Genes, Genomics and Human Health Mendelian Phenotype - Health Assignment Help

Assignment Task:

Task:

This is a guide to completing Assessment

1: for details on the marking rubric and the due date, please see the Learning Guide. There are two main outcomes for this assessment:

1. to consider the key differences between the genetics of a Mendelian phenotype and a phenotype that is genetically complex and is common in a population

2. to format the assessment in a way that is similar to a scientific paper, and that provides an over-arching narrative: bringing together information and placing it in a broader context This is a 1000-word written report that is based on selected information in two research papers that identify either a rare mutation (Paper 1) or more common polymorphisms (Paper 2) in the gene BACH2 that cause (Paper 1) or are associated (Paper 2) with immune system dysfunction.

The cellular phenotype is attributable to reduced BACH2 protein expression.

(a) BACH2 protein expression in primary immune cells from affected subjects and healthy controls. Shown are representative flow cytometry plots (left; numbers indicate the mean fluorescence intensity) and cumulative BACH2 protein expression (right) in affected subjects relative to controls (n = 3 independent experiments) In the example above, you can see that the text is describing wat the figure is showing. Below is the text in the paper that interprets the figure: BACH2 silencing mimics immunodeficient cell phenotypes “We next measured BACH2 protein expression by flow cytometry and found that it was reduced in CD4+, CD8+ and B lymphocytes in affected subjects, despite normal mRNA expression in these people compared with that in healthy controls (Fig. 3a, b)”.

The authors then interpret the rest of Figure 3, before concluding: “These observations suggested a causal relationship between reduced BACH2 expression and cellular phenotype”.

Taken together, the figure legend describes what is being shown in the figure; the text accompanying the figure highlights key findings (“…and found that it was reduced in CD4+, CD8+ and B lymphocytes in affected subjects, despite normal mRNA expression…”).

The conclusion differs from the results in that conclusion looks at the results in the broader context of how this paper contributes to our understanding of genetics and its role in immune system dysfunction.

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