Question 1

What is the study of heredity particularly as it relates to the transfer heritable physical characteristics called?

Accepted Answer

A)  Chromatids 
B)  Karyotype 
C)  Genetics 
D)  Histones 
A)  Chromatids 
B)  Karyotype 
C)  Genetics 
D)  Histones C

Question 2

What was the Genetic Information Nondiscrimination Act (GINA)of 2008 designed to prevent from happening?

Accepted Answer

A)  Abuse of genetic information in employment and health insurance decisions 
B)  Genetic counselors from reporting results to the health insurance companies 
C)  Mandatory genetics testing of all individuals with certain diseases 
D)  Information sharing between biobanks that are studying the same genetic disorders 
A)  Abuse of genetic information in employment and health insurance decisions 
B)  Genetic counselors from reporting results to the health insurance companies 
C)  Mandatory genetics testing of all individuals with certain diseases 
D)  Information sharing between biobanks that are studying the same genetic disorders A

Question 3

What is an example of direct-to-consumer genomic testing?

Accepted Answer

A)  Genetic testing through amniocentesis 
B)  Paternity testing from buccal swabs of the child and father 
C)  Biopsy of a lump for cancer 
D)  Drug testing using hair follicles 
A)  Genetic testing through amniocentesis 
B)  Paternity testing from buccal swabs of the child and father 
C)  Biopsy of a lump for cancer 
D)  Drug testing using hair follicles B

Question 4

To achieve a consistent distance across the width of the DNA strand,the nucleotide base guanine (G)can only be paired with what other genetic material?

Accepted Answer

A)  Adenine (
A)  
B)  Thymine (T) 
C)  Cytosine (
C)  
D)  Sex chromosome X 
A)  Adenine (
A)  
B)  Thymine (T) 
C)  Cytosine (
C)  
D)  Sex chromosome X

Question 5

The process that is used to make polypeptide chains that constitute proteins can be written as:

Accepted Answer

A)  RNA → DNA → protein. 
B)  DNA → RNA → protein. 
C)  Protein → RNA → DNA. 
D)  Protein → DNA → RNA. 
A)  RNA → DNA → protein. 
B)  DNA → RNA → protein. 
C)  Protein → RNA → DNA. 
D)  Protein → DNA → RNA.

Question 6

Each chromosome consists of an unbroken strand of DNA inside the nucleus of the cell.What is the arrangement of human chromosomes termed?

Accepted Answer

A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones 
A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones

Question 7

Prader-Willi syndrome (PWS)is a rare genetic disorder in which genes on chromosome 15 (q11.2-13)are deleted.What type of disorder is PWS?

Accepted Answer

A)  Chromosome disorder 
B)  Mitochondrial disorder 
C)  Complex gene disorder 
D)  Multifactorial disorder 
A)  Chromosome disorder 
B)  Mitochondrial disorder 
C)  Complex gene disorder 
D)  Multifactorial disorder

Question 8

What is the study of all the genetic material within the cell and its impact on biologic and physical characteristics called?

Accepted Answer

A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones 
A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones

Question 9

The patient is placed under general anesthesia for a carotid endarterectomy.During the surgery,the patient develops muscle contracture with skeletal muscle rigidity,acidosis,and elevated temperature.What is a possible cause for malignant hyperthermia?

Accepted Answer

A)  Polymorphism in RYR1 at chromosome 19q13.1 
B)  Variant in the VKOR1 gene 
C)  Variant in the cytochrome P450 enzyme CYP2C9 gene 
D)  Halothane overdose 
A)  Polymorphism in RYR1 at chromosome 19q13.1 
B)  Variant in the VKOR1 gene 
C)  Variant in the cytochrome P450 enzyme CYP2C9 gene 
D)  Halothane overdose

Question 10

Which type of genetic disorder occurs when there is an interaction between genetic and environmental factors such as that which occurs with type 2 diabetes?

Accepted Answer

A)  Chromosome 
B)  Mitochondrial 
C)  Multifactorial disorders 
D)  Allele dysfunction 
A)  Chromosome 
B)  Mitochondrial 
C)  Multifactorial disorders 
D)  Allele dysfunction

Question 11

What is a genetic variant that exists in greater than 1% of the population termed?

Accepted Answer

A)  Genetic mutation 
B)  Genetic polymorphism 
C)  Genetic deletion 
D)  Tandem repeat 
A)  Genetic mutation 
B)  Genetic polymorphism 
C)  Genetic deletion 
D)  Tandem repeat

Question 12

What are the studies called that are done on large,extended families who have several family members affected with a rare disease?

Accepted Answer

A)  Genetic association 
B)  Genetic epidemiology 
C)  Kinships 
D)  Phenotypes 
A)  Genetic association 
B)  Genetic epidemiology 
C)  Kinships 
D)  Phenotypes

Question 13

Why are monozygotic twins separated at birth used to study the effects of genetics versus environment?

Accepted Answer

A)  They share an identical genome. 
B)  They have different sex chromosomes. 
C)  They have mirror chromosomes. 
D)  They have identical health issues. 
A)  They share an identical genome. 
B)  They have different sex chromosomes. 
C)  They have mirror chromosomes. 
D)  They have identical health issues.

Question 14

Which disorders are classified as a single-gene disorder?

Accepted Answer

A)  Down syndrome 
B)  Marfan syndrome 
C)  Cystic fibrosis 
D)  Type 2 diabetes 
E)  Sickle cell disease
F) Cardiovascular atherosclerotic diseases 
A)  Down syndrome 
B)  Marfan syndrome 
C)  Cystic fibrosis 
D)  Type 2 diabetes 
E)  Sickle cell disease
F) Cardiovascular atherosclerotic diseases

Question 15

What was the goal of the Human Genome Project?

Accepted Answer

A)  Identifying haplotype tags 
B)  Exposing untaggable SNPs and recombination hot spots 
C)  Producing a catalog of human genome variation 
D)  Mapping all the human genes 
A)  Identifying haplotype tags 
B)  Exposing untaggable SNPs and recombination hot spots 
C)  Producing a catalog of human genome variation 
D)  Mapping all the human genes

Question 16

Philadelphia translocation is a specific chromosomal abnormality that occurs from a reciprocal translocation between chromosomes 9 and 22,where parts of these two chromosomes switch places.This abnormality is associated with which disease?

Accepted Answer

A)  Hemophilia A 
B)  Chronic myelogenous leukemia 
C)  Obesity 
D)  Marfan syndrome 
A)  Hemophilia A 
B)  Chronic myelogenous leukemia 
C)  Obesity 
D)  Marfan syndrome

Question 17

A family pedigree is used to determine whether a disease has a genetic component.What does a proband indicate in a family pedigree?

Accepted Answer

A)  The disease being mother related or father related 
B)  The first person in the family who was diagnosed with the disorder 
C)  Who in the family is the xy band 
D)  The disease genotype including locus 
A)  The disease being mother related or father related 
B)  The first person in the family who was diagnosed with the disorder 
C)  Who in the family is the xy band 
D)  The disease genotype including locus

Question 18

Hemophilia A is an inherited disease.Which statements would be determined by the family pedigree regarding hemophilia A?

Accepted Answer

A)  It is an X-linked disorder. 
B)  Sons have a 50% chance of having hemophilia. 
C)  It is a Y-linked disorder. 
D)  Daughters have a 50% chance of being a carrier of the trait. 
E)  Sons have a 25% chance of having hemophilia.
F) Daughters have a 50% chance of having hemophilia. 
A)  It is an X-linked disorder. 
B)  Sons have a 50% chance of having hemophilia. 
C)  It is a Y-linked disorder. 
D)  Daughters have a 50% chance of being a carrier of the trait. 
E)  Sons have a 25% chance of having hemophilia.
F) Daughters have a 50% chance of having hemophilia.

Question 19

A specialized class of proteins that organizes the double-stranded DNA into what looks like a tightly coiled telephone cord is known which of the following?

Accepted Answer

A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones 
A)  Chromatids 
B)  Karyotype 
C)  Genomics 
D)  Histones

Question 20

Which patients would be candidates for genetic testing for long QT syndrome (LQTS)?

Accepted Answer

A)  Patients with prolonged QT interval during a cardiac and genetic work-up 
B)  Family history of positive genotype and negative phenotype 
C)  Patients diagnosed with torsades de pointes 
D)  Family history of sudden cardiac death 
E)  Family history of bleeding disorders
F) Family history of obesity 
A)  Patients with prolonged QT interval during a cardiac and genetic work-up 
B)  Family history of positive genotype and negative phenotype 
C)  Patients diagnosed with torsades de pointes 
D)  Family history of sudden cardiac death 
E)  Family history of bleeding disorders
F) Family history of obesity

Exam 4: Genetic Issues

What is the study of heredity particularly as it relates to the transfer heritable physical characteristics called?

What was the Genetic Information Nondiscrimination Act (GINA)of 2008 designed to prevent from happening?

What is an example of direct-to-consumer genomic testing?

To achieve a consistent distance across the width of the DNA strand,the nucleotide base guanine (G)can only be paired with what other genetic material?

The process that is used to make polypeptide chains that constitute proteins can be written as:

Each chromosome consists of an unbroken strand of DNA inside the nucleus of the cell.What is the arrangement of human chromosomes termed?

Prader-Willi syndrome (PWS)is a rare genetic disorder in which genes on chromosome 15 (q11.2-13)are deleted.What type of disorder is PWS?

What is the study of all the genetic material within the cell and its impact on biologic and physical characteristics called?

The patient is placed under general anesthesia for a carotid endarterectomy.During the surgery,the patient develops muscle contracture with skeletal muscle rigidity,acidosis,and elevated temperature.What is a possible cause for malignant hyperthermia?

Which type of genetic disorder occurs when there is an interaction between genetic and environmental factors such as that which occurs with type 2 diabetes?

What is a genetic variant that exists in greater than 1% of the population termed?

What are the studies called that are done on large,extended families who have several family members affected with a rare disease?

Why are monozygotic twins separated at birth used to study the effects of genetics versus environment?

Which disorders are classified as a single-gene disorder?

What was the goal of the Human Genome Project?

Philadelphia translocation is a specific chromosomal abnormality that occurs from a reciprocal translocation between chromosomes 9 and 22,where parts of these two chromosomes switch places.This abnormality is associated with which disease?

A family pedigree is used to determine whether a disease has a genetic component.What does a proband indicate in a family pedigree?

Hemophilia A is an inherited disease.Which statements would be determined by the family pedigree regarding hemophilia A?

A specialized class of proteins that organizes the double-stranded DNA into what looks like a tightly coiled telephone cord is known which of the following?

Which patients would be candidates for genetic testing for long QT syndrome (LQTS)?

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