9700_m24_qp_42
A paper of Biology, 9700
Questions:
10
Year:
2024
Paper:
4
Variant:
2

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Cystic fibrosis is an autosomal recessive genetic disease. People with cystic fibrosis have a homozygous recessive genotype. Explain the meaning of the terms homozygous and recessive. homozygous recessive In 2020: • there were 10 800 people with cystic fibrosis in the UK • the UK population was estimated to be 67 100 000 people. A proportion of people in the UK population are heterozygous for the gene that causes cystic fibrosis and do not have symptoms of the disease. Use the Hardy–Weinberg principle to calculate the number of people in the UK population who are expected to be heterozygous for the gene that causes cystic fibrosis. The two equations for the Hardy–Weinberg principle are provided. equation 1 p + q = 1 equation 2 p2 + 2pq + q2 = 1 p = frequency of the dominant allele q = frequency of the recessive allele p2 = frequency of the homozygous dominant genotype 2pq = frequency of the heterozygous genotype q2 = frequency of the homozygous recessive genotype The first stage of the calculation has been completed for you. q2 = 10 800 67 100 000 q = p = 2pq = number of people in the UK expected to be heterozygous for the gene = The Hardy–Weinberg principle provides a useful estimate of the number of people in the UK who are heterozygous for cystic fibrosis. However, the estimate is lower than the actual number. This underestimation occurs because not all the conditions of the Hardy–Weinberg principle apply. In the UK in 2020, the mean life expectancy of: • people with cystic fibrosis was approximately 50 years • all people was approximately 80 years. Explain how this information accounts for the underestimation of the number of people in the UK that are heterozygous for cystic fibrosis. A screening programme for cystic fibrosis was introduced in 2007 for all children born in the UK. Children are tested within seven days of their birth. Children identified from the screening programme as being at high risk of having cystic fibrosis can have a genetic test to confirm whether they have the disease. Table 3.1 shows the median predicted life expectancy for people born in the UK who have cystic fibrosis. Predictions are shown for people born in 2008, 2012, 2016 and 2020. Table 3.1 year of birth median predicted life expectancy / years 38.8 43.5 47.0 50.6 Describe the trend shown in Table 3.1 and outline how early screening for cystic fibrosis may have contributed to this trend. In many countries, a genetic test for cystic fibrosis is available to adults who do not have cystic fibrosis but have a family member who either has cystic fibrosis or is heterozygous for the gene that causes cystic fibrosis. These adults include partners, parents, offspring, brothers and sisters of the family member. The aim is to find out if any of these adults are heterozygous for the gene that causes cystic fibrosis. Discuss the ethical and social considerations of making a genetic test for cystic fibrosis available to these adults.
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Holstein Friesian cattle are a breed of cattle used by dairy farmers in many countries of the world for the high milk yield of their cows. shows Holstein Friesian cattle. Milk yield in Holstein Friesian cattle is affected by heat stress. Heat stress occurs when homeostatic mechanisms are not enough to keep the body temperature down to normal levels. One of the factors that contributes to heat stress is air temperature. shows: • the mean daily air temperature in Central Europe • the mean monthly milk yield per cow of Holstein Friesian cattle in Central Europe. mean daily air temperature / °C mean monthly milk yield per cow / kg cow–1 month Jan Feb Mar Apr May Jun Jul Aug Sep Oct Nov Dec key mean daily air temperature standard error (SE) bar mean monthly milk yield per cow With reference to , describe the trends in air temperature and milk yield from April to August. Many dairy farmers in tropical regions use cattle breeds that are tolerant to heat stress (heat-tolerant cattle). These heat-tolerant cattle: • can tolerate higher air temperatures than Holstein Friesian cattle before heat stress occurs • have milder symptoms of heat stress than Holstein Friesian cattle for the same high air temperatures. Where heat stress does not occur, heat-tolerant cattle produce a lower milk yield than Holstein Friesian cattle under the same conditions. Scientists compared DNA sequences of Holstein Friesian cattle and heat-tolerant cattle for a number of genes known to have an effect on body temperature. Twenty genes were found that had alleles associated only with heat-tolerant cattle. With reference to the information provided, including the data in : • state the type of phenotypic variation shown by milk yield in cattle • identify factors that cause phenotypic variation in milk yield in cattle. In each case, give a reason for your choice. type of phenotypic variation and reason for choice factors that cause phenotypic variation and reason for each choice The scientists found that one of the genes studied, PRLR, has a dominant allele known as SLICK. The SLICK allele was identified in Senepol cattle, a heat-tolerant breed, and is not found in Holstein Friesian cattle. Cattle with the SLICK allele have short hair due to reduced hair growth. Scientists have used selective breeding to introduce the SLICK allele into Holstein Friesian cattle. The milk yields of normal Holstein Friesian cattle and Holstein Friesian cattle with the SLICK allele are shown in , during: • March, when the mean daily air temperature is 5 °C. • September, when the mean daily air temperature is 14 °C. mean monthly milk yield per cow / kg cow–1 month March September key Holstein Friesian cattle Holstein Friesian cattle with SLICK allele With reference to , describe the effect of the SLICK allele on milk yield in Holstein Friesian cattle. The SLICK allele differs from the recessive allele by a single nucleotide deletion. This results in a frameshift mutation and introduces a premature stop codon in the PRLR gene. Scientists can use gene editing to replicate this mutation in Holstein Friesian cattle. This provides a way to introduce the SLICK allele into Holstein Friesian cattle without selective breeding. Compare gene editing and selective breeding for introducing the SLICK allele into Holstein Friesian cattle. Include similarities and differences in your answer.
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A respirometer is a piece of apparatus that can be used to measure the rate of respiration of living tissue such as germinating peas. A simple respirometer is shown in . cm U-shaped tube ruler coloured liquid syringe wire gauze germinating peas test-tube potassium hydroxide solution A student carried out an investigation to determine the effect of temperature on the rate of respiration of germinating peas. • The student set up the respirometer as shown in and placed the respirometer in a water-bath at 10 °C. • After five minutes, the student used the syringe to adjust the position of the coloured liquid in the right-hand side of the U-shaped tube so that it lined up with 0 cm on the ruler. The student immediately started a timer. • The germinating peas used up oxygen, causing the coloured liquid in the U-shaped tube to move. • The student measured the distance moved by the coloured liquid after 20 minutes. • The student repeated the experiment at temperatures of 20 °C, 30 °C, 40 °C and 50 °C. State the function of the potassium hydroxide solution used in the investigation. Suggest how the validity of the results could be assessed. Explain why the respirometer was left in the water-bath for five minutes before starting the experiment. The rate of movement of the coloured liquid in the U-shaped tube, calculated from the results, is shown in Table 6.1. Table 6.1 temperature / °C rate of movement / mm min–1 0.40 0.70 1.30 1.15 0.60 Plot a graph of the results shown in Table 6.1 on the grid in . Draw a curved line of best fit. 0.00 0.10 0.20 0.30 0.40 0.50 0.60 0.70 0.80 0.90 1.00 1.10 1.20 1.30 1.40 rate of movement / mm min–1 temperature / °C The rate of movement of the coloured liquid is related to the rate of respiration. Explain the effect of temperature on the rate of respiration shown in Table 6.1 and .
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The light-dependent stage of photosynthesis occurs within chloroplasts. In this stage, electrons are emitted from the chlorophyll a molecules and passed to electron acceptors. If a redox indicator, such as DCPIP, is added to a suspension of illuminated chloroplasts, electrons will be transferred to DCPIP, causing the colour of the DCPIP to change from blue to colourless. A student investigated the effect of the wavelength of light (colour of light) on the rate of photosynthesis. • DCPIP was added to three colorimeter tubes, each containing a suspension of chloroplasts. The chloroplast suspensions were kept in the dark until required. • The colorimeter tubes were each exposed to light of a different colour: red, blue or green. The intensity of light was the same for all tubes, and each was exposed to light for four minutes. All other conditions were kept the same. • The absorbance of each chloroplast suspension was measured at one-minute intervals using a colorimeter. The results are shown in . 0.6 0.7 0.8 0.9 1.0 1.1 1.2 1.3 1.4 1.5 1.6 absorbance time / min green light blue light red light Explain why the chloroplast suspensions were kept in the dark until required. Describe the results shown in . With reference to the light-dependent stage of photosynthesis, explain the differences between the results shown in for red light and for green light. Changes in the atmospheric carbon dioxide concentration, light intensity and temperature can affect the rate of photosynthesis. These three factors directly affect different processes of photosynthesis. Complete Table 7.1 using a tick (3) to identify the processes that can be directly affected by each factor or a cross (7) to identify the processes that are not directly affected by each factor. Indirect effects where a change in the rate of one process affects the rate of a different process should not be considered. A tick or a cross must be placed in the final column of every row. Table 7.1 factor process 3 or 7 carbon dioxide concentration Calvin cycle photophosphorylation light intensity Calvin cycle photophosphorylation temperature Calvin cycle photophosphorylation
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Approximately 2 × 109 people in the world are currently infected with the bacterial disease tuberculosis (TB) caused by Mycobacterium tuberculosis. Early diagnosis is important so that treatment can begin. APOPO is a non-profit organisation that has trained African giant pouched rats, Cricetomys gambianus, to use their sense of smell to detect M. tuberculosis. They do this by sniffing a sample of thick mucus from the lungs of people who may have TB. The African giant pouched rats are able to detect the presence of M. tuberculosis with an accuracy of 87–93%. shows an African giant pouched rat. The type of receptor cell used by African giant pouched rats to detect M. tuberculosis is the same as that used in human taste buds. Name this type of receptor cell. Suggest why African giant pouched rats trained to detect M. tuberculosis may also be able to detect other species of Mycobacterium that cause TB. The African giant pouched rat belongs to the kingdom Animalia in the domain Eukarya. Complete Table 8.1 to show the full classification of the African giant pouched rat. Table 8.1 kingdom Animalia Chordata class Mammalia Rodentia family Nesomyidae species gambianus Differences between members of the domain Eukarya and members of the domain Bacteria include the presence or absence of particular membrane-bound cell structures. Outline other differences in the characteristic features of members of the domain Eukarya and members of the domain Bacteria. Describe, with reference to the structure of viruses, how viruses are classified.
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