Pathophysiology Exam 1

tusaraki's version from 2015-08-23 16:14

Section 1

Question Answer
4 bases of DNAGuanine, Cytosine, Adenine, Thymine
Backbone of DNA made up ofsugar and phosphate
A gene is the basic functional unit of ____heredity
A gene is a part of a chromosome which determines a certain _____trait
A gene is a _____ of DNA sequencestretch
The part of a gene that actually encodes a proteinOpen reading frame
The complete set of genetic info of an organism, including all of its GENESGenome
The genetic makeup of the organism with reference to the trait under considerationGenotype
Physical manifestation of the genotypePhenotype
Are all genotypes manifested?no
Different forms of same genealleles
2 examples of same geneeye color, hair color
Multiple ____ of a given gene within a ____ often with different phenotypes is Polymorphismalleles, population
Polymorphism within at least what percentage of population?1%
The study of a single gene and what it doesgenetics
The study of the functions and interactions of all the genes in the genomeGenomics
Study of all genes in the genome related to drug therapyPharmacogenomics

Section 2

Question Answer
Most somatic cells have _________ chromosomes46
Most somatic cells haploid or diploid?diploid
How many pairs of somatic cells?23
How many pairs of sex chromosomes?1
XX in ____ XY in ____females, males
Germ cells are ____ and ____ cellssperm, ovum
Germ cells are haploid or diploid?haploid
How many chromosomes in germ cells? 23
Mitochondrial DNA abbreviationmtDNA
mtDNA: _________ genomes, ___ genes for ___ peptides1, 37, 13
mtDNA other proteins from genes of the ____ ______46 chromosomes

Section 3

Question Answer
Almost all cells in body has ____/____DNA, genes
Almost all cells in the body has the ____ DNA and genessame
Notable exception to having same DNA and genes: germ cells
Different cells have different properties and different activities largely due to different _____proteins
Different _____ ("turning on", "up-regulation") of genesactivation
Different _____ ("turning off", "down-regulation") of genesinactivation
Gene mutation: changes in the ________ of genesnucleotide sequence
3 ways genes can be mutatedEnvironmental damage to DNA, DNA replication errors, Errors in DNA repair
3 examples of environmental damage to DNAUV light, ionizing radiation, chemicals
No phenotype changesilent mutation
Gene mutations can change the _____ of mutated genesproteins
3 ways changing the genes changes proteinsAlleles, Loss of function of proteins, loss of regulation of protein activities
Gene mutations can be passed on if not corrected. T or F?T
3 diseases caused by gene mutationsGenetic Diseases, Cancer, Autoimmune disease
2 examples of genetic diseaseCystic Fibrosis, Sickle Anemia
4 ways chromosomal structure can be modifieddeletions, translocations, duplications, inversions

Section 4

Question Answer
Chromosomal changes occur during _____meiosis
2N --> Nmeiosis
Most daughter cells ___ ____ chromosome number abnromalitiescannot survive
Excess of chromosomes: most commonly survived with what 3 chromosomes13,18,21
3 copies of chromosomes instead of normal 2 copiestrisomy
Chromosome 21 trisomyDown Syndrome
2 X-chromosomes present in malesKlinefelter's syndrome
Only 1 X chromosome in females (Disease)Some cases of Turner syndrome

Section 5

Question Answer
No variation of a gene within the individual (i.e. no different alleles)Homozygous
Variations of same gene within the individual (i.e. different alleles)Heterozygous
The genes being investigated is/are located on one of the 22 pairs of autosomesAutosomal
The genes are located on the X or Y chromosomeSex-linked
_________-Chromosome diseases are very rareY
Mitochondria are ____ and have their own DNAmaternal
Manifest in individuals with just one copy of the mutant alleleAutosomal Dominant Inheritance
Males and females have an equally likely chance of inheriting the mutant allele and being affectedAutosomal Dominant Inheritance and Autosomal Recessive Inheritance
Only manifest in individuals who have two copies of the mutant alleleAutosomal Recessive Inheritance
X-Linked dominant affects primarily _____, the other sex rarely survive past birthfemales
Rett syndrome is an ________ inheritanceX-Linked dominant
X-Linked ______ affects more males usuallyrecessive
2 examples of X-Linked Recessive diseaseHemophilia A, color blindness
Mitochondria are only passed on from ____/___ cellovum, egg
Only ____ pass mutations of mitochondrial DNA onto their offspringfemales

Section 6

Question Answer
Non-penetrance: The ____ character in a heterozygous person does not _____ for a ______ or some parts of _____dominant, manifest, generation, life
The dominant character in a heterozygous person does not manifest (“show up”) for a generation or some parts of life Non-penetrance
Normally a dominant character should manifest ____% of the time over all generations100
The dominant character in a heterozygous person becomes more severe or have earlier onset in successive generationsanticipation
Some genes are marked according to whether they originate from father or motherimprinting
Imprinting aka genomic imprinting
The imprinted genes do or do not manifest?do not
Imprinted genes that dont manifest are inactivated
Imprinting is an example of _____epigenetics

Section 7

Question Answer
The mechanism of living cells to extract, convert and store energy and some essential chemicals from nutrientsmetabolism
Diseases due to abnormalities of genes or chromosomes that partake in metabolisminborn errors of metabolism
Inborn errors of metabolism: Defects in ____ that metabolize food components into necessary chemicals for lifeenzymes
When are most inborn errors of metabolism detected?before or at birth
Inborn errors of metabolism are very ____rare
Cystic Fibrosis: Inborn error of metabolism or no?no
Cystic Fibrosis is a _____ genetic diseasechronic
CF causes what 2 things?Thick, sticky mucus build up and salty sweat on skin
CF causes what on skin thick, stick mucus to build up where?lungs and digestive tract
CF affects especially which race?caucasian
CF affect males or females more?equal
CF has 1 in ______ patients in US born with CF4000
CF is ____fatal
May cause premature deathfatal
CF curable? no
CF can be managed to prolong ____life
CF caused by mutations of gene on chromosome ___7
CF mutation on chromosome that encodes the ___ proteinCFTR
CFTR is:cystic fibrosis transmembrane conductance regulator
CF is a ________ diseaseautosomal recessive
How many defective copies of CFTR gene for CF?2
Parents usually do or do not have CFdo not
parents are _____ for CFcarriers
Risk factors for CFfamily history, N. European ancestry
Disease course for CFearly onset, chronic, progressive over time
CF is a cell surface ____ channel (protein) involved in production and viscosity of sweat, digestive secretions and mucuschloride
Cell surface chloride channel involved in production and viscosity of what three things?sweat, digestive secretions, and mucus
CFTR: In sweat glands movement of chloride from sweat ____ the cell cytoplasm (salt ____)into, absorption
CFTR: In other tissues, movement of chloride ___ the cellout of
Chloride movement facilitates Sodium movement, this affects water movement, as sodium con. changes, water follows and ______ the mucus/secretionthins out
CFTR located on the _____ cellsepithelial
CFTR located on the epithelial cells of:Airways, intestinal tract, pancreatic ducts, hepatobiliary tree, sweat ducts (skin), Vas deferens

Section 8

Question Answer
Genetic changes of the CFTR gene resulting in _________dysfunctional CFTR protein
CFTR gene has how many genotypesover 1200
_____ trapped in affected cells and on skin surfacechloride
Disruption of chloride/sodium composition of affected body area _____fluids
an example of a CF testSweat with high chloride
Most common CF mutationDelta F508
Most common CF mutation is a _________ base-pair deletion3
Absence symbol triangle
Absence of the ______ residue at position 508 of the CFTR proteinPhenylalanine
Delta F508 present in approx ___% of patients in US70

Section 9

Question Answer
Pancreas: retention of _____ enzymes and destruction of ______ tissuedigestive, pancreatic
Intestine: small and large ____ obstructionbowel
Hepatobiliary system: ______ biliary secretions, _____thickened, cirrhosis
Another effect of the GI tractmalnutrition
Skin: unable to absorb ___ and ___ from sweatNa, Cl
Airways: ____ of mucus, ____ volume of liquid on airway surfaces, _____ of mucus to airway surfacethickening, reduce, adhesion
Airways: ______, repeated infection by bacteriachronic
Two of most pathogenic bacteria that infect airwaysS. aureus, P. aeruginosa
Very common, CF impairs ____fertility

Section 10

Question Answer
CF complications are highly _____variable
Fat/oil drops in stoolsteatorrhea
Shortness of breathDyspnea
Recurrent respiratory tract infectionsSinusitis, otitis media, bronchitis, pneumonia
Most common cause of death in CF patientsRecurrent respiratory tract infections
Malabsorption of fats, proteins, and some carbsmalnutrition
Malnutrition includes ___-soluble vitamin deficiencyfat
Poor weight gain and physical growth failure despite adequate appetite and nutrition intakefailure to thrive
Lack of menstrual bleedingamenorrhea

Section 11

Question Answer
The branch of medical field that specializeds in the study treatment, and research of neoplastic diseasesOncology
The process by which normal cells are transformed into neoplastic cellsCarcinogenesis
Solid Neoplasiatumors
4 organs that can have tumorsLung, colorectal, breast, brain
Neoplasia is _____ growth of cells and tissues that have uncontrolled cell ______, have escaped normal restrictions on cell _____, exhibit varying degrees of fidelity to their ______autonomous, proliferation, proliferation, precursors
_____ neoplasia arise from a _________most, single transformed cell
Neoplasms are made up of one type of cell. T or F?False
Benign vs malignant tumors refers to _____ behaviorsbiologic
Benign tumors are _____localized
Benign tumors do not ______, do not _____, and usually resemble _______invade, metastasize, precursor cells/tissues
Benign tumors: do not penetrate into ______ tissuesneighboring
Benign tumors do not ___metastasize
Malignant tumors are _____cancer
Malignant tumors spread to ____ sites (______)distant, metastasis
Metastatic cells can take up residence in new site within host, ____, and _____ again to another sitegrow, invade
Both malignant and benign tumors can be _____deadly

Section 12

Question Answer
Tumors carry suffix ____-oma
Benign tumors arising from glandular epitheliumadenoma
Malignant tumors with epithelial origincarcinoma
Malignant tumors with mesenchymal originsarcoma
Malignant cells of the squamous epithelium found in multiple tissuessquamous cell carcinoma
Tumor cells have more ____ growth than normalrapid
Growth rate is expressed as ______ ratedoubling
Tumor cells can continue to grow even though the _____ to stop growing are present and persistsignals
Tumor cells can _____ longer than normal and parent cellssurvive
Tumor cells can induce ____angiogenesis
New blood vessel formationangiogenesis
Tumor cells can evade _____repair mechanisms
Ex of a repair mechanism for tumor cellsDNA repair
Tumor cells have _____ replication potentiallimitless
Tumor cells can evade the _____ ____immune system

Section 13

Question Answer
The unregulated cell growth in tumors develops from ____ in genes and change in corresponding _____ for controlling cell growth, differentiation, apoptosis, genome repair and stabilitymutation, proteins
Altered versions of proto-oncogenesoncogenes
Normal genes responsible for normal cell growth, differentiation, and survivalProto-oncogenes
Gain of functiononcogenes
Normal genes responsible for growth inhibitiontumor suppressor genes
ex of tumor supressor genep53
loss of functiontumor suppressor genes
Maintain the genome stability and fidelity of DNA replicationGenome stability/DNA repair genes
ex. of change of gene controlepigenetics
Successive mutation in these genes enable the development of cells transformation and malignant cell types, ____ cell types generatedmultiple

Section 14

Question Answer
Tumor supressor gene dysregulation is responsible for what 3 things?growth arrest, senescence, inducing apoptosis
Loss of p53 function will result inuncontrolled cell growth
Mechanisms for loss p53 functiongene deletion on both alleles, mutation on one of 2 p53 genes
Mutation on one of the two p53 genes, but the mutated p53 protein can bind to the normal p53 protein and inactivate the normal p53 proteindominant negative
Genes for apoptosiscaspases
DNA repair genes and gene producs (protein) responsible forDNA repair
Impairment of DNA repair genes results in progressive _____ of mutations of all genesaccumulation
Example of genome stability genes and gene productsTelomerase
Extends the length of telomere on chromatid ends, which are normally shortened as cell agestelomerase
The process of neoplasia generationcarcinogenesis
Physiologic gene changes/gene control changes caused by what 4 thingsvirus, chemicals, physical agents, others
What promotes angiogenesis?Vascular endothelial growth factor (VEGF)

Section 15

Question Answer
15% of human cancers caused byViruses
Disrupt human genome or human genome controlviral oncogenes
Human papilloma virus causescervical cancer
Infectious hepatitis B and C virus causesliver cancer
Epstein-Barr virus causesBurkitt's lymphoma, lymphoproliferative disorder
Disorder in transplant patients receiving high doses of immunosuppressive drugslymphoproliferative disorder
Human Herpes virus 8 (HHV 8) causesKaposi Sarcoma
Kaposi Sarcoma inHIV/Aids patients
Human T-cell leukemia Virus-1 (HTLV-1) causesAdult human T cell leukemia

Section 16

Question Answer
Chemical that can permanently alter genomemutagen
Chemicals that can cause neoplasiacarcinogens
___% of carcinogens are mutagens90
Chemical carcinogenesis usually inovles _____ ____ ____metabolic biochemical processing
Metabolic biochemical processingmetabolic activation
Agents that cause neoplasia often involve ____ _____ speciesreactive Oxygen
3 examples of agents that cause neoplasiaPolycyclic aromatic hydrocarbons (PAH), heavy metals, drugs (chemotherapy)
2 examples of physical carcinogensradiation, asbestos
Agent that causes DNA changesRadiation
Agent that causes mesotheliomaasbestos
Agent that causes skin cancerradiation
Cancer secondary to radiation therapysecondary cancer