Question 1

Which patients would be candidates for genetic testing for long QT syndrome (LQTS)?&#10;A) Patients with prolonged QT interval during a cardiac and genetic work-up&#10;B) Family history of positive genotype and negative phenotype&#10;C) Patients diagnosed with torsades de pointes&#10;D) Family history of sudden cardiac death&#10;E) Family history of bleeding disorders&#10;F) Family history of obesity

Accepted Answer

Clinical genetic testing is available for long QT syndrome (LQTS).Genetic testing is very helpful within families of patients with LQTS.If the family member has a prolonged QTc interval,the reasonable assumption during the cardiac and genetic work-up is that the person has the mutation.It is also important to test family members with normal QTc intervals because up to 50% have "concealed" LQTS,meaning they have a positive genotype and negative phenotype (normal QT on the resting ECG).This is because of a genetic concept termed penetrance,in which the same gene does not have the same phenotypic effect on everyone who is affected.If a person carries the genetic mutation but has a normal QT interval at rest,he or she may still be vulnerable during exercise or physiologic stress.Frequently patients are identified after a syncopal episode,a life-threatening dysrhythmia such as torsades de pointes,or sudden cardiac death.Hemophilia A and B are associated with bleeding disorders.The FTO gene is associated with obesity.

Question 2

What is a genetic variant that exists in greater than 1% of the population termed?&#10;A) Genetic mutation&#10;B) Genetic polymorphism&#10;C) Genetic deletion&#10;D) Tandem repeat

Accepted Answer

When a genetic variant occurs frequently and is present in 1% or more of the population,it is described as a genetic polymorphism.The term genetic mutation refers to a change in the DNA genetic sequence that can be inherited that occurs in less than 1% of the population.Genetic material in the chromosome can also be deleted and new information from another chromosome can be inserted or can be a tandem repeat (multiple repeats of the same sequence).

Question 3

Hemophilia A is an inherited disease.Which statements would be determined by the family pedigree regarding hemophilia A?&#10;A) It is an X-linked disorder.&#10;B) Sons have a 50% chance of having hemophilia.&#10;C) It is a Y-linked disorder.&#10;D) Daughters have a 50% chance of being a carrier of the trait.&#10;E) Sons have a 25% chance of having hemophilia.&#10;F) Daughters have a 50% chance of having hemophilia.

Accepted Answer

In an X-linked disorder,each son has a 50% chance of having the disorder and each daughter has a 50% chance of being a carrier.In a family pedigree,the absence of direct male-to-male transmission makes this condition identifiable as an X-linked disorder.

Question 4

A family pedigree is used to determine whether a disease has a genetic component.What does a proband indicate in a family pedigree?&#10;A) The disease being mother related or father related&#10;B) The first person in the family who was diagnosed with the disorder&#10;C) Who in the family is the xy band&#10;D) The disease genotype including locus

Accepted Answer

For nurses,it is important to ask questions that elucidate which family members are affected versus those who are unaffected and then to identify the individuals who may carry the gene in question but who do not have symptoms (carriers).The proband is the name given to the first person diagnosed in the family pedigree.Homozygous versus heterozygous determines if the disorder is carried by a gene from one or both parents.The xy band determines if the disorder is carried through the sex genes.A disease locus is the genetic address of the disorder.

Question 5

What is the study of all the genetic material within the cell and its impact on biologic and physical characteristics called?&#10;A) Chromatids&#10;B) Karyotype&#10;C) Genomics&#10;D) Histones

Accepted Answer

Genomics refers to the study of all of the genetic material within cells and encompasses the environmental interaction and impact on biologic and physical characteristics.Each somatic chromosome,also called an autosome,is made of two strands,called chromatids,which are joined near the center.A karyotype is the arrangement of human chromosomes from largest to smallest.A specialized class of proteins called histones organizes the double-stranded DNA into what looks like a tightly coiled telephone cord.

Question 6

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?&#10;A) Chromatids&#10;B) Karyotype&#10;C) Genomics&#10;D) Histones

Accepted Answer

A specialized class of proteins called histones organizes the double-stranded DNA into what looks like a tightly coiled telephone cord.Genomics refers to the study of all of the genetic material within cells and encompasses the environmental interaction and impact on biologic and physical characteristics.Each somatic chromosome,also called an autosome,is made of two strands,called chromatids,which are joined near the center.A karyotype is the arrangement of human chromosomes from largest to smallest.

Question 7

Which disorders are classified as a single-gene disorder?&#10;A) Down syndrome&#10;B) Marfan syndrome&#10;C) Cystic fibrosis&#10;D) Type 2 diabetes&#10;E) Sickle cell disease&#10;F) Cardiovascular atherosclerotic diseases

Accepted Answer

Cystic fibrosis,sickle cell disease,hemophilia A,and Marfan syndrome are examples of single-gene disorders.Down syndrome is a chromosome disorder (extra chromosome 21),and cardiovascular atherosclerotic disease and type 2 diabetes are examples of complex gene disorders that result from an interaction of genetic and environmental factors.

Question 8

Each chromosome consists of an unbroken strand of DNA inside the nucleus of the cell.What is the arrangement of human chromosomes termed?&#10;A) Chromatids&#10;B) Karyotype&#10;C) Genomics&#10;D) Histones

Accepted Answer

A karyotype is the arrangement of human chromosomes from largest to smallest.Each somatic chromosome,also called an autosome,is made of two strands,called chromatids,which are joined near the center.Genomics refers to the study of all of the genetic material within cells and encompasses the environmental interaction and impact on biologic and physical characteristics.A specialized class of proteins called histones organizes the double-stranded DNA into what looks like a tightly coiled telephone cord.

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?

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

Accepted Answer

Individuals with polymorphisms in the ryanodine receptor gene (RYR1)at chromosome 19q13.1 are at risk of a rare pharmacogenetic condition known as malignant hyperthermia.In affected individuals,exposure to inhalation anesthetics and depolarizing muscle relaxants during general anesthesia induces life-threatening muscle contracture with skeletal muscle rigidity,acidosis,and elevated temperature.Warfarin is being researched as a variant in the VKOR1 gene and in the cytochrome P450 enzyme CYP2C9 gene.

Question 10

What was the goal of the Human Genome Project?&#10;A) Identifying haplotype tags&#10;B) Exposing untaggable SNPs and recombination hot spots&#10;C) Producing a catalog of human genome variation&#10;D) Mapping all the human genes

Accepted Answer

The Human Genome Project was a huge international collaborative project that began in 1990 with the goal of making a map of all the human genes (the genome).The final genome sequence was published in 2003.The HapMap project was to identify haplotype tags.The Genome-Wide Association Studies was used to expose untaggable SNPs and recombination hot spots.The 1000 Genomes project was used to map all the human genes.

Question 11

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?&#10;A) Chromosome&#10;B) Mitochondrial&#10;C) Multifactorial disorders&#10;D) Allele dysfunction

Accepted Answer

The answer of Which type of genetic disorder occurs when...

Question 12

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?&#10;A) Adenine (A)&#10;B) Thymine (T)&#10;C) Cytosine (C)&#10;D) Sex chromosome X

Accepted Answer

The answer of To achieve a consistent distance across the...

Question 13

What are the studies called that are done on large,extended families who have several family members affected with a rare disease?&#10;A) Genetic association&#10;B) Genetic epidemiology&#10;C) Kinships&#10;D) Phenotypes

Accepted Answer

The answer of What are the studies called that are...

Question 14

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

Accepted Answer

The answer of Philadelphia translocation is a specific chromosomal abnormality...

Question 15

What is the study of heredity particularly as it relates to the transfer heritable physical characteristics called?&#10;A) Chromatids&#10;B) Karyotype&#10;C) Genetics&#10;D) Histones

Accepted Answer

The answer of What is the study of heredity particularly...

Question 16

Why are monozygotic twins separated at birth used to study the effects of genetics versus environment?&#10;A) They share an identical genome.&#10;B) They have different sex chromosomes.&#10;C) They have mirror chromosomes.&#10;D) They have identical health issues.

Accepted Answer

The answer of Why are monozygotic twins separated at birth...

Question 17

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?&#10;A) Chromosome disorder&#10;B) Mitochondrial disorder&#10;C) Complex gene disorder&#10;D) Multifactorial disorder

Accepted Answer

The answer of Prader-Willi syndrome (PWS)is a rare genetic disorder...

Question 18

What was the Genetic Information Nondiscrimination Act (GINA)of 2008 designed to prevent from happening?&#10;A) Abuse of genetic information in employment and health insurance decisions&#10;B) Genetic counselors from reporting results to the health insurance companies&#10;C) Mandatory genetics testing of all individuals with certain diseases&#10;D) Information sharing between biobanks that are studying the same genetic disorders

Accepted Answer

The answer of What was the Genetic Information Nondiscrimination Act...

Question 19

What is an example of direct-to-consumer genomic testing?&#10;A) Genetic testing through amniocentesis&#10;B) Paternity testing from buccal swabs of the child and father&#10;C) Biopsy of a lump for cancer&#10;D) Drug testing using hair follicles

Accepted Answer

The answer of What is an example of direct-to-consumer genomic...

Question 20

The process that is used to make polypeptide chains that constitute proteins can be written as:&#10;A) RNA &#8594; DNA &#8594; protein.&#10;B) DNA &#8594; RNA &#8594; protein.&#10;C) Protein &#8594; RNA &#8594; DNA.&#10;D) Protein &#8594; DNA &#8594; RNA.

Accepted Answer

The answer of The process that is used to make...

Deck 4: Genetic Issues