Review

Altered Phys.

Chapter 2 Review

After reviewing this chapter, the learner will be able to do the following:

Describe the structure and function of DNA.

Describe how DNA and RNA differ in structure.

Define the processes of transcription and translation.

Describe the differences among somatic cells, gametes, autosomes, and sex chromosomes.

Describe the normal karyotype.

Discuss the differences between euploid and aneuploid cells.

Identify the different mechanisms of mutation and discuss the effect of these mutations on survival.

Discuss the significance of a chromosomal translocation.

Identify the major chromosomal abnormalities. Differentiate between genotype and phenotype, and give examples of each.

Differentiate among autosomal dominant, autosomal recessive, and X-linked recessive inheritance modes.

Define the terms penetrance and expressivity and give examples of each.

Discuss the significance of DNA methylation using identical twins as an example.

Describe sex-limited and sex-linked traits and give an example of each.

Discuss the process and significance of gene mapping.

Discuss the concept of multifactorial inheritance.

Chapter 2 Questions

1. What is the major composition of DNA?

2. Define the term mutation, autosomes, and sex Chromosomes.

3. What is the significance of mRNA?

4. What is the significance of chromosomal translocation?

5. Why is the influence of environment significant to phenotype?

6. Discuss the difference between a dominant and a recessive allel.

7. Why are the concepts of variable expressivity, incomplete penetrance, and delayed age of onset so important in relation to genetic diseases?

8. What is the recurrence risk for autosomal dominant inheritance and recessive inheritance?

9. Define linkage analysis; cite an example

10. Why is “threshold of liability” an important consideration inmultifactorial inheritance?

11. Discuss the concept of...