Cysteine is an amino acid containing sulfur. Fig. 2.1 shows the structure of the molecule formed by joining two cysteine molecules together. SH H-O O H C-C-N-C-C-N H H CH₂ SH Fig. 2.1
- (a)Cysteine is an amino acid containing sulfur. Fig. 2.1 shows the structure of the molecule formed by joining two cysteine molecules together. SH H-O O H C-C-N-C-C-N H H CH₂ SH Fig. 2.1 Draw a circle around an R-group in the molecule shown in Fig. 2.1.[1]
- (b)(i)Goblet cells in the human gas exchange system produce proteins called mucins. The ends of mucin molecules contain many cysteine residues. Mucin strands are formed by joining the ends of mucin molecules together through covalent bonds between R-groups. State the name of these covalent bonds.[1]
- (b)(ii)Mucin strands are transported out of the goblet cells and then absorb water to form mucus. Suggest and explain how mucin strands are transported out of the goblet cells.[3]
- (c)Cystic fibrosis is a genetic disease caused by a mutation in the human CFTR gene. This results in mucus that is thicker than normal. Suggest how thicker mucus interferes with the maintenance of healthy gas exchange surfaces in the lungs.[2]
- (d)(i)Row 1 and row 2 of Table 2.1 show the DNA base sequences of part of the normal CFTR allele and the same part of a mutated CFTR allele. The base sequences shown are for the DNA strands used in the synthesis of RNA. When Table 2.1 is completed, row 3 will show the base sequence of the RNA synthesised from the same part of the mutated CFTR allele. Table 2.1 1 | DNA base sequence of part of the normal CFTR allele | T | A | G | T | A | G | A | A | A | C | C | A 2 | DNA base sequence of part of the mutated CFTR allele | T | A | G | T | A | A | C | C | A | C | A | A 3 | RNA base sequence synthesised from the mutated CFTR allele | | | | | | | | | | | | | The difference between the DNA base sequence in row 1 and the DNA base sequence in row 2 of Table 2.1 is caused by a single gene mutation. State the name of this type of gene mutation.[1]
- (d)(ii)Row 1 and row 2 in Table 2.1 show the DNA strands used in the synthesis of RNA. State the term used to describe the DNA strand that is used in the synthesis of RNA.[1]
- (d)(iii)Complete Table 2.1 to show the missing bases in row 3.[1]
- (d)(iv)The normal CFTR allele is approximately 189000 base pairs in length. The CFTR polypeptide consists of only 1480 amino acids. Explain the reasons for this difference between the number of base pairs and the number of amino acids.[3]
This question uses a diagram from the original paper, which isn't shown here. Open the full paper from the past papers archive to see it.
Mark scheme
Marking points from the official mark scheme (Feb/Mar 2023). The mark or mark type is shown in brackets.
- [1] Question 2(a) Answer either R group circled ; [Image of molecule with one CH2-SH group circled]
- [1] Question 2(b)(i) Answer disulfide (bonds);
- [3] Question 2(b)(ii) Answer exocytosis; plus any two from: either: (idea of) vesicles will be large enough to contain many mucins / ref. to bulk transport ; vesicles forming from Golgi, body / apparatus ; vesicles moved by microtubules / cytoskeleton (to cell surface membrane) ; vesicles fuse with cell surface membrane ; active process / requires ATP ; AVP; e.g. mucins are, polar / hydrophilic, so cannot cross, phospholipid bilayer / hydrophobic core of membrane or: mucin molecules are hydrophilic ; can exit via protein channels ; by facilitated diffusion;
- [2] Question 2(c) Answer any two from: (because mucus is too thick) cilia, have difficulty / AW, moving the mucus (upwards); pathogens, build up / not removed / AW ; more chance of, infection / disease; AVP;
- [1] Question 2(d)(i) Answer deletion ;
- [1] Question 2(d)(ii) Answer transcribed / template; R transcription strand I anti-sense / coding, strand
- [1] Question 2(d)(iii) Answer AUC AUU GGU GUU ;
- [3] Question 2(d)(iv) Answer any three from: 1 idea of 3 bases coding for 1 amino acid ; 2 introns removed from, primary transcript RNA / AW ; A gene splicing / RNA splicing A mRNA does not contain introns R if not in correct context (primary transcript to mRNA) 3 introns / non-coding DNA, do not code for amino acids ; 4 (only) exons are joined together (to form mRNA) ; 5 DNA triplet / mRNA codon, for STOP does not code for an amino acid ; 6 methionine at start / first amino acid / amino acid coded for by START codon, removed ; 7 AVP; e.g. ref. to (upstream) enhancer sequences ref. to (downstream) terminator sequences ref. to (non-coding) regulatory sequences / promoter
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