Question 1

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

Accepted Answer

A)  RNA Š DNA Š protein. 
B)  DNA Š RNA Š protein. 
C)  protein Š RNA Š DNA. 
D)  protein Š DNA Š RNA. 
A)  RNA Š DNA Š protein. 
B)  DNA Š RNA Š protein. 
C)  protein Š RNA Š DNA. 
D)  protein Š DNA Š RNA. B

Question 2

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.A possible cause for malignant hyperthermia is

Accepted Answer

A)  a polymorphism in RYR1 at chromosome 19q13.1. 
B)  a variant in the VKOR1 gene. 
C)  a variant in the cytochrome P450 enzyme CYP2C9 gene. 
D)  halothane overdose. 
A)  a polymorphism in RYR1 at chromosome 19q13.1. 
B)  a variant in the VKOR1 gene. 
C)  a variant in the cytochrome P450 enzyme CYP2C9 gene. 
D)  halothane overdose. A

Question 3

When a genetic variant exists in greater than 1% of the population,it is considered a

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. B

Question 4

The Genetic Information Nondiscrimination Act (GINA)of 2008 is an essential piece of legislation designed to prevent:

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)  confidentiality of results. 
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)  confidentiality of results. 
D)  information sharing between biobanks that are studying the same genetic disorders.

Question 5

The goal of the Human Genome Project was

Accepted Answer

A)  to identify haplotype tags. 
B)  to expose untaggable SNPs and recombination hot spots. 
C)  to produce a catalog of human genome variation. 
D)  to map all the human genes. 
A)  to identify haplotype tags. 
B)  to expose untaggable SNPs and recombination hot spots. 
C)  to produce a catalog of human genome variation. 
D)  to map all the human genes.

Question 6

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 7

Studies done on large,extended families who have several family members affected with a rare disease are known as:

Accepted Answer

A)  genetic association studies. 
B)  genetic epidemiology. 
C)  kinships. 
D)  phenotypes. 
A)  genetic association studies. 
B)  genetic epidemiology. 
C)  kinships. 
D)  phenotypes.

Question 8

Monozygotic twins separated at birth are used to compare the effects of genetics versus environment and health because

Accepted Answer

A)  they share an identical genome. 
B)  monozygotic twins have different sex chromosomes. 
C)  it is easier to do because siblings are separated at the time of adoption. 
D)  genetics, environment, and health issues are stable in a study group. 
A)  they share an identical genome. 
B)  monozygotic twins have different sex chromosomes. 
C)  it is easier to do because siblings are separated at the time of adoption. 
D)  genetics, environment, and health issues are stable in a study group.

Question 9

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

Question 10

The study of all the genetic material within the cell and its impact on biological and physical characteristics is known as:

Accepted Answer

A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones. 
A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones.

Question 11

Genetic disorders do not all have the same cause.Major categories of disorders include

Accepted Answer

A)  single gene. 
B)  complex gene. 
C)  chromosome. 
D)  mitochondrial. 
E)  all of the above. 
A)  single gene. 
B)  complex gene. 
C)  chromosome. 
D)  mitochondrial. 
E)  all of the above.

Question 12

To achieve a consistent distance across the width of the DNA strand,the nucleotide base guanine (G)can only be paired with:

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 13

Which of the following would be 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 14

A family pedigree is used to determine whether a disease has a genetic component.The proband can be defined as:

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 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 locus.

Question 15

The study of heredity,particularly as it relates to the ability of genes to transfer heritable physical characteristics,is known as:

Accepted Answer

A)  chromatids. 
B)  karyotype. 
C)  genetics. 
D)  histones. 
A)  chromatids. 
B)  karyotype. 
C)  genetics. 
D)  histones.

Question 16

An example of direct-to-consumer genomic testing is:

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.

Question 17

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

Accepted Answer

A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones. 
A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones.

Question 18

Prader-Willi syndrome (PWS)is a caused by a lack of genetic material in 15q11.2-13.Approximately 70% of PWS is related to deletion.Based on this information,it can be determined that PWS is a

Accepted Answer

A)  chromosome disorder. 
B)  single gene disorder. 
C)  complex gene disorder. 
D)  multifactorial disorder. 
A)  chromosome disorder. 
B)  single gene disorder. 
C)  complex gene disorder. 
D)  multifactorial disorder.

Question 19

Each chromosome consists of an unbroken strand of DNA inside the nucleus of the cell.This arrangement of human chromosomes is known as:

Accepted Answer

A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones. 
A)  chromatids. 
B)  karyotype. 
C)  genomics. 
D)  histones.

Question 20

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

Exam 4: Genetics and Genomics in Critical Care

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

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.A possible cause for malignant hyperthermia is

When a genetic variant exists in greater than 1% of the population,it is considered a

The Genetic Information Nondiscrimination Act (GINA)of 2008 is an essential piece of legislation designed to prevent:

The goal of the Human Genome Project was

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

Studies done on large,extended families who have several family members affected with a rare disease are known as:

Monozygotic twins separated at birth are used to compare the effects of genetics versus environment and health because

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

The study of all the genetic material within the cell and its impact on biological and physical characteristics is known as:

Genetic disorders do not all have the same cause.Major categories of disorders include

To achieve a consistent distance across the width of the DNA strand,the nucleotide base guanine (G)can only be paired with:

Which of the following would be classified as a single-gene disorder?

A family pedigree is used to determine whether a disease has a genetic component.The proband can be defined as:

The study of heredity,particularly as it relates to the ability of genes to transfer heritable physical characteristics,is known as:

An example of direct-to-consumer genomic testing is:

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

Prader-Willi syndrome (PWS)is a caused by a lack of genetic material in 15q11.2-13.Approximately 70% of PWS is related to deletion.Based on this information,it can be determined that PWS is a

Each chromosome consists of an unbroken strand of DNA inside the nucleus of the cell.This arrangement of human chromosomes is known as:

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?

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Cardiovascular Disorders

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Gastrointestinal Disorders and Therapeutic Management

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Shock,sepsis,and Multiple Organ Dysfunction Syndrome

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