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BIOL 220 7380 Human Genetics (2208)

Human Disease Pedigree Analysis Report

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Instructions
Addresses Course Outcomes 1-4:

1. use knowledge of the fundamental principles of genetics and inheritance to understand the contributions of genetics to human physiology and behavior

2. recognize that genes are associated with physical and behavioral traits, and that these associations can be established and studied using the tools of molecular biology

3. identify and distinguish the contributions of genes and the environment, and the outcome and manifestation of specific traits, to frame relevant questions that impact community, medical, and behavioral health

4. recognize the commonalities underlying human genetic disease and identify the most prevalent types of human genetic illness in order to use the specific avenues for the screening, counseling, risk management, and treatment of genetic diseases

You are expected to prepare a human pedigree detailing the inheritance of a single genetic disease or disorder. The disease should follow Mendelian inheritance pattern. The disease selected should be a real disease, see OMIM https://omim.org/ , but the family on which the pedigree is based is fictional.

The pedigree must contain at least five generations and include examples of all of the symbols associated with pedigree analysis, including but not limited to living and deceased familial members, disease trait carriers vs. fully afflicted individuals, and male vs. female members, consanguineous mating.

The pedigree must show at least two marriage events (one in the first generation and another in later generations), and each familial generation must be labeled as is customary for authentic human pedigrees.

After depicting the disease on the pedigree, you should include in your brief summary:

A brief (two- to three-sentence) explanation of the disorder, its dominant or recessive inheritance pattern, its autosomal or sex-linked position in the genome and the gene name in the human genome. Also, you should include a brief description of the manifestations and clinical outcomes of the disease and include complete and properly formatted references according to APA formatting standards.

You should draft this assignment in Word, PowerPoint, or some other graphics program, and upload it to the Assignments folder by the date indicated in the syllabus.

This assignment is worth 100 points (25 points for the five-generation pedigree; 25 points for the correct use of pedigree annotation and labeling; 25 points for appropriate depictions of the inherited disease or disorder on the pedigree; and 25 points for the write-up at the bottom of the pedigree, detailing dominant vs. recessive and autosomal vs. sex-linked inheritance patterns). Please refer to rubric for more grading information for this assignment. Please also pay attention to the grading rubic for this assignment for additional information.

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Rubric Name: Human Disease Risk Outcome Pedigree

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