1: Genetic Disorders
Students identify common genetic disorders and describe basic inheritance patterns associated with single-gene conditions.
LibreTexts reference: Chapter 1: Foundations of Genetic Disorders 
Genetic Disorders and Descriptions
Click to show Genetic Disorders and Descriptions example problem
Match each of the following genetic disorders with their corresponding descriptions.
Note: Each choice will be used exactly once.
| Your Choice | Prompt | |
|---|---|---|
| 1. Prader-Willi syndrome | ||
| 2. Hemophilia | ||
| 3. DiGeorge syndrome | ||
| 4. Achondroplasia | ||
| 5. Maple syrup urine disease |
Drag one of the choices below:
- A. an inherited bleeding disorder in which the blood does NOT clot properly
- B. disorder that is due to a missing piece (deletion) of a specific part of chromosome 22
- C. gets its name from the distinctive sweet odor of affected infants' urine
- D. impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull
- E. a genetic disorder caused by a loss of function of specific genes on chromosome 15
Genetic Terminology and Definitions
Click to show Genetic Terminology and Definitions example problem
Match each of the following genetic terms with their corresponding definitions.
Note: Each choice will be used exactly once.
| Your Choice | Prompt | |
|---|---|---|
| 1. genetics | ||
| 2. haploid | ||
| 3. diploid | ||
| 4. homologous chromosomes | ||
| 5. genomics |
Drag one of the choices below:
- A. two similar but different copies of a chromosome
- B. the study of the effect of genetic differences on organisms
- C. a cell or organism that a single set of chromosomes
- D. the structure, function, evolution, and mapping of genomes
- E. a cell or organism that has paired chromosomes
Genetic Disorders from Descriptions
Click to show Genetic Disorders from Descriptions example problem
Which one of the following genetic disorders correspond to the description 'autosomal recessive genetic disorder affecting most critically the lungs'.
Genetic Terminology from Definitions
Click to show Genetic Terminology from Definitions example problem
Which one of the following genetic terms correspond to the definition 'the unit of inheritance passed from parents to offspring'.
Metabolic Pathway Order from Nutrient Supplementation (4 Metabolites)
Click to show Metabolic Pathway Order from Nutrient Supplementation (4 Metabolites) example problem
| enzyme 1 | enzyme 2 | enzyme 3 | ||||
| D | ⟶ | E | ⟶ | H | ⟶ | N |
Look at the metabolic pathway in the table above.
Metabolite N is needed for the bacteria to grow.
Consider a bacterial strain that is mutant for the gene coding for enzyme 2
Which nutrients, when added to minimal media, will help this bacteria grow?
Multiple answers may be correct.
Metabolic Pathway Order from Nutrient Supplementation (6 Metabolites)
Click to show Metabolic Pathway Order from Nutrient Supplementation (6 Metabolites) example problem
| enzyme 1 | enzyme 2 | enzyme 3 | enzyme 4 | enzyme 5 | ||||||
| C | ⟶ | D | ⟶ | E | ⟶ | K | ⟶ | P | ⟶ | X |
Look at the metabolic pathway in the table above.
Metabolite X is needed for the bacteria to grow.
Consider a bacterial strain that is mutant for the gene coding for enzyme 3
Which nutrients, when added to minimal media, will help this bacteria grow?
Multiple answers may be correct.