Cystic Fibrosis
Cystic Fibrosis (CF) is an inherited disease caused by a mutation in a gene responsible for producing a protein called “cystic fibrosis transmembrane regulator” (CFTR).
Most people have 2 genes which produce this protein, but only one is needed to prevent the disease. This means that CF is “autosomal recessive”, meaning that a person with the disease has a mutation in both CFTR (one mutated gene from each parent). Someone with one mutated gene and one normal gene is a carrier. Carriers do not show the symptoms of CF, as they have one working gene, but they may pass a copy of the defective gene onto their children.
The CFTR gene is responsible for producing the CFTR protein, which allows Cl- ions to diffuse out of cells in water regulation. If the gene in the DNA is mutated, the mRNA produced in transcription will code for the wrong sequence of amino acids, so the protein made by the mRNA in translation will be the wrong shape, and therefore will not function correctly.
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Peer Reviews
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Quality of writing
One or two extra spaces between words, probably due to typing error and then lack of proofreading the work. Spelling and punctuation are accurate, and the grammar is mainly accurate.
Level of analysis
Good introduction explaining what cystic fibrosis is. Goes on to explore the content with in depth gene analysis which is what I would expect from a well rounded higher level A level candidate, with multiple diagrams included and explained. Goes on to explain possible future improvements in the work on finding a cure, but could explore around the subject to a much higher level of depth. Could also develop their own conclusions as to how the disease may be treated or evaluate treatments that are available for the condition now rather than only describing symptoms. Does not explore the reasons for infertility in the males which could be another possible route to explore to increase the depth of analysis showed by the candidate. Terms are as expected for this level scientifically.
Response to question
Good overall essay on cystic fibrosis. Sources used could be set out better with the references being put on a separate page with citations and proper referencing throughout the text to receive a higher level. Good depth of analysis and response to the overall topic, but the topic could have been examined a lot further with possible treatments as well as symptoms.
