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1) Give an html reference to the most relevant page for this condition in the Ensemble database.

Questions 1-8 represent the components of a ‘short summary’ for a genetic condition.

Please answer questions 1-8 with reference to Sickle Cell Disease.

 

1) Give an html reference to the most relevant page for this condition in the Ensemble database.

 

2) What is the population frequency of the disorder that you have chosen to report on? 50 words maximum. Please provide a reference for your answer.

 

3) What is/are the locus/loci of the major genetic change(s) resulting in the disorder that you have chosen to write about? 50 words Maximum. Please provide a reference for your answer

 

4) Give details of the precise cytogenetic or molecular abnormality, i.e. the nature of the genetic mutation(s) or anomaly Note: If the condition that you have chosen to write about has multiple genetic causes please choose the most common one or two to describe here.100 words Maximum. Please provide a reference for your answer

 

5) Describe plausible mechanism(s) for the original occurrence of the most often seen causative mutation(s) for the condition which you have chosen to write about. 100 words Maximum. Please provide a reference for your answer.

 

6) Please provide details of the inheritance pattern(s) of the disorder that you have chosen to write about. Note: If the condition that you have chosen to write about has multiple modes of inheritance please choose the most common one or two to describe here. 100 words Maximum. Please provide a reference for your answer.

 

7) Please provide an explanation for the mechanistic basis of the disorder that you have chosen to write about. Note: It is recommended that you begin with the molecular biology, progress to the biochemistry and then to the physiology. 150 words Maximum. Please provide a reference for your answer.

 

8) Please give a brief account of symptoms, treatments and prognosis for the disorder which you have chosen to write about. 200 words Maximum. Please provide a reference for your answer. Your work must be fully referenced in the Harvard style. Please remember that references are especially important whenever you quote a figure (population frequency for example) so that

your reader can verify the information and put it into context for themselves.

 

 

 

 

 

 

 

9) Please produce a simple pedigree diagram to convey the information shown in italics below, following the conventions explained to you during teaching sessions and supplied as part of the learning material. Save your diagram as a picture file and upload it into the answer field in the blackboard test.

Note: you may use the `Progeny tool` application to produce your pedigree. You may also hand

Draw it but if you do then please print a copy of the guide sheet provided in blackboard as a background, then take a photo of your work to upload. You may also use any other software or system that suits you but keep the process simple to produce a neat, correct pedigree, swiftly.

 

Charles and Peggy were together for 51 years, they retired to the south of France, and spent 9 happy years there before Peggy died following a stroke. Charles died not long after, peacefully in his sleep. They had three daughters, the eldest married young and had one boy child who died in the 1980’s from HIV. He had contracted the virus from contaminated blood products used to treat his Haemophilia. Charles and Peggy’s second daughter, Lilly, had a son when she was 16 years old but would never reveal the identity of the father. She married some years later but divorced after only 10 months her second child who has Down syndrome was born soon thereafter. She did not have any more children.

Lilly’s son Jack is married and father to healthy identical twins. Charles and Peggy’s youngest daughter never married her partner, together they have three children, a boy, then a girl, then a boy. Their daughter, Chloe, is married to Craig.

Chloe and Craig have two boys, Chloe is pregnant with a girl at the moment. Their oldest child suffers from Haemophilia A, their second child has just been diagnosed with Partington syndrome.

 

10) Peggy, from the ‘story’ in Q9 carried a mutation for Partington syndrome. What was the percentage chance of it passing to Chloe and Craig’s first-born child? Please give your answer as a PERCENTAGE TO TWO DECIMAL PLACES

 

11) Please give and explain your working for the answer to question 10.

 

12) Discuss the chances of Chloe and Craig’s unborn girl showing the Partington

syndrome phenotype (150 words MAXIMUM, please reference your answer)

 

 

 

 

 

 

 

 

 

 

 

 

 

 

13) Which of the following images (A-D) best illustrates the inheritance pattern for Christianson syndrome?

 

 

14) Please explain how you arrived at your answer to question 13 (100 words maximum)

 

15) The DNA of every individual in the pedigree shown in Q13 – image B has been sequenced at the causative locus, all the non-shaded individuals are wild type apart from IV.2 who has been proven to have the causative mutation for the condition but exhibits no symptoms. Based on this pedigree, what is the level of penetrance for the condition? Please give your answer to the nearest whole percentage point, give the number only, no percentage symbol.

 

The gene mutated in cases of Marfan syndrome is FBN1 (fibrillin 1) the ensemble database holds details of what is known about it.

 

https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166147;r=1 5:48408306-48645849 

 

Please navigate to the link above and use the information and link outs from the page to answer the following questions:

16) How many phenotypes is FBN1 associated with?

17) How many of FBN1’s splice variants are protein coding?

18) What is the size in base pairs of the FBN1 transcript named FBN1-201?

19) What is the size in amino acid residues of the FBN1 transcript named FBN1-205?

20) Mutations in FBN1 have pleiotropic effects. Please define and briefly discuss pleiotropy. 200 words maximum, please reference your answer.

Table to show weightings for questions to help you allocate effort

 


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