Gene Traits

A. Respond to the following prompts.
1. Describe at least two specific uses of DNA testing besides testing for genetic defects in children.
2. Describe the structure and location of DNA.
3. Explain the meaning and process of DNA replication.
a. Explain why a mutation can or cannot occur during replication.

B. You remember that in Fragile X there is some dysfunction in the production of a protein. You consult research literature to learn more about what protein is involved and then review the interaction of RNA, proteins, chromosomes, and genes so that you can formulate a complete description and explanation of the syndrome (National Fragile X Foundation, 2006). PCR produces millions of DNA copies from the one initial template strand.
1. Describe the natural process that PCR mimics.
2. Describe the steps of PCR.
a. Explain the purpose of each step.
3. Explain why PCR is a revolutionary technique for molecular biologists.
4a. Give a brief description of the function of the chromosomes and genes next to each drawing.
6. Briefly describe the breakdown in protein synthesis in Fragile X.

C. Further investigation into Fragile X reminds you that the defect is carried on the X chromosome. This is important and helps to explain gene expression differences in males and females.
1. In order to help the parents understand how the defect could be inherited, develop a set of drawings that show how genes are replicated and randomly sorted during gamete production.
2. Provide a brief explanation (suggested length of 1/2 page) for the parents, who are concerned about whether their daughter might also be affected.
a. Discuss expression of the defect in males versus females.

D. You have just received the report of the chromosome test that you sent to the lab. You have also received the report of the FMR1 gene test. Both tests show definite signs of a full mutation Fragile X gene expression.
Note: Refer to the Fragile X web link in the Web Links section.
1. Provide a brief explanation (suggested length of 1/2 page) of the role of mutations in the DNA sequence of the X chromosome and FMR1 gene that causes Fragile X.

E. When you use sources, include all in-text citations and references in APA format.

Note: This task allows you to submit pictures, graphics, and/or diagrams. Each file must be an attachment no larger than 30 MB in size. Diagrams must be original and may be hand-drawn or drawn using a graphics program. Do not use CAD programs because attachments will be too large.

Note: For definitions of terms commonly used in the rubric, see the attached Rubric Terms.

Note: When using sources to support ideas and elements in a paper or project, the submission MUST include APA formatted in-text citations with a corresponding reference list for any direct quotes or paraphrasing. It is not necessary to list sources that were consulted if they have not been quoted or paraphrased in the text of the paper or project.

Note: No more than a combined total of 30% of a submission can be directly quoted or closely paraphrased from sources, even if cited correctly. For tips on using APA style, please refer to the APA Handout web link included in the General Instructions section.



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