TEST 13 Flashcards
Which of the following is NOT a type of DNA damage?
a) Oxidative damage
b) Single-strand breaks
c) Double-strand breaks
d) DNA replication
DNA replication
Which type of DNA repair mechanism is responsible for correcting UV-induced thymine dimers?
a) Base excision repair (BER)
b) Nucleotide excision repair (NER)
c) Mismatch repair (MMR)
d) Homologous recombination (HR)
Nucleotide excision repair (NER)
The process of repairing a DNA double-strand break by using an undamaged identical DNA sequence as a template is called:
a) Non-homologous end joining (NHEJ)
b) Homologous recombination (HR)
c) Base excision repair (BER)
d) Mismatch repair (MMR)
Homologous recombination (HR)
Trichothiodystrophy (TTD) is a DNA repair disorder caused by mutations in genes involved in:
a) Nucleotide excision repair (NER)
b) Mismatch repair (MMR)
c) Base excision repair (BER)
d) Non-homologous end joining (NHEJ)
Nucleotide excision repair (NER)
Xeroderma pigmentosum (XP) is an inherited disorder characterized by extreme sensitivity to:
a) Ionizing radiation
b) Ultraviolet (UV) radiation
c) Chemical mutagens
d) DNA replication errors
Ultraviolet (UV) radiation
DNA repair mechanisms play a crucial role in maintaining the integrity of the _____________.
Genome
Point mutations involve changes in _________ nucleotide(s) in the DNA sequence.
Single
Frameshift mutations occur due to the insertion or deletion of nucleotides in multiples other than ________.
Three
Inherited colon cancer can be caused by mutations in the ________ gene.
APC (Adenomatous Polyposis Coli)
Trichothiodystrophy (TTD) is characterized by brittle ________ and intellectual disabilities.
Hair
Mutations can occur spontaneously or be induced by external factors. True or False?
True
Point mutations can lead to a change in a single amino acid in a protein sequence. True or False?
True
Deletion mutations always result in a frameshift. True or False?
False
Xeroderma pigmentosum (XP) is caused by defects in DNA repair mechanisms. True or False?
True
Mutations in the ATM gene lead to Ataxia Telangiectasia (AT), a disorder characterized by neurodegeneration and cancer susceptibility. True or False?
True
What type of mutation involves the substitution of one nucleotide for another in a DNA sequence?
Point mutation
Which type of mutation involves the insertion or deletion of nucleotides, shifting the reading frame?
Frameshift mutation
The insertion of additional nucleotides into a DNA sequence is an example of which type of mutation?
Insertion
The removal of nucleotides from a DNA sequence is an example of which type of mutation?
Deletion
Give an example of a point mutation that causes a change in the amino acid sequence of a protein.
One example is the substitution of adenine (A) with cytosine (C) in the DNA sequence, resulting in the replacement of the amino acid valine with glutamine in the protein, causing sickle cell anemia.
Genomics is the study of:
a) Individual genes
b) DNA sequencing methods
c) The entire set of genes in an organism
d) Protein interactions
The entire set of genes in an organism
Which technique allows the amplification of specific DNA sequences and is commonly used in genetic engineering?
a) DNA sequencing
b) Polymerase chain reaction (PCR)
c) DNA microarray
d) Gel electrophoresis
Polymerase chain reaction (PCR)
DNA cloning involves:
a) Determining the sequence of DNA bases
b) Cutting and pasting DNA fragments into vectors
c) Studying the expression of genes
d) Analyzing protein interactions
Cutting and pasting DNA fragments into vectors
DNA sequencing determines the:
a) Number of chromosomes in a cell
b) Order of nucleotides in a DNA molecule
c) Presence of mutations in genes
d) Expression level of genes
Order of nucleotides in a DNA molecule
Phenylketonuria (PKU) is a genetic disorder caused by the deficiency of an enzyme involved in the metabolism of:
a) Lactose
b) Phenylalanine
c) Glucose
d) Glycine
Phenylalanine
CRISPR technology is a revolutionary gene ____________ tool.
Editing
The study of all the RNA molecules present in a cell is called ____________.
Transcriptomics
____________ is a process used to identify and analyze the proteins present in a biological sample.
Proteomics
____________ is the analysis of small molecules, such as metabolites, in a biological sample.
Metabolomics
DNA _________ is the process of making multiple copies of a specific DNA sequence.
Cloning
CRISPR technology allows precise editing of the genome by targeting specific DNA sequences. True or False?
True
The karyotype is a visual representation of an individual’s entire set of DNA sequences. True or False?
False
DNA sequencing methods can determine the order of nucleotides in a DNA molecule. True or False?
True
Gene silencing is a process that increases the expression of specific genes in cells. True or False?
False
Proteomics can be used in clinical settings to identify biomarkers for diseases. True or False?
True
Which omics technology could be useful in identifying potential drug targets for a specific genetic disorder?
Transcriptomics
Name the technology that allows for targeted gene editing to correct genetic defects in patients.
CRISPR technology
How can DNA sequencing be beneficial in diagnosing genetic disorders?
DNA sequencing can identify disease-causing mutations in genes associated with genetic disorders.
Which genetic disorder results from the accumulation of phenylalanine in the body due to the deficiency of an enzyme?
Phenylketonuria (PKU)
How does gene silencing play a role in treating genetic disorders?
Gene silencing can be used to reduce the expression of faulty genes responsible for genetic disorders.
Positive regulation of gene expression refers to:
a) Activation of gene expression by regulatory proteins
b) Inhibition of gene expression by regulatory proteins
c) Random fluctuations in gene expression
d) Inactivation of the gene promoter
Activation of gene expression by regulatory proteins
Negative regulation of gene expression refers to:
a) Activation of gene expression by regulatory proteins
b) Inhibition of gene expression by regulatory proteins
c) Random fluctuations in gene expression
d) Inactivation of the gene promoter
Inhibition of gene expression by regulatory proteins
Transcription factors are examples of:
a) Positive regulators
b) Negative regulators
c) Both positive and negative regulators
d) Non-regulatory proteins
Both positive and negative regulators
The lac operon in bacteria is an example of:
a) Positive regulation
b) Negative regulation
c) Both positive and negative regulation
d) No regulation
Negative regulation
In positive regulation, regulatory proteins bind to:
a) Enhancer regions
b) Silencer regions
c) Promoter regions
d) Repressor regions
Enhancer regions
Negative regulation of gene expression is achieved through the binding of ___________ to regulatory sequences in DNA.
Repressors
Positive regulation often involves the binding of ___________ to specific DNA sequences, enhancing transcription.
Activators
The binding of regulatory proteins to DNA is influenced by specific ___________ between the protein and DNA sequences.
Interactions
Negative regulation can occur by blocking the binding of ___________ to the promoter region, preventing transcription initiation.
RNA polymerase
Positive regulation can lead to an increase in ___________ of the target gene.
Expression
Positive regulation activates gene expression by enhancing the binding of RNA polymerase to the promoter region. True or False?
True
Negative regulation inhibits gene expression by preventing the binding of RNA polymerase to the promoter region. True or False?
True
Positive and negative regulation can occur simultaneously for the same gene. True or False?
True
Regulatory proteins bind to specific DNA sequences through non-specific interactions. True or False?
False
Positive regulation can result in an increased rate of transcription initiation. True or False?
True
How does positive regulation affect gene expression levels?
Positive regulation increases gene expression levels.
Name a well-known transcription factor involved in positive regulation.
c-Myc
How does negative regulation impact gene expression levels?
Negative regulation decreases gene expression levels.
What is the role of repressors in negative regulation?
Repressors bind to DNA and prevent or reduce transcription.
Give an example of a gene that is negatively regulated.
The p53 gene, involved in cell cycle regulation, is negatively regulated.
Prenatal diagnosis is performed to:
a) Determine the sex of the fetus
b) Detect genetic abnormalities or fetal conditions
c) Predict the birth weight of the baby
d) Assess the mother’s health during pregnancy
Detect genetic abnormalities or fetal conditions
Which of the following is an indication for prenatal diagnosis?
a) Maternal age below 30 years
b) Routine prenatal care visits
c) Family history of genetic disorders
d) Mother’s desire for gender determination
Family history of genetic disorders
Non-invasive prenatal testing (NIPT) analyzes fetal DNA present in the mother’s:
a) Blood
b) Urine
c) Amniotic fluid
d) Cervical mucus
Blood
Which prenatal testing method involves analyzing fetal cells obtained through a needle inserted into the uterus?
a) Amniocentesis
b) Chorionic villus sampling (CVS)
c) Non-invasive prenatal testing (NIPT)
d) Maternal serum screening
Amniocentesis
Preimplantation genetic diagnosis (PGD) is performed during:
a) Pregnancy
b) Fertilization
c) Embryo development
d) Labor and delivery
Embryo development
Ultrasonography uses __________ waves to produce images of the fetus and the mother’s reproductive organs.
Sound
One of the common indications for prenatal diagnosis is advanced __________ of the mother.
Maternal age
In amniocentesis, a sample of __________ is collected from the amniotic sac surrounding the fetus.
Amniotic fluid
Chorionic villus sampling (CVS) involves obtaining a sample of tissue from the __________ of the developing placenta.
Chorion
Non-invasive prenatal testing (NIPT) can detect certain genetic conditions by analyzing cell-free __________ in the maternal blood.
Fetal DNA
Prenatal diagnosis can detect chromosomal abnormalities and genetic disorders in the fetus. True or False?
True
Non-invasive prenatal testing (NIPT) carries no risk to the fetus as it involves analyzing the mother’s blood. True or False?
True
Amniocentesis and chorionic villus sampling (CVS) are invasive prenatal testing methods. True or False?
True
Preimplantation genetic diagnosis (PGD) is performed during pregnancy to detect genetic abnormalities in the fetus. True or False?
False
Ultrasonography is a safe and commonly used imaging technique during pregnancy. True or False?
True
Which prenatal testing method is typically performed between 10 and 13 weeks of pregnancy?
Chorionic villus sampling (CVS)
What is the primary advantage of non-invasive prenatal testing (NIPT) compared to invasive methods?
NIPT carries no risk of miscarriage.
Name a genetic condition that can be detected through amniocentesis or chorionic villus sampling (CVS).
Down syndrome (Trisomy 21)
What is the purpose of maternal serum screening during pregnancy?
Maternal serum screening assesses the risk of certain chromosomal abnormalities in the fetus.
How does ultrasonography help in prenatal care?
Ultrasonography provides visual images of the fetus, allowing assessment of fetal development and identification of any abnormalities.