9700_w20_qp_41
A paper of Biology, 9700
Questions:
10
Year:
2020
Paper:
4
Variant:
1

Login to start this paper & get access to powerful tools

1
2
Domestic goats are small, herbivorous animals that provide milk for human use. Goats’ milk is an important source of food for people living in rural China. Xinong Saanen and Guanzhong are the names of two varieties of goat common in China. In these breeds, there is genetic variation at nucleotide position 5752 of a gene coding for a growth factor. At this position there is either a cytosine (C) or a guanine (G) nucleotide. Some individuals are homozygous for the allele containing C at this position (CC), some are homozygous for the allele containing G at this position (GG) and some are heterozygous (CG). Table 2.1 compares the mean milk yield of the first milk-producing period (first lactation) and the next milk-producing period (second lactation) for Xinong Saanen goats of each genotype. Table 2.1 genotype at position 5752 mean milk yield / kg first lactation second lactation CC CG GG Variation in a phenotypic characteristic such as milk yield is caused by a combination of genetic and environmental factors. Goats also show variation in milk yield between the first lactation and second lactation. Suggest, with reasons, whether the variation in milk yield between the first lactation and second lactation, as shown in Table 2.1, is genetic or environmental. The variation at position 5752 of the gene coding for a growth factor is due to a substitution mutation from G to C. With reference to Table 2.1, describe the importance of the substitution from G to C. In a population of 268 Xinong Saanen goats: • the frequency of the C allele is 0.30 • the frequency of the G allele is 0.70. The Hardy-Weinberg principle can be used to predict the number of goats with CC, CG and GG genotypes in the population, using the equation: p2 + 2pq + q2 = 1 For example, the number of goats with genotype GG can be predicted to be 131. Use the Hardy-Weinberg principle to predict the number of goats with genotypes CC and CG in this population of Xinong Saanen goats. number of goats with genotype CC number of goats with genotype CG Table 2.2 shows the actual number of goats with each genotype in a population of Xinong Saanen goats and in a population of Guanzhong goats. Table 2.2 population total number of goats number of goats of each genotype allele frequency CC CG GG p q Xinong Saanen 0.70 0.30 Guanzhong 0.81 0.19 A close match between your predicted figures in and the actual numbers in Table 2.2 would mean that the Xinong Saanen population is in Hardy-Weinberg equilibrium. State the name of a statistical test that could be used to find out whether or not the Xinong Saanen population is in Hardy-Weinberg equilibrium. The predicted numbers of goats with each genotype in the Guanzhong population according to the Hardy-Weinberg principle are: • CC = 16 • CG = 135 • GG = 289. These figures are significantly different from the actual figures in Table 2.2. With reference to Table 2.2, describe the evidence that shows that the Guanzhong population is not in Hardy-Weinberg equilibrium and suggest reasons for this. Goats can be genetically modified to produce human proteins in their milk. In 2009, an anti-clotting protein produced in this way was approved for use as a drug in people who lack the protein. State one ethical advantage and one ethical problem of producing medicinal drugs from the milk of genetically modified goats. advantage problem
3
4
There are a number of mutations affecting the production of fetal haemoglobin, HbF, and normal adult haemoglobin, HbA. • The HbA allele codes for the normal β-globin polypeptide of haemoglobin. • The HbS allele, caused by a base substitution mutation, codes for an abnormal β-globin polypeptide. • The base substitution results in the amino acid glutamine, which has a polar R group, to be replaced by valine, which has a non-polar R group, in the polypeptide. The abnormal haemoglobin molecules (HbS) form fibres in low partial pressures of oxygen (pO2). The fibres cause red blood cells to become sickle shaped and the cells can block blood capillaries. Individuals with adult haemoglobin molecules that are all abnormal (HbS) have sickle cell anaemia. This is a painful chronic condition that can be life-threatening. Explain why this mutation causes the HbS to form fibres. Fetal haemoglobin, HbF, is produced by the fetus until just before birth, when adult haemoglobin begins to be made. By the age of six months, adult haemoglobin has replaced most of the HbF. This change occurs when the genes coding for HbF are switched off and the genes coding for adult haemoglobin are switched on. • A base substitution, British-198, causes fetal haemoglobin to continue to be produced. • Normally by the age of six months, the concentration of HbF reduces to less than 1% of total haemoglobin. • With the British-198 mutation, the concentration of HbF may be as high as 20% of total haemoglobin in an adult. • HbF has a higher affinity for oxygen at low pO2 than adult haemoglobin. Individuals who have both sickle cell anaemia and British-198 mutation have reduced symptoms of sickle cell anaemia. Suggest why having the British-198 mutation reduces the symptoms of sickle cell anaemia. In adults with the British-198 mutation, the gene coding for a fetal haemoglobin polypeptide remains switched on. This is due to the presence of a protein that controls gene expression. State the term that is used to describe a protein that controls gene expression. Gel electrophoresis can be carried out to test individuals for the different versions of haemoglobin: HbA, HbS and HbF. • A buffer with alkaline pH is used to make all haemoglobin molecules negatively charged. • HbS molecules have an additional positive charge compared to HbA. Describe and explain how gel electrophoresis is used to diagnose sickle cell anaemia. Four individuals had their haemoglobin analysed by gel electrophoresis. One of the individuals was heterozygous for the HbA and HbS alleles and had a condition known as sickle cell trait (SCT). Some of the results are shown in . In , lane 1 and lane 5 are complete. lane 1 individual with normal phenotype one-month- old baby with normal phenotype individual with SCT individual with sickle cell anaemia reference lane 2 lane 3 lane 4 lane 5 HbA HbF HbS Predict the results for the individuals analysed, by adding bands to lanes 2, 3 and 4 on .
5
shows a cat displaying the recessive phenotype for two unlinked genes. • H/h controls hair length. The allele for short hair is dominant to the allele for long hair. • R/r controls coat pattern. The allele for ‘full colour’, with pigment on all parts of the body, is dominant to the allele for ‘pointed’, where the pigment is restricted to the ears, face, paws and tail. Draw a genetic diagram to predict the offspring genotypes and phenotypes when the cat in is crossed with a cat that is heterozygous for the hair length gene and heterozygous for the coat pattern gene. parent phenotypes: parent genotypes: gametes: F1 genotypes: F1 phenotypes: Scientists isolated two sections of DNA thought to correspond with the allele for full colour (R) and the allele for pointed . Sequencing these two DNA sections showed that the DNA sequence for full colour, R, had a restriction site for the restriction enzyme HpaII. This restriction site did not occur in the DNA sequence r because of a single nucleotide substitution. The scientists then carried out an analysis of three generations of cats. Each cat was assessed for three features: • coat pattern, full colour or pointed • the presence or absence of the HpaII restriction site • the pair of alleles present at a variable marker locus thought to lie close to the R/r locus. The marker locus has seven different alleles designated as 1, 2, 3, 4, 5, 6 and 7. shows the relationships of these cats and the results of the assessment. – – – – – – – + – + – + – – – – HpaII restriction site absent HpaII restriction site present are alleles at the marker locus full colour male pointed male full colour female pointed female Key – + 1–7 – – + + – – Identify evidence from to support these statements: the pointed phenotype is due to a recessive allele the R/r gene is located on an autosome the marker locus and R/r are closely linked.
6
7
8