Reference no: EM133258298

Pedigree Report

Scientists have used domesticated plants (such as pea pods) and animals (such as fruit flies) to study the transmission of various genes. In these cases, controlled breeding experiments can be used to elucidate the mechanism of genetic transfer.

Human genetics, however, cannot be studied by performing controlled crosses. Instead, one must perform a pedigree analysis of inheritance patterns in an existing population. This type of analysis can be extremely valuable for predicting genetic disease.

Early investigation of several human traits indicated a simple Mendelian pattern of inheritance. Recent critical analysis of early data indicates that many proposed mechanisms of inheritance were oversimplified. Many human traits are a result of the cumulative action of polygenes (multiple gene loci) and environmental factors. Difficulties with data analysis can be attributed to non-standardized genotypes, uncontrolled environments, time between generations, and small family size. Despite difficulties, significant advances in human genetics have been made as a result of combining traditional approaches (analysis of phenotypes within family pedigrees) with more recent advances in molecular genetics. This assignment will emphasize the traditional approach to human genetics.

In this assignment, you will construct and analyze your own family pedigree based on various human traits, determine the mode of inheritance of a trait based upon the information in a provided pedigree, and predict the probability of inheriting a genetic disorder.

Additional information is provided in the pages that follow. Construction of the family pedigrees for the inheritance of 5 genetic traits is worth 25 points total (5 points per pedigree), construction of 5 accompanying tables is worth 25 points total (5 points per table), and the analysis of one pedigree including a literature overview of the genetic trait discussed (from the 5 performed) is worth 50 points.

For construction of your family pedigree, you will choose 5 of the characters provided below for analysis. You may choose to do an analysis of other traits, however, please contact me in advance for approval.

You will construct five family pedigrees, each for a different character shown above. Each pedigree should contain 3 familial generations (although 4 are stronglyencouraged): i) your grandparents ii) your parents, iii) yourself (indicated by*) including any siblings, and iv) your children and/or your nieces/nephews. You should have at least 5 individuals total for each pedigree, although more are strongly encouraged. Each pedigree should be labeled with a figure number, stating which trait is analyzed. To accompany each pedigree, construct a Table for each character that contains each individual's phenotype and relationship to you. The pedigrees and accompanying tables should be constructed like the examples discussed in-class (see p. 14). When drawing the family pedigree, you may either hand-draw (if performed neatly!) or use the auto draw function in a word processing program or a pedigree-drawing program.

In addition to the 5 pedigrees and 5 accompanying tables, you will conduct an analysis of one chosen pedigree/table. This discussion should be at least 1 page in length (using standard size 12 font and single spacing). The first part of the discussion should examine the mode of inheritance observed for your family pedigree. This means that you will need to choose a pedigree for which at least one person displays a different phenotype than others within the pedigree. When discussing the mode of inheritance, refer to individuals within your pedigree (see rubric for more details). In addition, discuss the limitations of your pedigree analysis. In the second part of your discussion, include a general description of the trait and the gene(s) that governs the character, inheritance of the character, and the chromosomal location of the encoding gene(s). Please cite at least 3 reputable sources using standard APA formatting that were used for your analysis.

Familial Pedigree Construction and Analysis (100 points total)

For each character (5 characters total) you will be graded according to the following rubric:
1) Construction of family pedigree
o Symbols are drawn properly
o Figure is properly labeled (give the figure a title, figure number, and label each individual within pedigree i.e. 1-1, 1-2) including indicating yourself by*

2) Construction of accompanying table
a. Individual phenotypes are listed correctly along with relationship to self
b. Table is properly labeled (please use Table number and give the table a title)

3) Discussion of one of your one pedigrees
a. Discuss how you believe this trait is transmitted. Refer to individuals in your pedigree during your discussion (i.e. Individual 1- 3 and 1-4 both display a normal phenotype, although their daughter- individual 11-3 -displays the diseased phenotype, therefore the trait is recessive.) Some points you may want to include in your discussion are:
i. Is the trait most likely dominant or recessive? Why?
ii. Is this trait most likely autosomal or sex-linked? Why
iii. Are there any other modes of inheritance/extensions of Mendelian genetics to consider (such as sex-influenced, sex-limited, etc.)? Why or why not?
b. In this section, also discuss the limitations of your pedigree analysis. (5 points). Discuss the simplifications that we made regarding the inheritance of these traits and your own limitation within your pedigree (i.e. size of your family, individuals with unknown phenotype, etc.)
b. Discussion of known literature. During this section, please discuss what the OMIM research studies have found in regards to the mode of inheritance for this trait and general information about the trait. Please include in your discussion:
i. A description of the trait as well as the gene(s) that govern this character.
ii. The chromosomal location of the gene that governs this character (i.e. 6q25.3) (if provided)
iii. The proposed mechanisms of inheritance based on current data.
iv. APA citations for literature used for analysis (i.e. Davenport,

G. C., Davenport, C. B. Heredity of eye color in man. Science 26: 589-592, 1907). Note: you should be able to copy and paste this information from the website.

Attachment:- Pedigree Report.rar