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Committee Exam 4 > TEST 13 > Flashcards

TEST 13 Flashcards

1
Q

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

A

DNA replication

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2
Q

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)

A

Nucleotide excision repair (NER)

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3
Q

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)

A

Homologous recombination (HR)

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4
Q

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)

A

Nucleotide excision repair (NER)

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5
Q

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

A

Ultraviolet (UV) radiation

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6
Q

DNA repair mechanisms play a crucial role in maintaining the integrity of the _____________.

A

Genome

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7
Q

Point mutations involve changes in _________ nucleotide(s) in the DNA sequence.

A

Single

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8
Q

Frameshift mutations occur due to the insertion or deletion of nucleotides in multiples other than ________.

A

Three

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9
Q

Inherited colon cancer can be caused by mutations in the ________ gene.

A

APC (Adenomatous Polyposis Coli)

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10
Q

Trichothiodystrophy (TTD) is characterized by brittle ________ and intellectual disabilities.

A

Hair

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11
Q

Mutations can occur spontaneously or be induced by external factors. True or False?

A

True

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12
Q

Point mutations can lead to a change in a single amino acid in a protein sequence. True or False?

A

True

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13
Q

Deletion mutations always result in a frameshift. True or False?

A

False

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14
Q

Xeroderma pigmentosum (XP) is caused by defects in DNA repair mechanisms. True or False?

A

True

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15
Q

Mutations in the ATM gene lead to Ataxia Telangiectasia (AT), a disorder characterized by neurodegeneration and cancer susceptibility. True or False?

A

True

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16
Q

What type of mutation involves the substitution of one nucleotide for another in a DNA sequence?

A

Point mutation

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17
Q

Which type of mutation involves the insertion or deletion of nucleotides, shifting the reading frame?

A

Frameshift mutation

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18
Q

The insertion of additional nucleotides into a DNA sequence is an example of which type of mutation?

A

Insertion

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19
Q

The removal of nucleotides from a DNA sequence is an example of which type of mutation?

A

Deletion

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20
Q

Give an example of a point mutation that causes a change in the amino acid sequence of a protein.

A

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.

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21
Q

Genomics is the study of:
a) Individual genes
b) DNA sequencing methods
c) The entire set of genes in an organism
d) Protein interactions

A

The entire set of genes in an organism

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22
Q

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

A

Polymerase chain reaction (PCR)

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23
Q

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

A

Cutting and pasting DNA fragments into vectors

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24
Q

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

A

Order of nucleotides in a DNA molecule

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25
Q

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

A

Phenylalanine

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26
Q

CRISPR technology is a revolutionary gene ____________ tool.

A

Editing

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27
Q

The study of all the RNA molecules present in a cell is called ____________.

A

Transcriptomics

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28
Q

____________ is a process used to identify and analyze the proteins present in a biological sample.

A

Proteomics

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29
Q

____________ is the analysis of small molecules, such as metabolites, in a biological sample.

A

Metabolomics

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30
Q

DNA _________ is the process of making multiple copies of a specific DNA sequence.

A

Cloning

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31
Q

CRISPR technology allows precise editing of the genome by targeting specific DNA sequences. True or False?

A

True

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32
Q

The karyotype is a visual representation of an individual’s entire set of DNA sequences. True or False?

A

False

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33
Q

DNA sequencing methods can determine the order of nucleotides in a DNA molecule. True or False?

A

True

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34
Q

Gene silencing is a process that increases the expression of specific genes in cells. True or False?

A

False

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35
Q

Proteomics can be used in clinical settings to identify biomarkers for diseases. True or False?

A

True

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36
Q

Which omics technology could be useful in identifying potential drug targets for a specific genetic disorder?

A

Transcriptomics

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37
Q

Name the technology that allows for targeted gene editing to correct genetic defects in patients.

A

CRISPR technology

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38
Q

How can DNA sequencing be beneficial in diagnosing genetic disorders?

A

DNA sequencing can identify disease-causing mutations in genes associated with genetic disorders.

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39
Q

Which genetic disorder results from the accumulation of phenylalanine in the body due to the deficiency of an enzyme?

A

Phenylketonuria (PKU)

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40
Q

How does gene silencing play a role in treating genetic disorders?

A

Gene silencing can be used to reduce the expression of faulty genes responsible for genetic disorders.

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41
Q

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

A

Activation of gene expression by regulatory proteins

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42
Q

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

A

Inhibition of gene expression by regulatory proteins

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43
Q

Transcription factors are examples of:
a) Positive regulators
b) Negative regulators
c) Both positive and negative regulators
d) Non-regulatory proteins

A

Both positive and negative regulators

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44
Q

The lac operon in bacteria is an example of:
a) Positive regulation
b) Negative regulation
c) Both positive and negative regulation
d) No regulation

A

Negative regulation

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45
Q

In positive regulation, regulatory proteins bind to:
a) Enhancer regions
b) Silencer regions
c) Promoter regions
d) Repressor regions

A

Enhancer regions

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46
Q

Negative regulation of gene expression is achieved through the binding of ___________ to regulatory sequences in DNA.

A

Repressors

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47
Q

Positive regulation often involves the binding of ___________ to specific DNA sequences, enhancing transcription.

A

Activators

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48
Q

The binding of regulatory proteins to DNA is influenced by specific ___________ between the protein and DNA sequences.

A

Interactions

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49
Q

Negative regulation can occur by blocking the binding of ___________ to the promoter region, preventing transcription initiation.

A

RNA polymerase

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50
Q

Positive regulation can lead to an increase in ___________ of the target gene.

A

Expression

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51
Q

Positive regulation activates gene expression by enhancing the binding of RNA polymerase to the promoter region. True or False?

A

True

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52
Q

Negative regulation inhibits gene expression by preventing the binding of RNA polymerase to the promoter region. True or False?

A

True

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53
Q

Positive and negative regulation can occur simultaneously for the same gene. True or False?

A

True

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54
Q

Regulatory proteins bind to specific DNA sequences through non-specific interactions. True or False?

A

False

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55
Q

Positive regulation can result in an increased rate of transcription initiation. True or False?

A

True

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56
Q

How does positive regulation affect gene expression levels?

A

Positive regulation increases gene expression levels.

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57
Q

Name a well-known transcription factor involved in positive regulation.

A

c-Myc

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58
Q

How does negative regulation impact gene expression levels?

A

Negative regulation decreases gene expression levels.

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59
Q

What is the role of repressors in negative regulation?

A

Repressors bind to DNA and prevent or reduce transcription.

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60
Q

Give an example of a gene that is negatively regulated.

A

The p53 gene, involved in cell cycle regulation, is negatively regulated.

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61
Q

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

A

Detect genetic abnormalities or fetal conditions

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62
Q

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

A

Family history of genetic disorders

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63
Q

Non-invasive prenatal testing (NIPT) analyzes fetal DNA present in the mother’s:
a) Blood
b) Urine
c) Amniotic fluid
d) Cervical mucus

A

Blood

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64
Q

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

A

Amniocentesis

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65
Q

Preimplantation genetic diagnosis (PGD) is performed during:
a) Pregnancy
b) Fertilization
c) Embryo development
d) Labor and delivery

A

Embryo development

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66
Q

Ultrasonography uses __________ waves to produce images of the fetus and the mother’s reproductive organs.

A

Sound

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67
Q

One of the common indications for prenatal diagnosis is advanced __________ of the mother.

A

Maternal age

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68
Q

In amniocentesis, a sample of __________ is collected from the amniotic sac surrounding the fetus.

A

Amniotic fluid

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69
Q

Chorionic villus sampling (CVS) involves obtaining a sample of tissue from the __________ of the developing placenta.

A

Chorion

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70
Q

Non-invasive prenatal testing (NIPT) can detect certain genetic conditions by analyzing cell-free __________ in the maternal blood.

A

Fetal DNA

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71
Q

Prenatal diagnosis can detect chromosomal abnormalities and genetic disorders in the fetus. True or False?

A

True

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72
Q

Non-invasive prenatal testing (NIPT) carries no risk to the fetus as it involves analyzing the mother’s blood. True or False?

A

True

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73
Q

Amniocentesis and chorionic villus sampling (CVS) are invasive prenatal testing methods. True or False?

A

True

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74
Q

Preimplantation genetic diagnosis (PGD) is performed during pregnancy to detect genetic abnormalities in the fetus. True or False?

A

False

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75
Q

Ultrasonography is a safe and commonly used imaging technique during pregnancy. True or False?

A

True

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76
Q

Which prenatal testing method is typically performed between 10 and 13 weeks of pregnancy?

A

Chorionic villus sampling (CVS)

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77
Q

What is the primary advantage of non-invasive prenatal testing (NIPT) compared to invasive methods?

A

NIPT carries no risk of miscarriage.

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78
Q

Name a genetic condition that can be detected through amniocentesis or chorionic villus sampling (CVS).

A

Down syndrome (Trisomy 21)

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79
Q

What is the purpose of maternal serum screening during pregnancy?

A

Maternal serum screening assesses the risk of certain chromosomal abnormalities in the fetus.

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80
Q

How does ultrasonography help in prenatal care?

A

Ultrasonography provides visual images of the fetus, allowing assessment of fetal development and identification of any abnormalities.

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81
Q

Mutations are:
a) Heritable changes in DNA sequence
b) Temporary changes in DNA sequence
c) Changes that only affect somatic cells
d) Changes that only affect germline cells

A

Heritable changes in DNA sequence

82
Q

Chromosomal mutations involve alterations in:
a) Individual nucleotides
b) Single genes
c) Chromosome structure or number
d) DNA replication process

A

Chromosome structure or number

83
Q

Point mutations are characterized by:
a) Alterations in chromosome structure
b) Changes in a single nucleotide
c) Loss or gain of entire chromosome
d) Rearrangement of gene order

A

Changes in a single nucleotide

84
Q

Substitution mutation refers to:
a) Addition of nucleotides
b) Deletion of nucleotides
c) Replacement of one nucleotide with another
d) Rearrangement of chromosomal segments

A

Replacement of one nucleotide with another

85
Q

Frameshift mutation occurs due to:
a) Insertion or deletion of nucleotides
b) Replacement of one nucleotide with another
c) Translocation of chromosomal segments
d) Inversion of chromosome segment

A

Insertion or deletion of nucleotides

86
Q

Polymorphism refers to the presence of ___________ genetic variants in a population.

87
Q

Classification of genetic disorders is based on the mode of ___________.

A

Inheritance

88
Q

Single gene disorders are caused by mutations in a ___________ gene.

89
Q

Personalized medicine aims to provide customized ___________ based on an individual’s genetic makeup.

A

Treatments

90
Q

Mutations can have beneficial, neutral, or ___________ effects on an organism.

91
Q

Mutations can occur spontaneously or be induced by environmental factors. True or False?

92
Q

Chromosomal mutations can involve changes in the structure or number of chromosomes. True or False?

93
Q

Point mutations can result in the substitution, insertion, or deletion of nucleotides. True or False?

94
Q

Frameshift mutations always cause a change in the reading frame of the gene. True or False?

95
Q

Polymorphisms are always associated with disease conditions. True or False?

96
Q

Name one example of an autosomal recessive genetic disorder.

A

Cystic fibrosis

97
Q

Which genetic disorder is caused by a trinucleotide repeat expansion?

A

Huntington’s disease

98
Q

What is the classification of a genetic disorder that is caused by mutations in the sex chromosomes?

A

Sex-linked genetic disorder

99
Q

Name a chromosomal disorder that results from an extra copy of chromosome 21.

A

Down syndrome (Trisomy 21)

100
Q

How does personalized medicine utilize genetic information in treatment decisions?

A

Personalized medicine uses genetic data to tailor treatments and interventions according to an individual’s genetic profile.

101
Q

Gene therapy is an approach that involves:
a) Modifying proteins in the body
b) Modifying genes within the cells
c) Replacing all genes in an organism
d) Manipulating viruses to treat diseases

A

Modifying genes within the cells

102
Q

Recombinant DNA molecules are created by:
a) Combining DNA from different sources
b) Removing all DNA from a cell
c) Modifying RNA within the cell
d) Replacing genes in an organism

A

Combining DNA from different sources

103
Q

Gene transfection methods are used to:
a) Deliver genes into cells
b) Inhibit gene expression
c) Modify proteins within cells
d) Delete genes from an organism

A

Deliver genes into cells

104
Q

Protein therapy and gene therapy differ in that:
a) Protein therapy targets genes, while gene therapy targets proteins
b) Protein therapy modifies proteins, while gene therapy modifies genes
c) Protein therapy is more effective than gene therapy
d) Protein therapy and gene therapy are the same approach

A

Protein therapy modifies proteins, while gene therapy modifies genes

105
Q

Gene therapy has been successful in treating:
a) Cancer
b) Neurodegenerative diseases
c) Genetic disorders
d) All of the above

A

All of the above

106
Q

Gene therapy for Severe Combined Immunodeficiency (SCID) involves the insertion of a functional ___________ gene into the patient’s cells.

107
Q

In viro therapy utilizes ___________ to deliver therapeutic genes into target cells.

108
Q

Ex vivo therapy involves ___________ cells from a patient, genetically modifying them, and then reintroducing them back into the patient.

109
Q

One of the challenges in gene therapy is ensuring ___________ and long-term expression of the therapeutic gene.

110
Q

Gene inactivations can be achieved through the use of ___________ nucleases, which can target and disable specific genes.

A

Engineered

111
Q

Gene therapy involves the delivery of genetic material into cells to treat or prevent diseases. True or False?

112
Q

Recombinant DNA molecules are created by combining DNA from the same source. True or False?

113
Q

Gene transfection methods are used to deliver genes into cells and enable gene expression. True or False?

114
Q

Protein therapy is more commonly used than gene therapy in medical practice. True or False?

115
Q

Gene therapy has shown promising results in treating genetic disorders such as cystic fibrosis and hemophilia. True or False?

116
Q

What is the underlying cause of Severe Combined Immunodeficiency (SCID)?

A

Defects in immune system genes

117
Q

Name the viral vector commonly used in gene therapy for SCID.

A

Retrovirus or lentivirus

118
Q

How does gene therapy for SCID aim to restore immune function?

A

By introducing a functional copy of the defective gene into the patient’s cells

119
Q

What type of cells are typically targeted for gene therapy in SCID?

A

Hematopoietic stem cells

120
Q

What are the potential benefits of gene therapy for SCID patients?

A

Restoration of immune function and reduced susceptibility to infections

121
Q

Gregor Mendel conducted his experiments on inheritance using which plant species?
a) Pea plants
b) Rose plants
c) Tomato plants
d) Sunflower plants

A

Pea plants

122
Q

In modern terms, inheritance refers to the passing of genetic traits from:
a) Parent to offspring
b) Sibling to sibling
c) Grandparent to grandchild
d) Cousin to cousin

A

Parent to offspring

123
Q

The law of segregation states that:
a) Genes are located on chromosomes
b) Alleles separate during gamete formation
c) Offspring inherit traits from both parents
d) Dominant alleles are always expressed over recessive alleles

A

Alleles separate during gamete formation

124
Q

Mendel’s model of inheritance involved the concept of:
a) Blending of traits
b) Inheritance of acquired characteristics
c) Independent assortment of alleles
d) Direct transmission of traits

A

Independent assortment of alleles

125
Q

Punnett squares are used to:
a) Determine the probability of specific trait combinations in offspring
b) Determine the genetic code of an individual
c) Analyze the structure of chromosomes
d) Determine the dominance of a trait

A

Determine the probability of specific trait combinations in offspring

126
Q

In a testcross, an individual with the ___________ genotype is crossed with an individual with the recessive genotype.

127
Q

The law of independent assortment states that alleles for different traits segregate ___________ of each other during gamete formation.

A

Independently

128
Q

A monohybrid cross involves the inheritance of a single ___________.

129
Q

A dihybrid cross involves the inheritance of ___________ different traits.

130
Q

The degrees of dominance refer to the extent to which one allele’s phenotype is ___________ over another allele.

131
Q

Mendel’s experiments on pea plants led to the discovery of basic principles of inheritance. True or False?

132
Q

In Mendel’s model, each trait is controlled by a pair of alleles, one from each parent. True or False?

133
Q

Punnett squares are graphical representations used to predict the genotypes and phenotypes of offspring. True or False?

134
Q

In a testcross, an individual with a homozygous dominant genotype is crossed with an individual with a homozygous recessive genotype. True or False?

135
Q

The law of independent assortment states that alleles for different traits are always inherited together. True or False?

136
Q

In snapdragons, flower color is an example of:

A

Incomplete dominance

137
Q

What does codominance refer to?

A

Both alleles are expressed fully in the heterozygous condition.

138
Q

Pleiotropy refers to a phenomenon where:

A

A single gene influences multiple traits or characteristics.

139
Q

Epistasis occurs when:

A

The expression of one gene is dependent on the presence of another gene.

140
Q

Give an example of a trait in humans that exhibits codominance.

A

ABO blood type system

141
Q

Recombinant DNA technology involves the:
a) Extraction of DNA from a single source
b) Combination of DNA from different sources
c) Destruction of DNA within a cell
d) Amplification of RNA sequences

A

Combination of DNA from different sources

142
Q

DNA sequencing is a technique used to:
a) Determine the order of nucleotides in a DNA molecule
b) Measure the concentration of proteins in a sample
c) Identify specific genes in a genome
d) Visualize cellular structures using fluorescent dyes

A

Determine the order of nucleotides in a DNA molecule

143
Q

Karyotyping is a method used to:
a) Analyze DNA sequence variations
b) Visualize chromosomes and detect chromosomal abnormalities
c) Determine protein expression patterns
d) Amplify DNA fragments for cloning

A

Visualize chromosomes and detect chromosomal abnormalities

144
Q

Western blotting is a technique used to:
a) Visualize DNA fragments on a gel
b) Detect specific proteins in a sample
c) Determine the sequence of amino acids in a protein
d) Analyze gene expression patterns

A

Detect specific proteins in a sample

145
Q

The Southern blot technique is used to:
a) Analyze RNA molecules
b) Detect specific DNA sequences in a sample
c) Determine protein-protein interactions
d) Study the structure of lipids

A

Detect specific DNA sequences in a sample

146
Q

Confocal microscopy is a technique that provides ___________ resolution and optical sectioning of fluorescently labeled samples.

147
Q

In vivo imaging refers to the visualization of biological processes ___________ the living organism.

148
Q

Microarrays are tools used to study ___________ expression of thousands of genes simultaneously.

149
Q

DNA fingerprinting is a technique used to establish ___________ identity or genetic relationships between individuals.

150
Q

Recombinant DNA technology allows for the creation of genetically modified organisms. True or False?

151
Q

DNA sequencing can provide information about the order of nucleotides in a DNA molecule. True or False?

152
Q

Karyotyping can be used to detect chromosomal abnormalities such as Down syndrome. True or False?

153
Q

Western blotting allows for the detection of specific proteins in a sample based on their molecular weight. True or False?

154
Q

The Southern blot technique is used to analyze RNA molecules. True or False?

155
Q

Microarrays are used to study gene expression patterns but cannot analyze DNA sequence variations. True or False?

156
Q

What is the primary target of DNA fingerprinting?

A

Repeating DNA sequences (microsatellites or minisatellites)

157
Q

Name one application of DNA fingerprinting.

A

Forensic investigations

158
Q

DNA fingerprinting can be used to establish paternity or maternity. True or False?

159
Q

What is the basis of DNA fingerprinting technique?

A

Differences in the number and pattern of repeats in specific DNA sequences

160
Q

DNA fingerprinting relies on the use of which molecular biology technique?

A

Polymerase Chain Reaction (PCR)

161
Q

Microarrays can be used to study:

A

Gene expression patterns, single nucleotide polymorphisms (SNPs), and copy number variations (CNVs)

162
Q

DNA sequencing can provide information about genetic variations and mutations. True or false?

163
Q

Name one commonly used method for DNA sequencing.

A

Sanger sequencing or Next-generation sequencing (NGS)

164
Q

How does Sanger sequencing work?

A

It utilizes dideoxynucleotides to terminate DNA strand elongation and generates a set of fragments that represent the DNA sequence.

165
Q

Next-generation sequencing (NGS) techniques enable the sequencing of millions of DNA fragments simultaneously. True or False?

166
Q

The polymerase chain reaction (PCR) is a technique used to:
a) Amplify specific DNA sequences
b) Determine protein-protein interactions
c) Analyze RNA expression patterns
d) Visualize cellular structures

A

Amplify specific DNA sequences

167
Q

Flow cytometry is a method that enables:
a) Visualization of chromosomal abnormalities
b) Identification and sorting of cells based on their physical and chemical properties
c) Detection of specific protein-protein interactions
d) Analysis of lipid composition in biological samples

A

Identification and sorting of cells based on their physical and chemical properties

168
Q

Gel electrophoresis is a technique used to separate DNA fragments based on their ___________.

169
Q

Immunohistochemistry is a method used to visualize the presence and distribution of specific proteins in tissue samples. True or False?

170
Q

Fluorescence in situ hybridization (FISH) is a technique used to detect and localize specific DNA sequences within cells or tissue samples. True or False?

171
Q

Genetic variation can arise from:
a) Mutations
b) Environmental factors
c) Lifestyle choices
d) All of the above

172
Q

Genetic disorders can be categorized into:
a) Single gene disorders
b) Chromosomal disorders
c) Multifactorial disorders
d) All of the above

A

All of the above

173
Q

Mendelian disorders are caused by:
a) Mutations in a single gene
b) Changes in multiple genes
c) Environmental factors only
d) Chromosomal abnormalities

A

Mutations in a single gene

174
Q

Autosomal recessive (AR) inheritance refers to:
a) Inheritance of a trait on the X chromosome
b) Inheritance of a trait on the Y chromosome
c) Inheritance of a trait on any chromosome other than the sex chromosomes
d) Inheritance of a trait through mitochondrial DNA

A

Inheritance of a trait on any chromosome other than the sex chromosomes

175
Q

Consanguinity refers to:
a) The mating between individuals who are closely related
b) The mating between individuals who are unrelated
c) The mating between individuals of the same sex
d) The mating between individuals of different species

A

The mating between individuals who are closely related

176
Q

PKU (Phenylketonuria) is an autosomal ___________ disorder.

177
Q

Sickle cell anemia is caused by a mutation in the ___________ gene.

A

HBB (Beta-globin)

178
Q

Thalassemia is a group of ___________ disorders characterized by abnormal hemoglobin production.

179
Q

Galactosemia is an autosomal ___________ disorder that affects the metabolism of galactose.

180
Q

CF (Cystic Fibrosis) is caused by mutations in the ___________ gene.

A

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)

181
Q

Albinism is an autosomal recessive disorder characterized by a lack of pigmentation in the skin, hair, and eyes. True or False?

182
Q

Tay-Sachs disease is an autosomal dominant disorder. True or False?

183
Q

Familial Hypercholesterolemia (FH) is an autosomal recessive disorder affecting cholesterol metabolism. True or False?

184
Q

Osteogenesis Imperfecta (OI) is an autosomal recessive disorder characterized by brittle bones. True or False?

185
Q

Achondroplasia is an autosomal dominant disorder that results in dwarfism. True or False?

186
Q

Huntington’s disease is an autosomal recessive disorder. True or False?

187
Q

Marfan syndrome is an autosomal dominant disorder affecting the connective tissue. True or False?

188
Q

Diabetes Mellitus Type 1 (DM Type 1) is an autosomal dominant disorder. True or False?

189
Q

Hypertension (high blood pressure) is a genetic disorder. True or False?

190
Q

Obesity is primarily caused by genetic factors. True or False?

191
Q

Mental retardation can be caused by genetic factors. True or False?

192
Q

X-linked diseases are more commonly seen in males than females. True or False?

193
Q

Huntington’s disease is caused by a mutation in the:
a) BRCA1 gene
b) HTT gene
c) CFTR gene
d) LDLR gene

194
Q

Marfan syndrome affects the:
a) Nervous system
b) Respiratory system
c) Cardiovascular system
d) Digestive system

A

Cardiovascular system

195
Q

Diabetes Mellitus Type 1 (DM Type 1) is characterized by:
a) Insulin resistance
b) Deficient insulin production
c) Excess insulin production
d) Impaired glucose absorption

A

Deficient insulin production

196
Q

Obesity is a complex disorder influenced by:
a) Environmental factors only
b) Genetic factors only
c) Both genetic and environmental factors
d) Lifestyle choices only

A

Both genetic and environmental factors

197
Q

Mental retardation, also known as intellectual disability, can be caused by ___________ factors.

A

Genetic or environmental

198
Q

X-linked diseases are more commonly seen in females than males. True or False?

199
Q

Fragile X syndrome is a common X-linked disorder that causes intellectual disability. True or False?

200
Q

Hemophilia is an autosomal dominant disorder affecting blood clotting. True or False?

Committee Exam 4 (35 decks)

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