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BIOL 1040 Unit 7 Week 14 Medical Genetics

 

Directions: Download and Save this document as ?BIOL 1040 Unit 7 Week 14 Medical

 

Genetics Lab_Lastname?. SAVE YOUR WORK AS A WORD (.doc) DOCUMENT.

 

When you have completed this assessment, submit it to the appropriate Assignments

 

area in Blackboard.

 

Using the LABSTER Lab website (including the Theory and Image tabs), your notes,

 

and in some cases outside research, answer the following questions. Your answers

 

must be in the form of complete and grammatically correct sentences. Highlight your

 

responses or use a different font color (to distinguish them from the questions

 

themselves). These questions are ordered as you proceed through the LABSTER lab

 

exercise sections. 10 points

 

Medical Genetics Lab

 

1) Name the course of treatment suggested by the initial diagnosis of breast cancer.

 


 

2) Discuss what is meant by the phrase, ?Knudson?s second hit?.

 


 

3) Regarding the linkage analysis:

 

a. Name the cell source for the DNA.

 


 

b. Name the individuals who will provide the cells.

 


 

c. Name the type of marker being used for the linkage analysis.

 


 

4)

 


 

a. Fill in the table below for the markers being used in the linkage analysis

 


 

GENE

 


 

BRCA1

 

BRCA2

 


 

CHROMOSOMAL LOCATION

 


 

MARKER

 

DESIGNATION

 


 

LOCATION AND

 

FURTHER

 

INFORMATION

 


 

BIOL 1040 Unit 7 Week 14 Medical Genetics

 


 

b. What is the typical length for these types of markers?

 


 

5) Specify the loading buffer components and their purpose in the table below.

 

COMPONENT

 


 

EXAMPLE

 


 

PURPOSE/FUNCTION

 


 

6) Regardless of how your gel was loaded insert a screen shot, create a figure, or

 

draw your PCR gel electrophoresis results below:

 


 

7) Using the pedigree analysis and the linkage analysis answer the following

 

questions:

 

a. Which of the markers is linked to your patient?s disease gene?

 


 

b. Which of the genes corresponds to this result?

 


 

8) List the work flow steps for the protein truncation test.

 


 

BIOL 1040 Unit 7 Week 14 Medical Genetics

 

9)

 


 

Describe the cell source and the results for your truncated protein test.

 


 

10) Which of the sequencing techniques will you use to analyze the truncated

 

protein results further?

 


 

11) Fill in the following NSG information below.

 

a. Reference sequence:

 

b. Exon:

 


 

Within base region:

 


 

c. Read depth:

 

d. Nature of the alteration:

 

e. Description of the mutation:

 

f. Amino acid position:

 


 

12) Describe how the specific mutation creates the truncated protein.

 


 

BIOL 1040 Unit 7 Week 14 Medical Genetics

 

13) The characterized mutation is not 100% penetrant. Name two reasons for this.

 

a.

 

b.

 

c.

 


 

14) Summarize briefly the key differences in oncogenes and tumor suppressor

 

genes in causing cancer.

 

a. Oncogenes

 

b. Tumor suppressor genes

 


 

15) Fill in the table below:

 

GENE

 


 

ONCOGENE OR TSG?

 


 

FUNCTION

 


 

BRCA1

 

BRCA2

 

16) How do caretaker genes maintain genome stability?

 


 

17) HER2-positive breast cancer is treated with a compound called Herceptin.

 

a. What is Herceptin?

 

b. What is the HER2 gene product and what is its function?

 

c. How does Herceptin act to treat HER2 breast cancer?

 


 

WHEN YOU HAVE COMPLETED THE LAB BE SURE TO TAKE THE MEDICAL

 

GENETICS LAB QUIZ IN BLACKBOARD.

 


 

 


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Oct 15, 2019

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