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Tips/ Extra Information: Be sure to properly label your pedigree including Roman and Arabic designations. This part and the write up is where most of the points are lost.
Be sure you select a monogenic disease and not a complex disease.
Write up: The write up is not a description of the pedigree (e.g. III – 3 has the disease and IV – 4 does not) but is a explanation of the disorder, its dominant or recessive or sex-linked inheritance pattern. Also, you should include a brief description of the manifestations and clinical outcomes of the disease. (Include complete references).
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. Not a complex disease like diabetes or cardiovascular disease – if you are not sure ask me.
The pedigree must contain at least five generations and include examples of all of the symbols associated with pedigree analysis, including living and deceased familial members, disease trait carriers vs. fully afflicted individuals, and male vs. female members. All symbols means all of the symbols which include but is not limited to carriers (if applicable), twins, deceased of unknown sex, consanguineous pairing, affected, deceased – check the powerpoint presentation from week 2: Punnett and Pedigrees).
The pedigree must show at least two marriage events – one marriage event in the first generation (I) and an additional second marriage event, and each familial generation must be labeled as is customary for authentic human pedigrees (see powerpoint from week 2 for more information).
The pedigree should have a legend depicting the meaning of the symbols in the pedigree.
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, and its autosomal or sex-linked position in the human genome. Also, you should include a brief description of the manifestations and clinical outcomes of the disease. You should draft this assignment in Word, PowerPoint, or some other graphics program.
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).
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