Deck 4: Genetics and Genomics in Critical Care

Question 1

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

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

Answer 1

Marfan syndrome
Cystic fibrosis
Sickle cell disease

Question 2

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

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.

Answer 2

they share an identical genome.

Question 3

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

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

Answer 3

histones.

Question 4

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

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

Question 5

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

Question 6

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

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 7

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

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 8

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

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 9

The goal of the Human Genome Project was

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 10

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

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

Question 11

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

A) adenine (A).
B) thymine (T).
C) cytosine (C).
D) sex chromosome X.

Question 12

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

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

Question 13

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

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

Question 14

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

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.

Question 15

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

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 16

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

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

Question 17

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

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

Question 18

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

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 19

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

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

Question 20

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

A) genetic mutation.
B) genetic polymorphism.
C) genetic deletion.
D) tandem repeat.