9700_m20_qp_42
A paper of Biology, 9700
Questions:
10
Year:
2020
Paper:
4
Variant:
2

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Severe combined immunodeficiency (SCID) is a group of life-threatening diseases. SCID is caused by mutations that prevent the normal function of the immune system. Infants born with SCID are at very high risk of infectious diseases. One feature of SCID is that T-lymphocytes do not develop normally. In the development of normal T-lymphocytes, the production of circular pieces of DNA called T-lymphocyte receptor excision circles (TRECs) is an important event. It is possible to use the polymerase chain reaction (PCR) to detect TRECs in DNA extracted from a sample of blood. The results of this reaction can be used to identify children with SCID. Describe the role of the primers in the PCR used for the detection of TRECs. Suggest and explain how the results of PCR for the detection of TRECs can be used to identify children with SCID. Before 2010, children in the United States of America (USA) were tested for SCID either: • if someone in their family history had SCID, or • if they developed several infections in a short space of time. From 2010, the USA started to introduce a screening programme for SCID, in which children were tested soon after birth. By 2016, the screening programme was used for nearly all children in the USA. shows the percentage contribution of each of these three approaches to the identification of children with SCID from 2010 to 2016 in the USA. percentage contribution to the identification of children with SCID 2010 2011 2012 2013 year 2014 2015 2016 key family history infections screening programme With reference to , describe how the contribution of the three approaches to the identification of children with SCID changed from 2010 to 2016. Suggest the advantages of screening all children for SCID soon after birth. One form of SCID is caused by a mutation that results in a deficiency of the enzyme adenosine deaminase (ADA). Children with ADA-deficient SCID can be treated with gene therapy using a virus. After successful gene therapy, the children are able to produce ADA for themselves. Suggest how children with ADA-deficient SCID can be treated with gene therapy using a virus. Outline the challenges of using a virus for gene therapy.
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The rainbow trout, Oncorhynchus mykiss, is a fish that is bred in commercial fish farms. Rainbow trout that have a blue-silver colour are sold at a higher price than rainbow trout that have a brown colour. The number of fish with each of the different colours was recorded in a breeding population in one fish farm. • population total = 2936 • number of blue-silver fish = 1437 • number of brown fish = 1499 The colour of rainbow trout is controlled by a single autosomal gene with two alleles, one dominant and one recessive. The blue-silver colour occurs when a fish is homozygous for the recessive allele. The formulae of the Hardy–Weinberg principle state that: p + q = 1 p2 + 2pq + q2 = 1 Use these formulae to calculate the expected number of brown fish that are homozygous, if the Hardy–Weinberg principle applies to this population. Show your working. answer = Some scientists suggested that the Hardy–Weinberg principle did not apply in this situation because the rainbow trout were being kept in a commercial fish farm. State two conditions that must be met by this commercial fish farm population for the Hardy–Weinberg principle to apply. Describe how selective breeding can be used to increase the proportion of rainbow trout with a blue-silver colour in commercial fish farms. The Atlantic salmon, Salmo salar, can be genetically modified (GM). GM Atlantic salmon are bred in commercial fish farms for food production. In 2017, GM Atlantic salmon bred in Canada became the first GM animal to enter the human food chain. Explain how the genetic modification of the Atlantic salmon can be used to increase food production.
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To identify the function of a gene, scientists can insert a copy of the gene into a plasmid to create recombinant DNA. The plasmid is then transferred into a host bacterium to express the gene. Define recombinant DNA. One plasmid used by scientists for this purpose is pIRES2-EGFP. shows the main features of pIRES2-EGFP. multiple cloning site (MCS) promoter region gene for antibiotic resistance gene coding for green fluorescent protein (GFP) This plasmid includes a gene that codes for a fluorescent protein, GFP. Explain the purpose of including a gene for a fluorescent protein in the plasmid. A gene with unknown function was inserted into the multiple cloning site (MCS) of pIRES2-EGFP. The MCS contains the target nucleotide sequence for a number of different restriction endonucleases. The nucleotide sequence of the MCS in pIRES2-EGFP is shown in . 5' 3' 3' 5' C G T A C G A T G C A T T A C G C G T A T A T A T A T A T A T A T A T A C G C G C G T A C G G C G C G C C G G C G C C G C G C G C G C G C G C G C G G C G C G C C G C G C G G C G C G C G C G C G C G C A T A T A T G C A T A T A T A T A T A T The nucleotide sequences targeted by six restriction endonucleases and the way in which these enzymes cut DNA are shown in . 5' 3' 3' 5' G C G C A T T A C G C G BamHI 5' 3' 3' 5' A T G C A T T A C G T A Bg/II 5' 3' 3' 5' G C A T A T T A T A C G EcoRI 5' 3' 3' 5' G C T A C G G C A T C G Sa/I 5' 3' 3' 5' C G C G C G G C G C G C SmaI 5' 3' 3' 5' C G T A C G G C A T G C XhoI Describe the type of end produced when DNA is cut using the restriction endonuclease SmaI. Scientists used two of the restriction endonucleases shown in to obtain the gene with unknown function for inserting into the MCS of pIRES2-EGFP. shows the gene obtained after cutting with these two restriction endonucleases, including the nucleotide sequences of the two ends. The DNA START codon, ATG, and DNA STOP codon, TAA, are shaded. 5' 3' T C G A G C A T T A G C 3' 5' T A A T A T G C A G C T DNA sequence of gene Name the two restriction endonucleases in that were used to cut the MCS of pIRES2-EGFP so that the gene shown in could be inserted. The nucleotide sequence of the MCS in pIRES2-EGFP is shown in . On , draw around the group of nucleotides in the MCS that were removed to insert the gene shown in . To identify the function of the gene, it is important that the gene can be easily inserted into the plasmid and, once inserted, that it is expressed. Suggest one reason why scientists used different restriction sites at the 5' end and 3' end of the gene for inserting the gene into the plasmid. Name the enzyme used to join the cut ends of the gene to the cut ends of the plasmid.
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The sea otter, Enhydra lutris, is a marine mammal that lives on the coasts of the North Pacific ocean. shows a sea otter. Table 6.1 shows part of the classification of the sea otter. Table 6.1 taxonomic group name phylum Chordata Mammalia order Carnivora Mustelidae genus Enhydra species lutris Complete Table 6.1 by adding the correct taxonomic groups in the two spaces provided. There were estimated to be about 300 000 sea otters in the year 1700. • Extensive hunting for their fur resulted in the numbers of sea otters falling to about 1000 by the year 1911, when most hunting was banned. • The population size then increased to about 125 000 by the year 2012. All of the sea otters alive today are descended from the 1000 individuals alive in the year 1911. Outline the genetic consequences to a species, such as the sea otter, of having a large population that is descended from a very small number of individuals. Seaweeds, such as kelp, are large algae that can grow to be over 30 metres in length. In the ocean along the coasts of California, USA, there are very dense areas of kelp called kelp forests. Kelp forests are very productive and diverse ecosystems. shows a kelp forest. The sea otter is a keystone species in kelp forests along the coasts of California. This means that sea otters have a larger than expected effect on other organisms in these kelp forests. The loss of the sea otter would cause major changes to the kelp forest ecosystem and a reduction in biodiversity. Sea otters may spend up to five minutes under water while searching for food. During this time, respiration in anaerobic conditions takes place. When a sea otter first returns to the surface of the ocean, its breathing is faster and deeper than normal. Explain why its breathing is faster and deeper than normal. The striated muscle of the sea otter is composed of fibres called myofibrils. Myofibrils are made of units called sarcomeres. Describe the proteins that are involved in the contraction of a sarcomere.
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