David and Ali were married for 50 years, they retired to Spain, and spent 10 happy years there before Ali died following a bout of pneumonia. David 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.
David and Ali’s second daughter, Mai-Moona had a son when she was 17 years old but would never reveal the identity of the father. She married some years later but divorced after only 10 months. She did not have any more children.
Mai-Moona’s son Jack is married and father to healthy identical twins. David and Ali’s youngest daughter never married her partner, together they have three children, a boy, then a girl, then a boy. Their daughter, Amber is married to Craig.
Amber and Craig have two boys, Amber is pregnant with a girl at the moment. Their oldest child suffers from Haemophilia A, their second child has just been diagnosed with Prader-Willi syndrome.
3) Ali, from the ‘story’ in Q2 carried the haemophilia mutation. What was the percentage chance of it passing to Amber and Craig’s first-born child? Please give your answer as a PERCENTAGE TO ONE DECIMAL PLACE
4) Please give and explain your working for the answer to question 3 AND discuss the chances of Amber and Craig’s unborn girl showing the Haemophilia phenotype (250 words MAXIMUM, please reference your answer)
5) MCQ: Which of the pedigree diagrams above is most likely to show a family with Haemophilia A?
6) MCQ: Which of the Pedigree diagrams above is most likely to show a family with Gaucher Disease
7) MCQ: Which of the Pedigree diagrams above is most likely to show a family with Galactosemia
8) MCQ: Which of the Pedigree Diagrams above is most likely to show a family with Hereditary haemorrhagic telangiectasia
9) MCQ: Which of the Pedigree Diagrams above is most likely to show a family with Becker muscular dystrophy
10) MCQ: What is the most likely inheritance pattern shown in Image D above?
11) Please explain your reasoning for the answers that you gave to questions 5-10. 250 words maximum.
12) The DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol.
One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here:
https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451
Please navigate to the link above and use the information and link-outs from the page to answer the following questions WHEN YOU ANSWER TYPE THE ANSWER ONLY, NO UNITS:
13) How many phenotypes is CACNA1S associated with?
14) What is the NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201)?
15) What is the size in base pairs of the CACNA1S transcript named CACNA1S-202?
16) What is the size in amino acid residues of the CACNA1S transcript named CACNA1S-202?
17) Using the left-hand menu to view the sequence for CACNA1S, what are the last three nucleic acid bases of exon 1?
18) Produce a box and whisker plot to show the amount of DNA in micrograms produced using the silica resin spin column and the inorganic methods of DNA extraction and purification. Also show the mean amounts produced by each method on the chart. NOTE: Data for this plot can be found in the excel workbook in the re-assessment area of the Blackboard site.
19) According to the data and graph produced for Q18, which method gives, on average, the highest yield of DNA?
20) According to the data and graph produced for Q18, which method gives the least consistent yield of DNA?
21) MCQ: What is does the 260 nm light detect when measuring the purity of a DNA sample? Please select the most correct answer.
22) MCQ: What is the role of GelRed® in Agarose gel electrophoresis of DNA fragments? Please select the most correct answer.
23) MCQ: What is the role of di-deoxy DNTPs in a Sanger sequencing reaction? Please select the most correct answer.
24) MCQ: When performing QPCR to study differential gene expression, what is the role of SYBR green? Please select the most correct answer.
25) The gel image below shows 7 alleles, let’s call them 1-7 in order of size, with 1 being the largest and 7 being the smallest. In this sample of 11 individuals, how many times does allele 4 appear? Please type your answer as one whole number, not a word.
26) The gel above shows 7 alleles, in this sample of 11 individuals, what percentage of individuals have allele 7? Please type your answer as a number, rounded to the nearest whole percentage.
27) Imagine the unlikely case that the 11 individuals represented in the gel image above were truly representative of the population. If 1 is the largest and 7 the smallest allele; what is the frequency (f) of allele 6? Give your answer as a percentage, to one decimal place, do not include the % symbol.
28) The gel image above shows 7 alleles, let’s call them 1-7 in order of size, with 1 being the largest and 7 being the smallest. What is the approximate size in Kbp of allele 1? Please type your answer as a number to 2 decimal places, please do not add units.
29) If the frequency of those exhibiting a monogenic autosomal recessive phenotype caused by only one known mutation is 1/18900 in a given population, what is the carrier frequency? Please give your answer as a percentage to 3 decimal places, do not include the % symbol.
30) If the frequency of those exhibiting a monogenic autosomal recessive phenotype caused by only one known mutation is 1/18900 in a given population, what is the frequency of the wild type allele? Please give your answer as a percentage to 3 decimal places, do not include the % symbol.
31) If the frequency of those homozygous for a specific mutation that causes an autosomal monogenic recessive condition in a given population of 2 million individuals is 1/18900, how many individuals are likely to be carriers of the causative mutation?

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