assignments3.docx
ASSIGNMENT 1
Case Study
From your course textbook Case Workbook to Accompany Human Genetics: Concepts and Applications, read the assigned case study in the following chapters:
· Chapters 9–12, Questions #21–24
In a 4- to 5-page Microsoft Word document, create a work sheet by answering the Questions for Research and Discussion provided for each case study. (Do not answer the multiple-choice questions).
Cite any sources in APA format.
Submission Details
|
Assignment 2 Grading Criteria
|
Maximum Points
|
|
Identified a gene, other than BRCA1 (breast cancer 1, early onset), that increases the risk of developing breast cancer when mutant. In addition, described the process or mechanism that the mutation of your chosen gene disrupts.
|
12
|
|
Explained how alternate splicing can complicate the study of mutations in the BRCA1. Also, compared and described hereditary germline cancers such as those caused by BRCA1 mutations and cancers that result from two somatic mutations in the same gene in the same cell.
|
14
|
|
Explained how mutations in the same gene can cause different types of cancers.
|
14
|
|
Used correct spelling, grammar, and professional vocabulary. Cited all sources using APA format.
|
10
|
|
Total:
|
50
|
ASSIGNMENT 2
|
|
|
|
|
|
|
|
Chromosomal Mutations
Gene mutations can occur spontaneously or could be induced by exposure to chemicals or radiations. Mutations are of various types, ranging from point mutations to expanding repeats. Each mutation is classified by the way it alters the DNA.
|
Types of Mutation
|
|
A sentence made of three-letter words can provide an analogy to the effect of mutations on a gene's DNA sequence.
|
|
Normal
|
THE ONE BIG FLY HAD ONE RED EYE
|
|
Missense
|
THQ ONE BIG FLY HAD ONE RED EYE
|
|
Nonsense
|
THE ONE BIG
|
|
Frameshift
|
THE ONE QBI GFL YHA DON ERE DEY
|
|
Deletion
|
THE ONE BIG HAD ONE RED EYE
|
|
Insertion
|
THE ONE BIG WET FLY HAD ONE RED EYE
|
|
Duplication
|
THE ONE BIG FLY FLY HAD ONE RED EYE
|
|
Expanding mutation
|
|
|
Generation 1
|
THE ONE BIG FLY HAD ONE RED EYE
|
|
Generation 2
|
THE ONE BIG FLY FLYFLY HAD ONE RED EYE
|
|
Generation 3
|
THE ONE BIG FLY FLYFLYFLYFLY HAD ONE RED EYE
|
Complete the following discussions:
· Describe a genetic disorder resulting from one of the mutations listed in the table. What is the mode of inheritance of your chosen disorder? What does the affected gene sequence look like in comparison to the normal sequence? What is the change in the amino acid sequence as a result of the disorder?
· Describe the DNA repair process in eukaryotes. Why do you think this process is absent in mitochondrial DNA? What properties of mitochondrial DNA prevent it from repairing itself?
· Describe two purposes of performing a karyotype (other than detecting abnormal chromosome numbers). In your opinion, should karyotyping be performed in the early stages of pregnancy to look for genetic disorders? Why or why not?
· Identify two types of chromosomal abnormalities that can result from addition, deletion, or duplication of genetic material and describe how it happens. Describe a genetic disorder that can result from one of the aberrations identified by you.
|
Tabitha25
