ADVANCED PATHOPHYSIOLOGY- UTMB 5355 EXAM
#1 (Chapter 1 & 2) 330 Questions| With Complete
Solutions
Transcription - correct answersynthesis of RNA from DNA
Transcription results in - correct answermRNA
RNA polymerase makes - correct answermRNA
mRNA - correct answermakes proteins
RNA polymerase - correct answerbinds to DNA
Transcription factors (TFs) - correct answerA regulatory protein that binds to DNA and affects transcription of specific genes. Can
wither activate or repress expression of genes
Termination of transcription - correct answerRNA polymerase reaches a terminator sequence (Stop codon) and detaches from the
template
Translation - correct answerProcess by which mRNA is decoded and a protein is produced. Protein assembly
Translation takes place in the - correct answercytoplasm
Codon - correct answerA specific sequence of three bases on a strand of DNA or RNA that provides genetic code information for a
amino acid
Amino acids are - correct answerbuilding blocks of proteins
tRNA - correct answerAn RNA molecule that functions as an interpreter between nucleic acid and protein language by picking up
specific amino acids and recognizing the appropriate codons in the mRNA
Codons allow - correct answerfor DNA and RNA to communicate
Gene Regulation - correct answerthe process of turning genes on and off
Gene Regulation occurs - correct answerduring transcription
Transcription factors (TFs) determine - correct answeramount of protein product made
Nucleotide - correct answerDNA subunit; 1 DNA, 1 phosphate, 1 nitrogenous base
Mutation - correct answerpermanent change in a DNA /RNA sequence that affects genetic information
germline mutation - correct answerhappens in germ cells, inheritable, in all cells
somatic mutation - correct answerA mutation that occurs in the body cells from spontaneous development. Cannot be inherited.
Acquired
causes of mutations - correct answer• Incorrect copying of the DNA sequence/
Environmental
•Exposure
•Spontaneous
silent mutation - correct answeralters a base but does not change the amino acid
DNA is - correct answermaster blueprint for human being
Gene - correct answerthe basic unit of inheritance
DNA makes - correct answerproteins
Chromosomes - correct answerthreadlike structures made of DNA molecules that contain the genes
23 pairs of - correct answerchromosomes
Allele - correct answervariant of a gene
A cell holds how many alleles of each gene? - correct answer2, one from mom and one from dad
Phenotype - correct answerAn organism's physical appearance, or visible traits. Affected by environment
Genotype - correct answergenetic makeup of an organism
locus - correct answerLocation of a gene on a chromosome
Homozygous - correct answerAn organism that has two identical alleles for a trait
Heterozygous - correct answerAn organism that has two different alleles for a trait
Recessive - correct answertrait of an organism that can be masked by the dominant form of a trait
Dominant - correct answerAn allele that is always expressed
Carrier - correct answerA person whose genotype includes a gene with disease that is not expressed in the phenotype.
Expresstivity - correct answerthe degree to which a particular genotype is expressed in the phenotype
Spontaneous mutations are - correct answermutation that occurs within the body cells and NOT the germline cells, caused by errors
in DNA
Mutagen - correct answerchemical or physical agents in the environment that increases frequency of mutations
Radiation is an example of what: - correct answera mutagen
Anticipation - correct answersigns and symptoms of genetic condition tend to become more severe and appear at an earlier age as
the disorder is passed from generation to generation
Huntington's disease is an example of - correct answerA disease affected by anticipation
reduced penetrance - correct answerwhen a person inherits a dominant mutant gene but fails to express it
Penetrance - correct answerThe percentage of individuals with a specific genotype who also express the expected phenotype
100% penetrance - correct answergene will always be expressed
autosomal dominant means - correct answerat least one parent is affected
Clinical onset is later in life for - correct answerautosomal dominant disorders
Inheritance of Autosomal Dominant - correct answer50% chance
autosomal recessive can be passed if - correct answertwo copies of an abnormal gene must be present in order for the disease or
trait to develop
, autosomal recessive disorders example - correct answerTay-Sachs, Cystic fibrosis, sickle cell anemia, phenylketonuria
Autosomal Recessive Inheritance - correct answerSkips generations,
25% of offsprings from 2 carrier parents affected.
Clinical onset earlier in life for: - correct answerautosomal recessive
What if a disorder exists in a offspring but parents are not carriers? - correct answerSpontaneous mutation
X-linked recessive disorders are - correct answerMutations on X chromosome
Males are more often affected by X linked disorders because - correct answermales only have one X chromosome
females have 2 ___ chromosomes - correct answerx
Mutations would have to occur in __ X chromosomes to be affected - correct answerboth
Fathers cannot pass __ disorders to sons - correct answerX-linked
X-linked recessive inheritance include: - correct answerNo male to male transmission.
Sons have a 50 % chance of being affected.
Daughters have 50% of being unaffected
Xlinked recessive disorder examples - correct answerhemophilia A, MD
2 copies of disease allele are required for females - correct answerto be affected by X linked recessive disorders
affected male - correct answerwill always transmit disease to daughter who will be carrier
incidence rate - correct answer# of new cases of a disease reported during a specific time period/number of individuals in the
population
prevalence rate - correct answerProportion of the population affected by a disease at a specific point in time, regardless of when the
disease began.
Relative Risk (RR) - correct answerThe ratio of the incidence rate of a disease or health outcome in an exposed group to the
incidence rate of the disease or condition in a non-exposed group.
Pharmacogenetics - correct answerstudy of how genes affect person's response to drugs
plavix resistance - correct answerexample of pharmacogenetics
precision medicine - correct answeran emerging approach for disease treatment and prevention that takes into account individual
variability in genes, environment, and lifestyle for each person
multifactorial disorders - correct answerGenetic influences combined with environmental factors
examples of multifactorial disorders - correct answerallergies, diabetes, coronary heart disease, infectious diseases
Human Genome Project - correct answerAn international collaborative effort to map and sequence the DNA of the entire human
genome.
Human Genome Goal - correct answerIdentify location of all human genes
Genome - correct answerall of an organism's genetic material
genetic testing - correct answerThe use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier
Newborn genetic testing - correct answerBlood test screens for phenylketonuria (PKU)
Diagnostic genetic testing - correct answerUsed to confirm a diagnosis when symptoms for a particular genetic condition are present
carrier genetic testing - correct answergenetic testing used to determine whether prospective parents are carriers of specific
disorders
prenatal genetic testing - correct answerperformed during pregnancy to assess health status of fetus; offered when there is
increased risk
Pre-implantation genetic diagnosis - correct answerRemoving a cell from an early embryo to test for specific genetic defects and
select healthy embryo for implantation
presymptomatic genetic testing - correct answerTests people to determine whether they have inherited a disease-causing gene
before the symptoms of the disease have appeared.
predictive gene testing - correct answeridentifies the risk for a disease before symptoms appear
gene therapy - correct answeruses genes to prevent disease or treat disease
Gene therapy involves: - correct answeradding a functioning version of the defective gene to the cells of an individual
genetic counseling - correct answerhealth service that provides information and support to people who have or may be at risk for
genetic disorders
genetic counselor - correct answerhelps individuals make informed decisions about healthcare and reproductive options, does not
advise people for or against personal decision
Reasons for genetic testing - correct answerfamily history
2 or more miscarriages
child living with GD
late age pregnancy
people related by blood
Epigenetics - correct answerthe study of environmental influences on gene expression that occur without a DNA change
A change in the ___ without a change in the ___ is epigenetics. - correct answerPhenotype, Genotype
Epigenetics and Cancer - correct answerAbnormal DNA methylation is associate with many
types of cancers
Epigenetic changes to DNA can alter gene
expression and contribute to cancer
Epigentics changes occur through __ - correct answergene regulation
DNA methylation - correct answeradding a methyl group to DNA
Methylation of DNA - correct answerinactivates genes or altered gene activity prevents binding of transcription factors or protein
production
Demethylation - correct answerRemoval of methyl group in that generally activates transcriptional activity or protein production
hypomethylation - correct answercells more active than normal causing genetic instability activation of oncogenes
Hypermethylation - correct answercells less active than normal thus decreasing ability to inhibit tumor formation
histone modification - correct answerchanges in the structure of histones that make it more or less likely that a segment of DNA will
be transcribed. Wraps around DNA
#1 (Chapter 1 & 2) 330 Questions| With Complete
Solutions
Transcription - correct answersynthesis of RNA from DNA
Transcription results in - correct answermRNA
RNA polymerase makes - correct answermRNA
mRNA - correct answermakes proteins
RNA polymerase - correct answerbinds to DNA
Transcription factors (TFs) - correct answerA regulatory protein that binds to DNA and affects transcription of specific genes. Can
wither activate or repress expression of genes
Termination of transcription - correct answerRNA polymerase reaches a terminator sequence (Stop codon) and detaches from the
template
Translation - correct answerProcess by which mRNA is decoded and a protein is produced. Protein assembly
Translation takes place in the - correct answercytoplasm
Codon - correct answerA specific sequence of three bases on a strand of DNA or RNA that provides genetic code information for a
amino acid
Amino acids are - correct answerbuilding blocks of proteins
tRNA - correct answerAn RNA molecule that functions as an interpreter between nucleic acid and protein language by picking up
specific amino acids and recognizing the appropriate codons in the mRNA
Codons allow - correct answerfor DNA and RNA to communicate
Gene Regulation - correct answerthe process of turning genes on and off
Gene Regulation occurs - correct answerduring transcription
Transcription factors (TFs) determine - correct answeramount of protein product made
Nucleotide - correct answerDNA subunit; 1 DNA, 1 phosphate, 1 nitrogenous base
Mutation - correct answerpermanent change in a DNA /RNA sequence that affects genetic information
germline mutation - correct answerhappens in germ cells, inheritable, in all cells
somatic mutation - correct answerA mutation that occurs in the body cells from spontaneous development. Cannot be inherited.
Acquired
causes of mutations - correct answer• Incorrect copying of the DNA sequence/
Environmental
•Exposure
•Spontaneous
silent mutation - correct answeralters a base but does not change the amino acid
DNA is - correct answermaster blueprint for human being
Gene - correct answerthe basic unit of inheritance
DNA makes - correct answerproteins
Chromosomes - correct answerthreadlike structures made of DNA molecules that contain the genes
23 pairs of - correct answerchromosomes
Allele - correct answervariant of a gene
A cell holds how many alleles of each gene? - correct answer2, one from mom and one from dad
Phenotype - correct answerAn organism's physical appearance, or visible traits. Affected by environment
Genotype - correct answergenetic makeup of an organism
locus - correct answerLocation of a gene on a chromosome
Homozygous - correct answerAn organism that has two identical alleles for a trait
Heterozygous - correct answerAn organism that has two different alleles for a trait
Recessive - correct answertrait of an organism that can be masked by the dominant form of a trait
Dominant - correct answerAn allele that is always expressed
Carrier - correct answerA person whose genotype includes a gene with disease that is not expressed in the phenotype.
Expresstivity - correct answerthe degree to which a particular genotype is expressed in the phenotype
Spontaneous mutations are - correct answermutation that occurs within the body cells and NOT the germline cells, caused by errors
in DNA
Mutagen - correct answerchemical or physical agents in the environment that increases frequency of mutations
Radiation is an example of what: - correct answera mutagen
Anticipation - correct answersigns and symptoms of genetic condition tend to become more severe and appear at an earlier age as
the disorder is passed from generation to generation
Huntington's disease is an example of - correct answerA disease affected by anticipation
reduced penetrance - correct answerwhen a person inherits a dominant mutant gene but fails to express it
Penetrance - correct answerThe percentage of individuals with a specific genotype who also express the expected phenotype
100% penetrance - correct answergene will always be expressed
autosomal dominant means - correct answerat least one parent is affected
Clinical onset is later in life for - correct answerautosomal dominant disorders
Inheritance of Autosomal Dominant - correct answer50% chance
autosomal recessive can be passed if - correct answertwo copies of an abnormal gene must be present in order for the disease or
trait to develop
, autosomal recessive disorders example - correct answerTay-Sachs, Cystic fibrosis, sickle cell anemia, phenylketonuria
Autosomal Recessive Inheritance - correct answerSkips generations,
25% of offsprings from 2 carrier parents affected.
Clinical onset earlier in life for: - correct answerautosomal recessive
What if a disorder exists in a offspring but parents are not carriers? - correct answerSpontaneous mutation
X-linked recessive disorders are - correct answerMutations on X chromosome
Males are more often affected by X linked disorders because - correct answermales only have one X chromosome
females have 2 ___ chromosomes - correct answerx
Mutations would have to occur in __ X chromosomes to be affected - correct answerboth
Fathers cannot pass __ disorders to sons - correct answerX-linked
X-linked recessive inheritance include: - correct answerNo male to male transmission.
Sons have a 50 % chance of being affected.
Daughters have 50% of being unaffected
Xlinked recessive disorder examples - correct answerhemophilia A, MD
2 copies of disease allele are required for females - correct answerto be affected by X linked recessive disorders
affected male - correct answerwill always transmit disease to daughter who will be carrier
incidence rate - correct answer# of new cases of a disease reported during a specific time period/number of individuals in the
population
prevalence rate - correct answerProportion of the population affected by a disease at a specific point in time, regardless of when the
disease began.
Relative Risk (RR) - correct answerThe ratio of the incidence rate of a disease or health outcome in an exposed group to the
incidence rate of the disease or condition in a non-exposed group.
Pharmacogenetics - correct answerstudy of how genes affect person's response to drugs
plavix resistance - correct answerexample of pharmacogenetics
precision medicine - correct answeran emerging approach for disease treatment and prevention that takes into account individual
variability in genes, environment, and lifestyle for each person
multifactorial disorders - correct answerGenetic influences combined with environmental factors
examples of multifactorial disorders - correct answerallergies, diabetes, coronary heart disease, infectious diseases
Human Genome Project - correct answerAn international collaborative effort to map and sequence the DNA of the entire human
genome.
Human Genome Goal - correct answerIdentify location of all human genes
Genome - correct answerall of an organism's genetic material
genetic testing - correct answerThe use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier
Newborn genetic testing - correct answerBlood test screens for phenylketonuria (PKU)
Diagnostic genetic testing - correct answerUsed to confirm a diagnosis when symptoms for a particular genetic condition are present
carrier genetic testing - correct answergenetic testing used to determine whether prospective parents are carriers of specific
disorders
prenatal genetic testing - correct answerperformed during pregnancy to assess health status of fetus; offered when there is
increased risk
Pre-implantation genetic diagnosis - correct answerRemoving a cell from an early embryo to test for specific genetic defects and
select healthy embryo for implantation
presymptomatic genetic testing - correct answerTests people to determine whether they have inherited a disease-causing gene
before the symptoms of the disease have appeared.
predictive gene testing - correct answeridentifies the risk for a disease before symptoms appear
gene therapy - correct answeruses genes to prevent disease or treat disease
Gene therapy involves: - correct answeradding a functioning version of the defective gene to the cells of an individual
genetic counseling - correct answerhealth service that provides information and support to people who have or may be at risk for
genetic disorders
genetic counselor - correct answerhelps individuals make informed decisions about healthcare and reproductive options, does not
advise people for or against personal decision
Reasons for genetic testing - correct answerfamily history
2 or more miscarriages
child living with GD
late age pregnancy
people related by blood
Epigenetics - correct answerthe study of environmental influences on gene expression that occur without a DNA change
A change in the ___ without a change in the ___ is epigenetics. - correct answerPhenotype, Genotype
Epigenetics and Cancer - correct answerAbnormal DNA methylation is associate with many
types of cancers
Epigenetic changes to DNA can alter gene
expression and contribute to cancer
Epigentics changes occur through __ - correct answergene regulation
DNA methylation - correct answeradding a methyl group to DNA
Methylation of DNA - correct answerinactivates genes or altered gene activity prevents binding of transcription factors or protein
production
Demethylation - correct answerRemoval of methyl group in that generally activates transcriptional activity or protein production
hypomethylation - correct answercells more active than normal causing genetic instability activation of oncogenes
Hypermethylation - correct answercells less active than normal thus decreasing ability to inhibit tumor formation
histone modification - correct answerchanges in the structure of histones that make it more or less likely that a segment of DNA will
be transcribed. Wraps around DNA
