tract of which amino acid is associated with various genetic forms of progressive neurodegeneration?

Accepted Answer

A)  Alanine 
B)  Proline 
C)  Valine 
D)  Methionine 
E)  Glutamine 
A)  Alanine 
B)  Proline 
C)  Valine 
D)  Methionine 
E)  Glutamine

Question 18

Which of the following terms refers to a set of alleles that is inherited together on a chromosome?

Accepted Answer

A)  Linkage disequilibrium 
B)  Chromatid 
C)  Haplotype 
D)  Epistatic alleles 
E)  Genotype 
A)  Linkage disequilibrium 
B)  Chromatid 
C)  Haplotype 
D)  Epistatic alleles 
E)  Genotype

Question 19

Unstable trinucleotide repeat alleles can be observed to expand in which of the following situations?

Accepted Answer

A)  During meiosis in a male premutation carrier 
B)  During meiosis in a female premutation carrier 
C)  During mitosis in an individual with a disease allele 
D)  Both A and B 
E)  Both B and C 
A)  During meiosis in a male premutation carrier 
B)  During meiosis in a female premutation carrier 
C)  During mitosis in an individual with a disease allele 
D)  Both A and B 
E)  Both B and C

Question 20

What is the term used to describe the patient who first brings a family to a geneticist's attention?

Accepted Answer

A)  Consultand 
B)  Primary case 
C)  Proband 
D)  Referral case 
E)  Any of the above 
A)  Consultand 
B)  Primary case 
C)  Proband 
D)  Referral case 
E)  Any of the above

When a set of parents has a child affected by an autosomal recessive disorder, the most likely recurrence risk is:

Which type of mitochondrial mutation is NOT passed from an affected mother to her child when the mother exhibits heteroplasmy for the mutation?

What is the most likely explanation for a set of unaffected parents having two children with a highly-penetrant, autosomal dominant disorder?

Which of the following is a likely explanation that a male could survive an X-linked dominant, male lethal disorder?

Trinucleotide repeat alleles that are not associated with the disease phenotype but that can expand during meiosis are known as:

What genetic force leads to the variability in the percentage of mutant mtDNA molecules that are present in the children of a mother who exhibits heteroplasmy for the mutation?

What degree of relationship to each other are half-siblings?

For an autosomal dominant disease, if two affected parents have a child, what is most likely the risk of passing on the disorder?

If an uncle has children with his niece, which of the following genetic terms is used to describe this relationship?

Which of the following are true about mitochondrial inheritance?

What is the risk for hemophilia A in the grandsons if their paternal grandfather is a hemophiliac?

A process that can greatly affect the presentation of an X-linked phenotype in carrier females is:

Genetic anticipation is associated with:

Heteroplasmy is associated with:

Anticipation is the finding in a genetic disorder that:

Which of the following terms refers to the fact that different people with the same genotype can have variation in phenotype?

In certain proteins, expansion of a tract of which amino acid is associated with various genetic forms of progressive neurodegeneration?

Which of the following terms refers to a set of alleles that is inherited together on a chromosome?

Unstable trinucleotide repeat alleles can be observed to expand in which of the following situations?

What is the term used to describe the patient who first brings a family to a geneticist's attention?

Introduction to the Human Genome

The Human Genome: Gene Structure and Function

Principles of Clinical Cytogenetics and Genome Analysis

The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Complex Inheritance of Common Multifactorial Disorders

Genetic Variation in Populations

Identifying the Genetic Basis for Human Disease

The Molecular Basis of Genetic Disease

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

The Treatment of Genetic Disease

Developmental Genetics and Birth Defects

Cancer Genetics and Genomics

Risk Assessment and Genetic Counseling

Prenatal Diagnosis and Screening

Application of Genomics to Medicine and Personalized Health Care

Ethical and Social Issues in Genetics and Genomics

Filters

Exam 7: Patterns of Single-Gene Inheritance

When a set of parents has a child affected by an autosomal recessive disorder, the most likely recurrence risk is:

Which type of mitochondrial mutation is NOT passed from an affected mother to her child when the mother exhibits heteroplasmy for the mutation?

What is the most likely explanation for a set of unaffected parents having two children with a highly-penetrant, autosomal dominant disorder?

Which of the following is a likely explanation that a male could survive an X-linked dominant, male lethal disorder?

Trinucleotide repeat alleles that are not associated with the disease phenotype but that can expand during meiosis are known as:

What genetic force leads to the variability in the percentage of mutant mtDNA molecules that are present in the children of a mother who exhibits heteroplasmy for the mutation?

What degree of relationship to each other are half-siblings?

For an autosomal dominant disease, if two affected parents have a child, what is most likely the risk of passing on the disorder?

If an uncle has children with his niece, which of the following genetic terms is used to describe this relationship?

Which of the following are true about mitochondrial inheritance?

What is the risk for hemophilia A in the grandsons if their paternal grandfather is a hemophiliac?

A process that can greatly affect the presentation of an X-linked phenotype in carrier females is:

Genetic anticipation is associated with:

Heteroplasmy is associated with:

Anticipation is the finding in a genetic disorder that:

Which of the following terms refers to the fact that different people with the same genotype can have variation in phenotype?

In certain proteins, expansion of a tract of which amino acid is associated with various genetic forms of progressive neurodegeneration?

Which of the following terms refers to a set of alleles that is inherited together on a chromosome?

Unstable trinucleotide repeat alleles can be observed to expand in which of the following situations?

What is the term used to describe the patient who first brings a family to a geneticist's attention?

Introduction to the Human Genome

The Human Genome: Gene Structure and Function

Principles of Clinical Cytogenetics and Genome Analysis

The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Complex Inheritance of Common Multifactorial Disorders

Genetic Variation in Populations

Identifying the Genetic Basis for Human Disease

The Molecular Basis of Genetic Disease

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

The Treatment of Genetic Disease

Developmental Genetics and Birth Defects

Cancer Genetics and Genomics

Risk Assessment and Genetic Counseling

Prenatal Diagnosis and Screening

Application of Genomics to Medicine and Personalized Health Care

Ethical and Social Issues in Genetics and Genomics

Filters