Note-Taking Guide for D115
***Unit 2: Foundations of Pathophysiology: Genes, Lifestyle, and Immunity***
Key Questions - You should be able to answer these upon completion of the
Page Module Vocabulary
Unit/Section. Please add your own notes as necessary.
13- 15 Genetic Influence on Patient RNA: type of nucleic acid 1. What are genes composed of and where are they located?
Outcomes that is chemically very similar *composed of DNA, located on chromosomes
to DNA 2. What are the four types of nitrogenous bases that constitute DNA?
*adenine, cytosine, guanine, thymine (A to T) (G to C)
DNA: deoxyribonucleic acid;
3. How are new strands of DNA formed?
molecule that carries genetic
*weak hydrogen bonds break between the bases leaving a single
information for organism
strand with each base unpaired, appropriate nitrogen bases paired,
development and function
repeated until all bases paired appropriately to create new double-
stranded molecule identical to original
Chromosomes: threadlike
structure of nucleic acids and 4. How is the process of transcription regulated?
protein found in the nucleus * DNA polymerase travels along the single strand adding the correct
of most living cells, carrying nucleotides, as well as proofreading to make sure it is a
genetic information in the complimentary base pair; will remove incorrect base pairs and
form of genes replace with correct ones
5. How many pairs of chromosomes do humans have?
Mitosis: type of cell division * 23 pairs
that results in two “daughter” 6. What are some of the most common types of chromosome
cells each having the same abnormalities?
number and kind of * Down syndrome: trisomy of chromosome 21
chromosomes as the “parent” *Turner syndrome: only has 1 sex chromosome instead of 2
nucleus *Trisomy X: have 3 X chromosomes instead of 2
*Klinefelter: has at least 2 X chromosomes and a Y chromosome in
Transcription: process by each cell, can have more than 2 X chromosomes and will have
which RNA is synthesized increased impairment with every extra X chromosome
from DNA template *Cri du chat: chromosomal deletion on part of the short arm of
chromosome 5
Translation: process by which *fragile X: fragile site (develops microscopically observable
RNA directs the synthesis of a break/gap when cells are cultured in folate-deficient medium)
polypeptide located on long arm of X chromosome
7. How are pedigree charts utilized in genetics?
Phenotype: outward *summarizes family relationships and shows which members of
appearance of an individual, family are affected by genetic disease
which is the result of both 8. How is gender determined from a genetic perspective?
genotype and environment *passed on from the father. SRY gene on Y chromosome indicates
, male, lacking this becomes female. Can lack SRY gene and be XY
Genotype: composition of female; X chromosome can have SRY attached and produce XX
genes at give locus male
9. What are some common diseases are considered multifactorial
Dominant: allele whose diseases?
effects are observable * Hypertension, CAD, stroke, DM (1 & 2), breast cancer, colon
cancer, obesity, Alzheimer, alcoholism, schizophrenia, bipolar,
Recessive: allele whose pyloric stenosis, neural tube defects, cleft lip/palate
effects are hidden 10. Detail the criteria used to define multifactorial inheritance:
*the recurrence risk becomes higher if more than one family
Autosomal dominance: member is affected; if the expression of the disease in the proband is
genetic trait passed from more severe the recurrence risk is higher; the recurrence risk is
parent that only needs to be higher if the proband is of the less commonly affected sex; the
passed from one parent and is recurrence risk for the disease usually decreases rapidly in more
dominant over other trait remotely related relatives; If the prevalence of the disease in a
passed from second parent population is F the risk for offspring and siblings of proband is
approximately √ 𝑭
Autosomal recessive: genetic
trait that must be passed from 11. How do monozygotic and dizygotic twins differ genetically?
both parents to have *monozygotic twins have the same genetic makeup and any
characteristic present differentiation is environmental; dizygotic twins are no more similar
in makeup than other siblings
X linked: disease is linked 12. What are some well-known examples of imprinting?
directly to the X chromosome, *Prader-Willi Syndrome, Angelman Syndrome, Beckwith-
can’t come from father Wiedemann Syndrome, Russell-Silver Syndrome,
13. How is the concept of probability applied to and used in genetics?
Evaluation of pedigrees: by *can assist in determining potentially affected individuals or
doing so we can determine populations
genotypes, identify 14. Which chromosome is affected in individuals with Down’s
phenotypes, and predict how a syndrome? What are the clinical characteristics?
trait will be passed on in the *chromosome 21; low IQ, distinct facial appearance with low nasal
future bridge, epicanthal folds, protruding tongue, and flat, low set ears;
poor muscle tone and short stature
Incident rate: number of
15. Identify the health challenges and risk factors associated with
people in a specified group
Down's Syndrome.
who develop a variant or
* congenital heart defects for about 1/3-1/2 of live-born children,
disorder during a particular
reduced ability to fight respiratory infection, increased susceptibility
time period
to leukemia, by age 40 presents like Alzheimer’s d/t it being on
chromosome 21
Prevalence rate: total number
, 16. Identify the chromosomes affected in individuals with Turner
syndrome. What are the clinical characteristics? How are these
individuals treated?
*45, X; always female, sterile, gonadal streaks instead of ovaries
(are susceptible to cancer in mosaic fetuses who have some Y
chromosomes), short stature, webbing of neck, wide spaced nipples,
coarctation of aorta, foot edema in newborns, sparse body hair]’
17. Which chromosomes are involved in individuals with Klinefelter
syndrome? What are the clinical characteristics?
*sex chromosome/47; d/t presence of Y chromosome will have male
of cases of a disease existing appearance, sterile, gynecomastia, testes are small, sparse body hair,
in a population divided by the high pitched voice, tall stature, moderate degree of mental
total population impairment
18. Identify the types of genetic testing (carrier screening) available and
Relative risk: compares the their uses for disease screening, diagnosis, and treatment
likelihood that an individual *Carrier screening: can ID heterozygous carriers for recessive
or group with a risk factor diseases (CF, sickle cell, Tay-Sachs)
will develop a health *Amniocentesis: carried out about 16 weeks, withdrawal of amniotic
condition compared with an fluid to culture and karyotype to detect chromosome
individual or group with a *A-fetoprotein: detects neural tube defects with elevation
similar background without *Chorionic villus sampling: carried out about 10-12 weeks,
that risk factor extracting a small amount of villous tissue directly from chorion
*Preimplantation genetic diagnosis (PGD): carried out on early
embryos (8-12 cells) by IVF, 1 or 2 cells removed and tested for
chromosome abnormalities or single-gene disorders
*Cell-free fetal DNA: carried out about 6-8+ weeks gestation, fetal
cells pulled from mother’s DNA and tested for disease-causing
mutations (trisomy 21, 13, 18, neural tube defects)
*Newborn screening: after delivery, screening for PKU and
galactosemia
*Presymptomatic diagnosis: BRCA testing for genetically associated
breast, ovarian, and colon cancer
*Drug efficacy and sensitivity: testing for variants in genes that can
help guide drug treatment
16- 19 Pathological Defense Innate immunity 19. What are the 3 layers of human defense? What happens during
Mechanisms and Immunity Human defense mechanisms each?
mechanical/biomechanical *Physical: barriers that protect against damage and infection
barriers composed of tightly associated epithelial cells including those of
Human Leukocyte Antigen skin and membrane linings of GI, GU, and respiratory tracts
, Normal microbiome *Mechanical: vomiting and urination, respiratory tract mucus to trap
Inflammatory response microorganisms that are removed with sneezing and coughing, low
Wound healing stages temperature of skin and low pH of skin and stomach inhibit
Adaptive immunity microorganisms
Antigens *Biochemicla barriers: mucus and earwax secretions that trap and
Immunogens kill potential disease-causing microorganisms; sebaceous glands in
Clonal diversity skin secrete antibacterial and antifungal fatty acids and lactic acid;
Clonal selection perspirations, tears, and saliva contain enzyme (lysozyme) that
Antibody function attacks cell walls of gram positive bacteria
Major histocompatibility 20. What is the second line of defense and the process?
complex *Inflammation: responds to cellular or tissue damage whether sterile
Active immunization or contaminated; rapid initiation and interactive system of humoral
Passive immunotherapy and cellular systems designed to limit extent of tissue damage,
Infection diseases destroy contaminating infectious microorganisms, initiate adaptive
HIV immune response, and begin healing process
Antimicrobials 1. Vasodilation causes slower blood velocity and increases blood
Measures of risk: frequency flow to injured site
Ratio 2. Increased vascular permeability and leakage of fluid from vessel
Proportion cause edema at site; as plasma moves outward blood becomes more
Proportionate mortality viscous and flows slower and causes erythema and warmth at site
Rate 3. WBC adhere to inner walls of vessels and migrate to surrounding
tissue
21. How do acute and chronic inflammation differ?
*Difference is chronic lasts 2 weeks or longer
*Acute: fever, leukocytosis, plasma protein synthesis
*Chronic: preceded by unsuccessful acute inflammatory response;
can be characterized by pus formation, purulent discharge
(suppuration), and incomplete wound healing
22. What are the phases of wound healing and the process that takes
place during each?
*requires processes that fill in, seal (epithelization), and shrink
(contraction)
*primary intention: wounds that heal under conditions of minimal
tissue loss (paper cut, sutured surgical wounds)
*secondary intention: wound that requires great deal of tissue
replacement so that epithelization, scar formation, and contraction
(pressure ulcer)
*Inflammation: coagulation and infiltration of cells that participate
in wound healing (platelets, neutrophils, macrophages); platelets
***Unit 2: Foundations of Pathophysiology: Genes, Lifestyle, and Immunity***
Key Questions - You should be able to answer these upon completion of the
Page Module Vocabulary
Unit/Section. Please add your own notes as necessary.
13- 15 Genetic Influence on Patient RNA: type of nucleic acid 1. What are genes composed of and where are they located?
Outcomes that is chemically very similar *composed of DNA, located on chromosomes
to DNA 2. What are the four types of nitrogenous bases that constitute DNA?
*adenine, cytosine, guanine, thymine (A to T) (G to C)
DNA: deoxyribonucleic acid;
3. How are new strands of DNA formed?
molecule that carries genetic
*weak hydrogen bonds break between the bases leaving a single
information for organism
strand with each base unpaired, appropriate nitrogen bases paired,
development and function
repeated until all bases paired appropriately to create new double-
stranded molecule identical to original
Chromosomes: threadlike
structure of nucleic acids and 4. How is the process of transcription regulated?
protein found in the nucleus * DNA polymerase travels along the single strand adding the correct
of most living cells, carrying nucleotides, as well as proofreading to make sure it is a
genetic information in the complimentary base pair; will remove incorrect base pairs and
form of genes replace with correct ones
5. How many pairs of chromosomes do humans have?
Mitosis: type of cell division * 23 pairs
that results in two “daughter” 6. What are some of the most common types of chromosome
cells each having the same abnormalities?
number and kind of * Down syndrome: trisomy of chromosome 21
chromosomes as the “parent” *Turner syndrome: only has 1 sex chromosome instead of 2
nucleus *Trisomy X: have 3 X chromosomes instead of 2
*Klinefelter: has at least 2 X chromosomes and a Y chromosome in
Transcription: process by each cell, can have more than 2 X chromosomes and will have
which RNA is synthesized increased impairment with every extra X chromosome
from DNA template *Cri du chat: chromosomal deletion on part of the short arm of
chromosome 5
Translation: process by which *fragile X: fragile site (develops microscopically observable
RNA directs the synthesis of a break/gap when cells are cultured in folate-deficient medium)
polypeptide located on long arm of X chromosome
7. How are pedigree charts utilized in genetics?
Phenotype: outward *summarizes family relationships and shows which members of
appearance of an individual, family are affected by genetic disease
which is the result of both 8. How is gender determined from a genetic perspective?
genotype and environment *passed on from the father. SRY gene on Y chromosome indicates
, male, lacking this becomes female. Can lack SRY gene and be XY
Genotype: composition of female; X chromosome can have SRY attached and produce XX
genes at give locus male
9. What are some common diseases are considered multifactorial
Dominant: allele whose diseases?
effects are observable * Hypertension, CAD, stroke, DM (1 & 2), breast cancer, colon
cancer, obesity, Alzheimer, alcoholism, schizophrenia, bipolar,
Recessive: allele whose pyloric stenosis, neural tube defects, cleft lip/palate
effects are hidden 10. Detail the criteria used to define multifactorial inheritance:
*the recurrence risk becomes higher if more than one family
Autosomal dominance: member is affected; if the expression of the disease in the proband is
genetic trait passed from more severe the recurrence risk is higher; the recurrence risk is
parent that only needs to be higher if the proband is of the less commonly affected sex; the
passed from one parent and is recurrence risk for the disease usually decreases rapidly in more
dominant over other trait remotely related relatives; If the prevalence of the disease in a
passed from second parent population is F the risk for offspring and siblings of proband is
approximately √ 𝑭
Autosomal recessive: genetic
trait that must be passed from 11. How do monozygotic and dizygotic twins differ genetically?
both parents to have *monozygotic twins have the same genetic makeup and any
characteristic present differentiation is environmental; dizygotic twins are no more similar
in makeup than other siblings
X linked: disease is linked 12. What are some well-known examples of imprinting?
directly to the X chromosome, *Prader-Willi Syndrome, Angelman Syndrome, Beckwith-
can’t come from father Wiedemann Syndrome, Russell-Silver Syndrome,
13. How is the concept of probability applied to and used in genetics?
Evaluation of pedigrees: by *can assist in determining potentially affected individuals or
doing so we can determine populations
genotypes, identify 14. Which chromosome is affected in individuals with Down’s
phenotypes, and predict how a syndrome? What are the clinical characteristics?
trait will be passed on in the *chromosome 21; low IQ, distinct facial appearance with low nasal
future bridge, epicanthal folds, protruding tongue, and flat, low set ears;
poor muscle tone and short stature
Incident rate: number of
15. Identify the health challenges and risk factors associated with
people in a specified group
Down's Syndrome.
who develop a variant or
* congenital heart defects for about 1/3-1/2 of live-born children,
disorder during a particular
reduced ability to fight respiratory infection, increased susceptibility
time period
to leukemia, by age 40 presents like Alzheimer’s d/t it being on
chromosome 21
Prevalence rate: total number
, 16. Identify the chromosomes affected in individuals with Turner
syndrome. What are the clinical characteristics? How are these
individuals treated?
*45, X; always female, sterile, gonadal streaks instead of ovaries
(are susceptible to cancer in mosaic fetuses who have some Y
chromosomes), short stature, webbing of neck, wide spaced nipples,
coarctation of aorta, foot edema in newborns, sparse body hair]’
17. Which chromosomes are involved in individuals with Klinefelter
syndrome? What are the clinical characteristics?
*sex chromosome/47; d/t presence of Y chromosome will have male
of cases of a disease existing appearance, sterile, gynecomastia, testes are small, sparse body hair,
in a population divided by the high pitched voice, tall stature, moderate degree of mental
total population impairment
18. Identify the types of genetic testing (carrier screening) available and
Relative risk: compares the their uses for disease screening, diagnosis, and treatment
likelihood that an individual *Carrier screening: can ID heterozygous carriers for recessive
or group with a risk factor diseases (CF, sickle cell, Tay-Sachs)
will develop a health *Amniocentesis: carried out about 16 weeks, withdrawal of amniotic
condition compared with an fluid to culture and karyotype to detect chromosome
individual or group with a *A-fetoprotein: detects neural tube defects with elevation
similar background without *Chorionic villus sampling: carried out about 10-12 weeks,
that risk factor extracting a small amount of villous tissue directly from chorion
*Preimplantation genetic diagnosis (PGD): carried out on early
embryos (8-12 cells) by IVF, 1 or 2 cells removed and tested for
chromosome abnormalities or single-gene disorders
*Cell-free fetal DNA: carried out about 6-8+ weeks gestation, fetal
cells pulled from mother’s DNA and tested for disease-causing
mutations (trisomy 21, 13, 18, neural tube defects)
*Newborn screening: after delivery, screening for PKU and
galactosemia
*Presymptomatic diagnosis: BRCA testing for genetically associated
breast, ovarian, and colon cancer
*Drug efficacy and sensitivity: testing for variants in genes that can
help guide drug treatment
16- 19 Pathological Defense Innate immunity 19. What are the 3 layers of human defense? What happens during
Mechanisms and Immunity Human defense mechanisms each?
mechanical/biomechanical *Physical: barriers that protect against damage and infection
barriers composed of tightly associated epithelial cells including those of
Human Leukocyte Antigen skin and membrane linings of GI, GU, and respiratory tracts
, Normal microbiome *Mechanical: vomiting and urination, respiratory tract mucus to trap
Inflammatory response microorganisms that are removed with sneezing and coughing, low
Wound healing stages temperature of skin and low pH of skin and stomach inhibit
Adaptive immunity microorganisms
Antigens *Biochemicla barriers: mucus and earwax secretions that trap and
Immunogens kill potential disease-causing microorganisms; sebaceous glands in
Clonal diversity skin secrete antibacterial and antifungal fatty acids and lactic acid;
Clonal selection perspirations, tears, and saliva contain enzyme (lysozyme) that
Antibody function attacks cell walls of gram positive bacteria
Major histocompatibility 20. What is the second line of defense and the process?
complex *Inflammation: responds to cellular or tissue damage whether sterile
Active immunization or contaminated; rapid initiation and interactive system of humoral
Passive immunotherapy and cellular systems designed to limit extent of tissue damage,
Infection diseases destroy contaminating infectious microorganisms, initiate adaptive
HIV immune response, and begin healing process
Antimicrobials 1. Vasodilation causes slower blood velocity and increases blood
Measures of risk: frequency flow to injured site
Ratio 2. Increased vascular permeability and leakage of fluid from vessel
Proportion cause edema at site; as plasma moves outward blood becomes more
Proportionate mortality viscous and flows slower and causes erythema and warmth at site
Rate 3. WBC adhere to inner walls of vessels and migrate to surrounding
tissue
21. How do acute and chronic inflammation differ?
*Difference is chronic lasts 2 weeks or longer
*Acute: fever, leukocytosis, plasma protein synthesis
*Chronic: preceded by unsuccessful acute inflammatory response;
can be characterized by pus formation, purulent discharge
(suppuration), and incomplete wound healing
22. What are the phases of wound healing and the process that takes
place during each?
*requires processes that fill in, seal (epithelization), and shrink
(contraction)
*primary intention: wounds that heal under conditions of minimal
tissue loss (paper cut, sutured surgical wounds)
*secondary intention: wound that requires great deal of tissue
replacement so that epithelization, scar formation, and contraction
(pressure ulcer)
*Inflammation: coagulation and infiltration of cells that participate
in wound healing (platelets, neutrophils, macrophages); platelets
