D115 Advanced Pathophysiology - Unit 2
1. What are genes composed of and where are they located?: DNA
Chromosomes & Proteins (Histones)
2. What are the four types of Nitrogenous bases that constitute DNA?:
Adenine Cytosine
Guanine
Thymine
3. How are New strands of DNA formed?: Replication
4. How is the Process of Transcription regulated?: Through proteins called
transcription factors which can either activate or repress the expression of
genes
5. How many pairs if chromosomes do humans have?: 23 pairs
6. What are some of the most common types of chromosome
abnormalities?:
Trisomy - extra copy of a chromosome
Monosomy - Missing a Chromosome
Deletion - Piece of a chromosome is missing
Translocation - Piece of a chromosome breaks off & attaches to another
chromosome.
Inversion - Piece of a chromosome breaks off & reattaches in the opposite direction.
7. How are pedigree charts utilized in genetics?: Visually represent the
inheritance patterns of a specific trait or disease within a family across generations.
8. How is gender determined from a genetic perspective?:
The combination of sex chromosomes
XX female
XY Male
9. What common diseases are considered multifactorial?:
Cancer DMII
Heart disease
HTN
Obesity
Alzheimer's
Multiple Sclerosis
Allergies
10. Detail the criteria used to define multifactorial inheritance:
, D115 Advanced Pathophysiology - Unit 2
Study online at https://quizlet.com/_fxs554
- Lack of clear-cut inheritance pattern
- significant role of environmental factors
- higher recurrence risk among close relatives
- continuous distribution of the trait within the population
11. How do monozygotic and dizygotic twins differ genetically?: Monozygotic
Share Nearly 100% of their genes.
Dizygotic share 50% of their genes
12. What are some well known examples of imprinting?: Genetic disorders
Prader-Willi Syndrome Angelman Syndrome
both caused by errors in imprinted genes on Chromosome 15
13. How is the concept of probability applied to and used in genetics?: To
predict the likelihood of inheriting specific traits from parents by calculating the
chances of different allele combinations coming together during fertilization.
14. Which chromosome is affected in individuals with Down Syndrome?:
Chromosome 21 (Trisomy 21)
15. Clinical Characteristics of Trisomy 21 (Down Syndrome):
Distinct facial features (small head, ears and mouth)
Upward slanted eyes
Developmentally delayed
Intellectual disability
Simians crease
Weak muscle tone
16. Health Challenges and risk factors associated with Down Syndrome:
Heart defects Hearing loss ear infections eye disease Leukemia Hypotonia
thyroid dysfunction
17. What Chromosome affect individuals with Turners Syndrome?:
Chromosome 45X
18. Turners Syndrome Clinical Characteristics:
Abnormal development of reproductive organs Delayed puberty
Short stature
Webbed neck
Absence of menstruation
Infertility
HTN
1. What are genes composed of and where are they located?: DNA
Chromosomes & Proteins (Histones)
2. What are the four types of Nitrogenous bases that constitute DNA?:
Adenine Cytosine
Guanine
Thymine
3. How are New strands of DNA formed?: Replication
4. How is the Process of Transcription regulated?: Through proteins called
transcription factors which can either activate or repress the expression of
genes
5. How many pairs if chromosomes do humans have?: 23 pairs
6. What are some of the most common types of chromosome
abnormalities?:
Trisomy - extra copy of a chromosome
Monosomy - Missing a Chromosome
Deletion - Piece of a chromosome is missing
Translocation - Piece of a chromosome breaks off & attaches to another
chromosome.
Inversion - Piece of a chromosome breaks off & reattaches in the opposite direction.
7. How are pedigree charts utilized in genetics?: Visually represent the
inheritance patterns of a specific trait or disease within a family across generations.
8. How is gender determined from a genetic perspective?:
The combination of sex chromosomes
XX female
XY Male
9. What common diseases are considered multifactorial?:
Cancer DMII
Heart disease
HTN
Obesity
Alzheimer's
Multiple Sclerosis
Allergies
10. Detail the criteria used to define multifactorial inheritance:
, D115 Advanced Pathophysiology - Unit 2
Study online at https://quizlet.com/_fxs554
- Lack of clear-cut inheritance pattern
- significant role of environmental factors
- higher recurrence risk among close relatives
- continuous distribution of the trait within the population
11. How do monozygotic and dizygotic twins differ genetically?: Monozygotic
Share Nearly 100% of their genes.
Dizygotic share 50% of their genes
12. What are some well known examples of imprinting?: Genetic disorders
Prader-Willi Syndrome Angelman Syndrome
both caused by errors in imprinted genes on Chromosome 15
13. How is the concept of probability applied to and used in genetics?: To
predict the likelihood of inheriting specific traits from parents by calculating the
chances of different allele combinations coming together during fertilization.
14. Which chromosome is affected in individuals with Down Syndrome?:
Chromosome 21 (Trisomy 21)
15. Clinical Characteristics of Trisomy 21 (Down Syndrome):
Distinct facial features (small head, ears and mouth)
Upward slanted eyes
Developmentally delayed
Intellectual disability
Simians crease
Weak muscle tone
16. Health Challenges and risk factors associated with Down Syndrome:
Heart defects Hearing loss ear infections eye disease Leukemia Hypotonia
thyroid dysfunction
17. What Chromosome affect individuals with Turners Syndrome?:
Chromosome 45X
18. Turners Syndrome Clinical Characteristics:
Abnormal development of reproductive organs Delayed puberty
Short stature
Webbed neck
Absence of menstruation
Infertility
HTN
