3.7 Genetics Quiz

How many chromosomes are present in a human somatic cell?

46
48
50
52
56

What is the term used to describe the presence of an extra chromosome in a cell?

Polyploidy
Aneuploidy
Hybridization
Mutation
Recombination

What is the term used to describe the exchange of genetic material between homologous chromosomes during meiosis?

Polyploidy
Aneuploidy
Hybridization
Mutation
Recombination

What is the term used to describe the presence of two or more sets of chromosomes in a cell?

Mutation
Hybridization
Aneuploidy
Polyploidy
Recombination

What is the process by which a single cell divides into two or more daughter cells?

Mitosis
Meiosis
Fermentation
Respiration
Translation

What type of cell division results in the formation of gametes with half the number of chromosomes as the parent cell?

Mitosis
Meiosis
Fermentation
Respiration
Translation

What is the term used to describe the process by which chromosomes condense and become visible during cell division?

Chromosome condensation
Chromosome duplication
Chromosome segregation
Chromosome alignment
Chromosome replication

What is the basic unit of heredity in a cell?

Gene
Chromosome
Nucleus
Mitochondria
Ribosome

What is the region of a gene that codes for a specific protein?

Promoter
Intron
Exon
Enhancer
Terminator

What is the region of a gene that regulates its expression by binding to regulatory proteins?

Promoter
Intron
Exon
Enhancer
Terminator

What is the process by which DNA is copied into RNA?

Translation
Replication
Transcription
Mutation
Degradation

What type of RNA polymerase is responsible for transcribing DNA into RNA in eukaryotic cells?

RNA polymerase I
RNA polymerase II
RNA polymerase III
RNA polymerase IV
RNA polymerase V

What is the process by which the DNA double helix opens to allow transcription to occur?

Replication
Translation
Transcription
Unwinding
Degradation

What is the process by which the genetic information in messenger RNA (mRNA) is translated into a protein?

Replication
Transcription
Degradation
Mutation
Translation

Which enzymes mediate the binding of tRNA with amino acids?

Aminoacyl synthetase
RNA polymerase
Reverse transcriptase
DNA polymerase
Helicase

What is the name of the molecule that carries the amino acids to the ribosome during translation?

Messenger RNA (mRNA)
Transfer RNA (tRNA)
Structural RNA (sRNA)
Regulatory RNA (rRNA)
Small interfering RNA (siRNA)

What is the name of the subunit in the ribosome that recognizes the codon in the mRNA and matches it to the correct amino acid?

Small subunit
Large subunit
Ribosomal RNA (rRNA)
Transfer RNA (tRNA)
Messenger RNA (mRNA)

What is the approximate size of the human genome?

50 MB
100 MB
3 GB
5 GB
10 GB

What is the basic unit of the human genome?

Chromosome
Gene
Base Pair
Nucleotide
Genome

What is the purpose of repetitive DNA elements in the human genome?

To provide stability to the genome
To regulate gene expression
To produce proteins
To store genetic information
To protect against mutations

What is the definition of autosomal dominant inheritance?

The gene is located on a sex chromosome
The gene is located on an autosome and only one copy is needed to express the trait
The gene is located on an autosome and two copies are needed to express the trait
The gene is located on a mitochondrial chromosome
The gene is located on a chloroplast chromosome

What is the definition of autosomal recessive inheritance?

The gene is located on a sex chromosome
The gene is located on an autosome and only one copy is needed to express the trait
The gene is located on an autosome and two copies are needed to express the trait
The gene is located on a mitochondrial chromosome
The gene is located on a chloroplast chromosome

What is the pattern of inheritance in which skipping one generation but reappearing on the next is commonly seen?

Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Mitochondrial

What is the definition of X-linked dominant inheritance?

The gene is located on a sex chromosome and only one copy is needed to express the trait
The gene is located on a sex chromosome and two copies are needed to express the trait
The gene is located on an autosome and only one copy is needed to express the trait
The gene is located on an autosome and two copies are needed to express the trait
The gene is located on a mitochondrial chromosome

In a certain genetic disorder, an individual has a dominant allele for a particular gene located on chromosome 7. If an affected individual has children with an unaffected individual, what is the expected pattern of inheritance for the offspring?

All offspring will be affected
50% of the offspring will be affected and 50% will be unaffected
All offspring will be unaffected
75% of the offspring will be affected and 25% will be unaffected
25% of the offspring will be affected and 75% will be unaffected

What is the probability of each child being affected if both parents suffer from an autosomal recessive disorder?

1
0.75
0.5
0.25
0

An individual with a genetic disorder caused by a recessive allele has children with a carrier of the same disorder. What is the expected pattern of inheritance for the offspring?

All offspring will be carriers
50% of the offspring will be carriers and 50% will be affected
All offspring will be unaffected
25% of the offspring will be carriers, 25% will be affected, and 50% will be unaffected
75% of the offspring will be carriers and 25% will be unaffected

What is the risk of a 39-year-old woman developing schizophrenia if her 45-year-old brother has the disorder according to DSM criteria?

1
0.75
0.49
0.24
10-15%

A particular genetic disorder is caused by a dominant allele located on chromosome 15. An affected individual has children with an unaffected individual. What is the expected pattern of inheritance for the offspring?

All offspring will be affected
50% of the offspring will be affected and 50% will be unaffected
All offspring will be carriers
75% of the offspring will be affected and 25% will be unaffected
25% of the offspring will be affected and 75% will be unaffected

What is the main difference between family and twin studies in the study of heritability?

Family studies examine the relationship between the environment and genetic factors, while twin studies focus on the influence of genetics alone.
Family studies examine the transmission of genetic factors from parent to offspring, while twin studies examine the influence of shared and non-shared environmental factors.
Family studies focus on the influence of shared and non-shared environmental factors, while twin studies examine the relationship between the environment and genetic factors.
Family studies examine the influence of shared environmental factors, while twin studies examine the influence of genetic and non-shared environmental factors.
Family studies examine the influence of non-shared environmental factors, while twin studies examine the relationship between genetics and shared environmental factors.

What is the primary advantage of adoption studies in the investigation of heritability?

Adoption studies provide a unique opportunity to compare the characteristics of adoptive families and biological families.
Adoption studies provide information on the relationship between genetics and the shared environment.
Adoption studies provide insight into the influence of non-shared environmental factors on development.
Adoption studies allow for the examination of both genetic and environmental factors in a single study.
Adoption studies allow for the separation of the effects of genetics and the environment on development.

What is the primary objective of twin studies in the study of heritability?

To determine the relative contributions of genetics and environment on development.
To evaluate the impact of shared environmental factors on development.
To examine the relationship between genetics and shared environmental factors.
To understand the effect of non-shared environmental factors on development.
To investigate the influence of genetics on development, while controlling for the effects of environment.

What is the primary method used in direct gene analysis to identify specific genes?

Restriction Fragment Length Polymorphism (RFLP)
Polymerase Chain Reaction (PCR)
Southern Blotting
Genome-Wide Association Studies (GWAS)
Fluorescent In Situ Hybridization (FISH)

What is the most commonly used direct gene analysis method for the detection of genetic mutations?

Direct Sequencing
Restriction Fragment Length Polymorphism (RFLP)
Polymerase Chain Reaction (PCR)
Genome-Wide Association Studies (GWAS)
Fluorescent In Situ Hybridization (FISH)

What is the primary advantage of direct gene analysis compared to linkage analysis methods?

The ability to identify specific genes and mutations
The ability to detect recessive genetic disorders
The ability to identify the underlying genetic cause of a disease
The ability to identify genetic mutations associated with a trait
The ability to study the genetic basis of complex traits

What is gene tracking?

The process of identifying and following the inheritance of specific genes in a population
The practice of monitoring the expression levels of a particular gene in response to environmental changes
The measurement of genetic variation in a population over time
The study of the molecular mechanisms underlying gene expression and regulation
The use of molecular tools to determine the genealogy of a species

How is gene tracking performed?

By sequencing the complete genome of each individual in a population
By analysing DNA samples from multiple individuals in a population to determine the presence of specific genetic markers
By examining the protein products produced by a gene in different individuals
By determining the DNA sequence of a specific gene in each individual in a population
By observing physical characteristics in individuals over time

What is the advantage of using genetic markers in population studies?

To understand the regulation of gene expression
To determine the sequence of a gene
To identify specific variations in DNA that are unique to a population
To track the effects of environmental factors
To analyse gene function

What is the purpose of linkage studies in genetics?

To determine the relationship between a particular gene and a phenotype
To map the location of a gene on a chromosome
To determine the frequency of a gene in a population
To determine the order of genes on a chromosome
To determine the function of a gene

What is the main difference between linkage studies and association studies?

Linkage studies focus on the inheritance of a gene within families, while association studies focus on the relationship between a gene and a phenotype in a population
Linkage studies focus on the relationship between a gene and a phenotype in a population, while association studies focus on the inheritance of a gene within families
Linkage studies focus on the location of a gene on a chromosome, while association studies focus on the frequency of a gene in a population
Linkage studies focus on the function of a gene, while association studies focus on the relationship between a gene and a phenotype in a population
Linkage studies focus on the interaction between genes, while association studies focus on the relationship between a gene and a phenotype in a population

What is the main purpose of using LOD scores in linkage analysis?

To identify genetic mutations causing a specific disease
To estimate the proportion of shared genes between relatives
To detect the presence of a disease in a family without knowing the exact gene responsible
To determine the probability of two genes being linked on the same chromosome
To evaluate the fitness of a population based on genetic variation

What does a positive LOD score indicate in a linkage study?

The loci are not linked
The loci are not related to each other
The loci are linked but could be far apart on the chromosome
The loci are not likely to be associated with the disease
The loci are linked and are likely to be physically close on the chromosome

What is the significance of negative LOD scores in linkage studies?

The loci are not linked
The loci are linked and are likely to be physically close on the chromosome
The loci are linked but could be far apart on the chromosome
The loci are not likely to be associated with the disease
The loci are not related to each other

What is the significance of a LOD score of 3 in linkage analysis?

It indicates a low degree of confidence that a locus is linked to a trait.
It indicates a moderate degree of confidence that a locus is linked to a trait.
It indicates a high degree of confidence that a locus is linked to a trait.
It indicates that a locus is not linked to a trait.
It indicates that the sample size is too small to determine the degree of linkage.

What is the primary aim of a genome-wide association study (GWAS)?

To identify common genetic variants associated with a specific disease or trait
To sequence the entire genome of an individual
To determine the heritability of a trait or disease
To understand the molecular mechanisms of a disease or trait
To compare the genetic differences between different populations

What is the unit of measurement for genetic linkage in genetics?

Nanomorgans
Picomorgans
Centimorgans
Decimorgans
Kilomorgans

How does a genome-wide association study differ from a linkage study?

A GWAS examines common variants across the entire genome, while a linkage study focuses on a specific region of the genome
A GWAS only examines the coding regions of genes, while a linkage study looks at the entire genome
A GWAS is performed on large groups of individuals, while a linkage study is performed on families
A GWAS is focused on identifying genetic associations with a trait or disease, while a linkage study is focused on identifying the location of a gene responsible for a trait or disease
A GWAS can only be performed on model organisms, while a linkage study can be performed on humans

What is a genetic variant?

A rare form of gene expression
A protein that is expressed differently in a population
A genetic mutation that occurs in a population
A DNA sequence that is different in a population
A form of gene regulation

What is the most common type of genetic variant?

Nucleotide substitutions
Frameshift mutations
Missense mutations
Nonsense mutations
Gene duplications

What is a polygenic risk score?

A score based on a single genetic variant that is associated with a particular trait
A score based on the presence of a particular gene in an individual's genome
A score based on an individual's personal and family medical history
A score based on environmental exposure
A score based on multiple genetic variants that are associated with a particular trait

What type of genetic influence on development is described as a phenomenon where a gene may increase or decrease the effect of an environmental exposure?

Direct genetic influence
Gene-environment interaction
Epigenetic changes
Gene expression
Recessive gene

What is the role of epigenetics in gene-environment interactions?

It regulates the expression of genes in response to environmental exposures
It modifies the structure of a gene without altering its sequence
It acts as a switch for gene expression
It is the primary mode of gene-environment interaction
It is not involved in gene-environment interactions

What type of genetic mutation can lead to an amino acid substitution in the resulting protein product?

Deletion
Duplication
Frameshift
Missense
Nonsense

What type of genetic mutation results in a premature stop codon in the coding sequence of a gene?

Frameshift
Duplication
Deletion
Missense
Nonsense

What type of genetic mutation occurs when one or more nucleotides are removed from the DNA sequence?

Missense
Duplication
Deletion
Frameshift
Nonsense

What type of genetic abnormality occurs when there is an extra copy of a chromosome?

Duplication
Deletion
Translocation
Inversion
None of the above

What type of genetic abnormality occurs when two separate chromosomes break and exchange segments with each other?

Translocation
Deletion
Duplication
Inversion
None of the above

When compared with the general population, how is the range of full-scale IQ in people with Turner syndrome shifted?

No shift
10-15 points lower
20-25 points lower
30-35 points lower
More than 35 points lower

Which of the following conditions is a result of a duplication of the short arm of chromosome 15?

Down syndrome
Klinefelter syndrome
Turner syndrome
Angelman syndrome
Prader-Willi syndrome

Which of the following conditions is caused by an extra copy of chromosome 21?

Down syndrome
Klinefelter syndrome
Turner syndrome
Angelman syndrome
Prader-Willi syndrome

What is the frequency of carriers of an autosomal recessive disorder that has an incidence of 1 in 5200 and is in Hardy-Weinberg equilibrium?

1 in 2600
1 in 5200
2 in 5200
1 in 13
2 in 13

What is the most common genetic mutation responsible for the onset of Huntington’s disease?

Autosomal recessive mutation
Autosomal dominant mutation
X-linked dominant mutation
X-linked recessive mutation
Mitochondrial mutation

What is the chromosomal composition of a foetus in which chromosome 21 nondisjunction occurs shortly after gamete fusion and fertilisation during an early mitotic cell division?

Normal 46 chromosomes
45 chromosomes
47 chromosomes
48 chromosomes
49 chromosomes

What is the typical karyotype of an individual with Klinefelter syndrome?

46,XX
46,XY
47,XXY
45,X
47,XXX

What is the most common chromosome abnormality associated with autism spectrum disorder?

Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Duplication of Chromosome 15
Deletion of Chromosome 22
None of the above

What is the most common chromosomal abnormality associated with schizophrenia?

Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Duplication of Chromosome 16
Deletion of Chromosome 23
None of the above

Which of the following conditions is associated with a Chromosome 22q11.2 deletion?

Down syndrome
Turner syndrome
Velocardiofacial syndrome (VCFS)
Williams syndrome
Fragile X syndrome

A patient with a history of behavioral issues has been diagnosed with a genetic abnormality affecting a specific chromosome. Which of the following is most likely to be the cause of the patient’s symptoms?

Trisomy 13
Monosomy X
Turner syndrome
Duplication of the X chromosome
Down syndrome

What is the main goal of genetic counselling?

To diagnose a genetic disorder
To provide medical treatment
To inform and educate individuals about the risks and implications of genetic conditions
To predict the outcome of a genetic disorder
To provide emotional support

What is the most efficient method for identifying carriers of a recessive genetic disorder in a population with a high carrier frequency?

Large scale genome-wide association studies
Direct gene analysis
Family history and pedigree analysis
Linkage analysis
Newborn screening

Which of the following methods is most coft effective and likely to be used to determine the genetic basis of a complex genetic disorder?

Linkage analysis
Exome sequencing
Single Nucleotide Polymorphism (SNP) arrays
Whole Genome sequencing
Mitochondrial DNA sequencing

What is the main function of restriction enzymes in molecular biology?

To amplify DNA sequences
To introduce mutations in DNA sequences
To cut DNA sequences at specific recognition sites
To increase the length of DNA sequences
To modify DNA sequences without changing their length

How does the presence of methylated sites in a DNA molecule impact the activity of restriction enzymes?

It does not affect their activity
It makes their activity stronger
It makes their activity weaker
It enhances the production of fragments
It inhibits the production of fragments

What is the significance of the recognition site sequence for restriction enzymes?

It determines the specificity of the restriction enzyme
It affects the efficiency of the enzymatic reaction
It determines the size of the produced fragments
It influences the binding affinity of the restriction enzyme
It determines the direction of the enzymatic reaction

What is the purpose of a gene probe in molecular biology?

To modify DNA sequences
To detect specific sequences in a sample of DNA
To replicate DNA
To amplify DNA
To transfer a gene into a host cell

n molecular cloning, what is the function of a plasmid?

To transfer a gene into a host cell
To replicate independently of the chromosomal DNA
To cut DNA at specific recognition sites
To modify DNA sequences
To amplify a specific region of DNA

What is the purpose of Southern blotting?

To determine the number of copies of a specific gene in a genome
To determine the relative molecular weight of a DNA fragment
To determine the sequence of a DNA fragment
To determine the location of a specific gene in a genome
To determine the pattern of banding of chromosomes in a genome

What is the first step in Southern blotting?

Transferring DNA fragments to a membrane
Electrophoresing DNA fragments
Hybridizing DNA with a complementary probe
Cutting DNA with restriction enzymes
Denaturing DNA

What is the role of restriction enzymes in Southern blotting?

To determine the number of copies of a specific gene in a genome
To determine the relative molecular weight of a DNA fragment
To cut the DNA into fragments for analysis
To determine the sequence of a DNA fragment
To determine the pattern of banding of chromosomes in a genome

What is the main purpose of using restriction fragment length polymorphisms (RFLPs) in genetic research?

To determine the differences in the sizes of restriction fragments between individuals.
To determine the differences in the number of restriction sites between individuals.
To determine the differences in the sequence of the genome between individuals.
To determine the differences in the regulation of gene expression between individuals.
To determine the differences in the regulation of DNA replication between individuals.

What is the basic principle behind Restriction Fragment Length Polymorphisms (RFLP)?

The use of radioactive probes
The use of restriction enzymes
The use of PCR amplification
The use of DNA hybridization
None of the above

Which of the following best describes molecular heterogeneity in psychiatry?

Refers to the difference in mental illness presentation in individuals with the same diagnosis
Refers to the difference in the incidence of mental disorders in different population groups
Refers to the variation in the expression of a single gene that causes a mental disorder
Refers to the difference in response to treatment in individuals with the same diagnosis
Refers to the presence of multiple genetic variations that contribute to the development of a mental disorder

Which of the following is the most common explanation for genetic heterogeneity in psychiatry?

Epigenetic changes
Structural mutations
Copy number variations
Single nucleotide polymorphisms
All of the above

What is phenotype/genotype correspondence?

The relationship between an individual's genetic make-up and their observable physical and behavioral characteristics
The relationship between an individual's environment and their observable physical and behavioral characteristics
The relationship between an individual's personality and their observable physical and behavioral characteristics
The relationship between an individual's culture and their observable physical and behavioral characteristics
The relationship between an individual's socioeconomic status and their observable physical and behavioral characteristics

How does the environment influence phenotype?

By affecting gene expression
By changing the genetic make-up of an organism
By altering the developmental trajectory of an organism
All of the above
None of the above

What is an endophenotype?

A genetic marker for a particular mental disorder
An intermediate phenotype that is more closely tied to underlying biology than the clinical phenotype
A genetic variant that is specific to a particular mental disorder
A behavioral phenotype that is unique to a particular mental disorder
None of the above

What is a biotype?

A genetic marker for a particular mental disorder
An intermediate phenotype that is more closely tied to underlying biology than the clinical phenotype
A genetic variant that is specific to a particular mental disorder
A behavioral phenotype that is unique to a particular mental disorder
A classification system that groups individuals based on their underlying biology

What is epigenetics?

The study of changes in gene expression caused by environmental factors
The study of changes in gene expression caused by genetic mutations
The study of changes in an organism's phenotype that are not caused by changes in the DNA sequence
The study of the structure and function of the genome
None of the above

What is the role of epigenetics in the development of mental disorders?

Epigenetics has no role in the development of mental disorders
Epigenetic changes play a significant role in the development of mental disorders
Epigenetic changes play a minor role in the development of mental disorders
The role of epigenetics in the development of mental disorders is not well understood
None of the above

Can epigenetic changes be reversible?

No, epigenetic changes are permanent
Yes, epigenetic changes can be reversed
It is not known if epigenetic changes can be reversed
It depends on the type of epigenetic change
None of the above

How can drugs modify epigenetics?

By altering the DNA sequence
By altering the expression of specific genes
By modifying the epigenetic marks on specific genes
By causing mutations in specific genes
None of the above

What is the most common type of drug used to modify epigenetics?

DNA methyltransferase inhibitors
Antipsychotics
RNA-binding proteins
Histone deacetylase inhibitors
MicroRNA inhibitors

What is gene modification/editing?

The process of introducing new genetic material into a genome
The process of deleting specific genes from a genome
The process of altering the DNA sequence of a specific gene
The process of introducing new epigenetic marks on a specific gene
None of the above

What are the potential risks of gene modification/editing?

Off-target effects
Unintended consequences
Ethical concerns
All of the above
None of the above

What does CRISPR stand for?

Clustered Regularly Interspaced Short Palindromic Repeats
Cytosine-rich Interrupted Short Palindromic Repeats
Clustered Regularly Interspaced Short Palindromic Regions
Cytosine-rich Interrupted Short Palindromic Regions
Clustered Regularly Intermediate Straight Palindromic Regions

What is CRISPR?

A virus-defence mechanism in bacteria
A gene editing tool
A new form of gene therapy
A diagnostic tool
A classification system

How does CRISPR work?

By introducing new genetic material into a genome
By using a specific RNA molecule to guide an enzyme to a specific location in the genome
By using a specific protein to modify the DNA sequence
By modifying the epigenetic marks on a specific gene
By inserting a plasmid into the DNA under investigation

What role do CRISPR-associated (Cas) genes play in the CRISPR system?

Cas genes provide the RNA-cutting enzymes needed for gene editing
Cas genes encode for RNA-targeting sequences
Cas genes are responsible for the regulation of the CRISPR system
Cas genes are involved in the uptake of viral DNA into the bacteria
Cas genes provide the final step in CRISPR

How many CRISPR-associated (Cas) genes are involved in the CRISPR system?

One
Two
Three
Four
More than four

What is the primary function of the CRISPR-associated (Cas) genes in the CRISPR system?

To provide RNA-targeting sequences
To encode for RNA-cutting enzymes
To regulate the CRISPR system
To protect bacteria from invading viruses
All of the above

Which method of precision genome engineering is considered to be the most efficient and cost-effective?

Zinc finger nucleases (ZFNs)
Transcription activator-like effector nucleases (TALENs)
Clustered regularly interspaced short palindromic repeats (CRISPR)
Meganucleases
RNA-guided endonucleases

What is the mechanism of action for TALENs in precision genome engineering?

RNA-guided endonucleases
Zinc finger-based DNA binding
Hybridization-based DNA binding
RNA-directed DNA modification
Programmable DNA binding

Which type of precision genome engineering has been used for both therapeutic and research purposes?

Meganucleases
Zinc finger nucleases (ZFNs)
Transcription activator-like effector nucleases (TALENs)
Clustered regularly interspaced short palindromic repeats (CRISPR)
RNA-guided endonucleases

What is the primary advantage of using Zinc Finger Nucleases (ZFNs) over other methods of precision genome engineering?

Ease of use
Cost-effectiveness
High specificity
Large scale genome modifications
Increased efficiency

What is the primary disadvantage of using Zinc Finger Nucleases (ZFNs) compared to other methods of precision genome engineering?

High specificity
Cost-effectiveness
Ease of use
Limited scalability
Increased efficiency

Which of the following phases of the cell cycle is associated with cell division?

G0 phase
G1 phase
S phase
G2 phase
Mitosis

How many daughter cells are produced at the end of a complete meiosis of one human cell?

One
Two
Four
Eight
Sixteen

Both the mother and paternal aunt of a 22 year-old adult are alcoholics. This man’s risk of alcoholism is multiplied by a factor of how much when compared to the general population?

1x
2x
3.5x
4x
8x

What is the phenomenon referred to when a patient with schizophrenia is more likely to marry someone with a psychiatric problem or substance use?

Assortative mating
Consanguinity
Inbreeding
Hybridization
Non-random mating

In which part of chromosomes does the fusion usually occur in Robertsonian translocation?

Centromere
Telomere
Short arm
Long arm
Interstitial region

A patient in outpatient learning disability clinic presents with macroorchidism, large ears, prominent jaw, a high-pitched voice, and mental retardation, which of the following trinucleotide repeats is likely to be found?

CAG
CAA
GCC
GGC
CGG

What phenomenon explains most of the epigenetic variations?

DNA Methylation and histone modification
Chromatin remodelling
Non-coding RNA
Gene duplication
Phosphorylation

Following synthesis, proteins inside the cell are stored temporarily in which cellular compartment?

Ribosomes
Endoplasmic reticulum
Golgi complex
Mitochondria
Lysosomes

A 52 year-old gentleman is diagnosed with cognitive impairment by his GP and is referred to your old age psychiatry clinic. The family history suggests that individuals in the most recent generations of the family pedigree have developed a variety of psychiatric disturbances at an earlier age and with a greater severity than previous generations. Which diagnosis best fits the above descriptions?

Huntington's disease
Downs syndrome
Velocardiofacial syndrome (VCFS)
Dementia
Bipolar affective disorder

What is the primary factor that determines the age of onset and progression of Huntington’s disease in successive generations?

Parental age at the time of conception
Environmental exposure
Random genetic mutations
Family history of Huntington's disease
Number of CAG trinucleotide repeats in the HTT gene

What is the role of introns in gene expression?

Introns are transcribed but not translated
Introns are spliced out and degraded
Introns are translated into functional proteins
Introns stabilize the mRNA molecule
Introns serve as regulatory elements

How are exons and introns related to each other in the gene expression process?

Exons are transcribed while introns are translated
Exons are spliced out while introns are translated
Exons are translated while introns are spliced out
Exons are degraded while introns are spliced out
Exons are spliced out while introns are degraded

Which of the following best describes the function of exons in gene expression?

Exons serve as regulatory elements
Exons stabilize the mRNA molecule
Exons are translated into functional proteins
Exons are degraded before translation
Exons are transcribed but not translated

What is the most common method used to examine chromosomes in a cell?

Microscopy
Polymerase Chain Reaction (PCR)
Karyotyping
Gel Electrophoresis
DNA sequencing

What is the term used to describe the phenomenon in which the same disease phenotype is caused by mutations in different loci?

Allelic heterogeneity
Genotypic heterogeneity
Phenotypic heterogeneity
Linkage disequilibrium
Linkage analysis

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