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The researcher decides to design a polymerase chain reaction (PCR) assay to screen HCM patients for the risk allele. To determine if a patient is homozygous for the risk allele, homozygous for the reference allele, or heterozygous (i.e. carries one copy of each allele), the assay must simultaneously amplify and measure the presence of both alleles (risk and reference).
Which approach would you recommend for the assay? (1 mark)
The ecologists successfully repeat the Sanger sequencing experiment and discover that the gene bears recognisable sequence similarity to the human actin genes (e.g. ) and codes for a protein that is similar to actin in structure and function. Select the correct statement: (1 mark)
How does the genome of the novel organism likely compare to the human genome? (1 mark)
What is the most likely classification of the novel organism? (1 mark)
The ecologists used a quantitative PCR (qPCR) assay to investigate the abundance of the novel organism in several different ecological niches including hydrothermal vents, deep-sea sediments and shallow coastal waters. The qPCR assay was performed using a primer that specifically targeted a gene carried by the novel organism.
Examine the qPCR results shown above. Which ecological niche (hydrothermal vents, deep-sea sediments, shallow coastal waters) had the highest abundance of the novel organism? Briefly explain how you reached this conclusion. (2-3 sentences) (2 marks)
The researcher conducted the GWAS using next-generation sequencing technology. Did the researcher conduct whole genome sequencing or whole exome sequencing? Use the information available above to justify your response. (2-3 sentences) (2 marks)
The ACTC1 gene encodes an actin protein that is only expressed in cardiomyocytes (i.e. cardiac muscle cells). The schematic below shows the histone modifications that are present in the promoter region in cardiomyocytes vs fibroblasts (i.e. skin cells).
Use the information provided above to explain why the gene is actively expressed in cardiomyocytes but not fibroblasts. (2-3 sentences) (2 marks)
Use the drop-down boxes to complete the following sentences: (0.5 marks each, 1 mark total)
In cardiomyocytes the
In fibroblasts the
The ACTB gene encodes an actin protein that is ubiquitously expressed in all human cells. As shown in the schematic below, the promoter region of the gene is embedded within a CG island.
The researcher uses a specialised laboratory technique to examine DNA methylation in the promoter region. What do you hypothesise the researcher will find? (1 mark)
The ACTB and genes are located on two different chromosomes as shown in the image below.
Use the drop-down boxes to classify the chromosomes. (0.5 marks each, 1 mark total)
ACTB is located on
ACTC1 is located on
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