D115 Notetaking Study Guide Answers
Unit 2: Foundations of Pathophysiology: Genes, Lifestyle, and
Immunity
Pages 13-15: Genetic Influence on Patient Outcomes
Vocabulary Definitions:
RNA: Single-stranded molecule; transcribes DNA for protein
synthesis.
DNA: Double-stranded molecule; stores genetic information.
Chromosomes: DNA/protein structures in nucleus; carry genes.
Mitosis: Cell division forming identical daughter cells.
Transcription: DNA to mRNA synthesis.
Translation: mRNA to protein synthesis.
Phenotype: Observable traits from genotype/environment.
Genotype: Genetic makeup.
Dominant/recessive: Dominant allele expresses trait; recessive
needs two copies.
Autosomal dominance: Trait expressed with one dominant allele on
autosomes.
Autosomal recessive: Trait expressed with two recessive alleles.
, X-linked: Genes on X chromosome; affects males more.
Evaluation of pedigrees: Analyzing family trees for inheritance
patterns.
Incidence rate: New disease cases over time.
Prevalence rate: Total disease cases at a time.
Relative risk: Disease incidence ratio, exposed vs. unexposed.
Key Questions:
1. What are genes composed of and where are they located?
Composed of DNA, located on chromosomes in nucleus.
2. What are the four types of nitrogenous bases that constitute DNA?
Adenine, Guanine, Cytosine, Thymine.
3. How are new strands of DNA formed?
DNA unwinds, unzips; DNA polymerase pairs complementary bases.
4. How is the process of transcription regulated?
Transcription factors (enhancers/repressors) control gene expression.
5. How many pairs of chromosomes do humans have?
23 pairs (46 total).
6. What are some of the most common types of chromosome
abnormalities?
, Down syndrome (trisomy 21), Turner syndrome (monosomy X),
Klinefelter syndrome (XXY).
7. How are pedigree charts utilized in genetics?
Identify inheritance patterns; assess genetic condition risk.
8. How is gender determined from a genetic perspective?
Y chromosome = male; XX = female.
9. What are some common multifactorial diseases?
Obesity, alcoholism, diabetes, autism, schizophrenia.
10. Detail the criteria used to define multifactorial inheritance:
Genetic and Environmental Factors.
11. How do monozygotic and dizygotic twins differ genetically?
Monozygotic: Identical, one egg/sperm, near-identical genes.
Dizygotic: Fraternal, two eggs/sperms, ~50% genes.
12. What are some well-known examples of imprinting?
Prader-Willi, Angelman syndromes; parent-specific gene expression
via methylation.
13. How is the concept of probability applied to and used in
genetics?
Predicts trait/disease inheritance likelihood.
14. Which chromosome is affected in individuals with Down’s
syndrome? What are the clinical characteristics? Identify the health
, challenges and risk factors associated with Down's Syndrome.
Chromosome 21. Characteristics: IQ 20-70, low nasal bridge,
epicanthal folds, hypotonia, short stature. Risks: Heart disease,
infections, leukemia, Alzheimer-like symptoms by 40, ~60-year life
expectancy.
15. Identify the chromosomes affected in individuals with Turner
syndrome. What are the clinical characteristics? How are these
individuals treated?
Single X (45 total). Characteristics: Female, short stature, webbed
neck, wide nipples. Treatment: Hormone therapy, fertility support.
16. Which chromosomes are involved in individuals with Klinefelter
syndrome? What are the clinical characteristics?
XXY. Characteristics: Male, sterile, female-like breasts, small testicles.
17. Identify the types of genetic testing (carrier screening) available
and their uses for disease screening, diagnosis, and treatment.
Types: Carrier screening, diagnostic, predictive, pharmacogenomic.
Uses: Identify carriers, confirm diagnoses, predict risk, guide
treatment.
Pages 16-19: Pathological Defense Mechanisms and Immunity
Vocabulary Definitions:
Unit 2: Foundations of Pathophysiology: Genes, Lifestyle, and
Immunity
Pages 13-15: Genetic Influence on Patient Outcomes
Vocabulary Definitions:
RNA: Single-stranded molecule; transcribes DNA for protein
synthesis.
DNA: Double-stranded molecule; stores genetic information.
Chromosomes: DNA/protein structures in nucleus; carry genes.
Mitosis: Cell division forming identical daughter cells.
Transcription: DNA to mRNA synthesis.
Translation: mRNA to protein synthesis.
Phenotype: Observable traits from genotype/environment.
Genotype: Genetic makeup.
Dominant/recessive: Dominant allele expresses trait; recessive
needs two copies.
Autosomal dominance: Trait expressed with one dominant allele on
autosomes.
Autosomal recessive: Trait expressed with two recessive alleles.
, X-linked: Genes on X chromosome; affects males more.
Evaluation of pedigrees: Analyzing family trees for inheritance
patterns.
Incidence rate: New disease cases over time.
Prevalence rate: Total disease cases at a time.
Relative risk: Disease incidence ratio, exposed vs. unexposed.
Key Questions:
1. What are genes composed of and where are they located?
Composed of DNA, located on chromosomes in nucleus.
2. What are the four types of nitrogenous bases that constitute DNA?
Adenine, Guanine, Cytosine, Thymine.
3. How are new strands of DNA formed?
DNA unwinds, unzips; DNA polymerase pairs complementary bases.
4. How is the process of transcription regulated?
Transcription factors (enhancers/repressors) control gene expression.
5. How many pairs of chromosomes do humans have?
23 pairs (46 total).
6. What are some of the most common types of chromosome
abnormalities?
, Down syndrome (trisomy 21), Turner syndrome (monosomy X),
Klinefelter syndrome (XXY).
7. How are pedigree charts utilized in genetics?
Identify inheritance patterns; assess genetic condition risk.
8. How is gender determined from a genetic perspective?
Y chromosome = male; XX = female.
9. What are some common multifactorial diseases?
Obesity, alcoholism, diabetes, autism, schizophrenia.
10. Detail the criteria used to define multifactorial inheritance:
Genetic and Environmental Factors.
11. How do monozygotic and dizygotic twins differ genetically?
Monozygotic: Identical, one egg/sperm, near-identical genes.
Dizygotic: Fraternal, two eggs/sperms, ~50% genes.
12. What are some well-known examples of imprinting?
Prader-Willi, Angelman syndromes; parent-specific gene expression
via methylation.
13. How is the concept of probability applied to and used in
genetics?
Predicts trait/disease inheritance likelihood.
14. Which chromosome is affected in individuals with Down’s
syndrome? What are the clinical characteristics? Identify the health
, challenges and risk factors associated with Down's Syndrome.
Chromosome 21. Characteristics: IQ 20-70, low nasal bridge,
epicanthal folds, hypotonia, short stature. Risks: Heart disease,
infections, leukemia, Alzheimer-like symptoms by 40, ~60-year life
expectancy.
15. Identify the chromosomes affected in individuals with Turner
syndrome. What are the clinical characteristics? How are these
individuals treated?
Single X (45 total). Characteristics: Female, short stature, webbed
neck, wide nipples. Treatment: Hormone therapy, fertility support.
16. Which chromosomes are involved in individuals with Klinefelter
syndrome? What are the clinical characteristics?
XXY. Characteristics: Male, sterile, female-like breasts, small testicles.
17. Identify the types of genetic testing (carrier screening) available
and their uses for disease screening, diagnosis, and treatment.
Types: Carrier screening, diagnostic, predictive, pharmacogenomic.
Uses: Identify carriers, confirm diagnoses, predict risk, guide
treatment.
Pages 16-19: Pathological Defense Mechanisms and Immunity
Vocabulary Definitions:
