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Chapter 19 Answers

1. Amorphic mutations result in the loss of a functional protein due to changes in the gene or allele that codes for an enzyme, preventing it from catalyzing reactions and acting as a recessive allele. 2. In sickle-cell anemia, heterozygotes have one normal and one mutant hemoglobin allele and are generally healthy except in low oxygen conditions, as malaria parasites destroy red blood cells of heterozygotes when entering them, providing an evolutionary advantage in malaria-prone areas. The mutation causes a change in primary structure, affecting secondary and tertiary structure and the 3D shape and function of hemoglobin, reducing oxygen-carrying ability. 3. Mutations are mostly random, occurring more

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Chapter 19 Answers

1. Amorphic mutations result in the loss of a functional protein due to changes in the gene or allele that codes for an enzyme, preventing it from catalyzing reactions and acting as a recessive allele. 2. In sickle-cell anemia, heterozygotes have one normal and one mutant hemoglobin allele and are generally healthy except in low oxygen conditions, as malaria parasites destroy red blood cells of heterozygotes when entering them, providing an evolutionary advantage in malaria-prone areas. The mutation causes a change in primary structure, affecting secondary and tertiary structure and the 3D shape and function of hemoglobin, reducing oxygen-carrying ability. 3. Mutations are mostly random, occurring more

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daniel
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OCR A Biology

19.1

Effects of mutation
1 Amorphic mutation results in loss of functional protein (1); gene/allele, codes for enzyme (1);
enzyme no longer catalyses reaction (1); so recessive allele (1)

Sickle-cell anaemia
1 Heterozygotes have one normal and one mutant allele (for haemoglobin) (1); normally healthy (1);
except in low oxygen concentrations (1); part of malarial parasite life cycle is in red blood cells (1); red
blood cells of heterozygotes are, sickled/destroyed, when parasites enter (1); infection reduced (1);
idea that being heterozygous is a clear advantage in an area where malaria is present and a
disadvantage in an area where malaria is absent (1).
2 Change in primary structure (1); change in secondary and tertiary structure (1); change in 3D shape
(1); change in function (1); reduced oxygen carrying ability (1).

Summary questions
1 Ability to digest lactose is a beneficial characteristic (1); drinking milk prevented starvation (1);
reduced osteoporosis (1); directional selection (1).
2 Mutation is random (1); majority of DNA is non-coding; mutations more likely to occur in non-coding
regions (1); mutations in non-coding regions do not affect phenotype (1);
3 Majority of mutations are silent (1); idea that random change to protein structure is more likely to
reduce function (1); idea that beneficial mutations increase chances of survival if environment
changes (1); surviving organisms reproduce and pass new alleles to offspring (1); leading to evolution
(1).

19.2
1a enzyme coded for by lac operon enables lactose to enter bacteria (1); lactose binds to repressor
protein; (repressor) protein changes shape (1); transcription no longer blocked (1); enzymes needed
to metabolise lactose are synthesised (1) (3 max).
b β-galactosidase catalyses the hydrolysis of lactose (1); to galactose and lactose (1); lactose
permease enables the entry of lactose into cells (1).
2 Tryptophan binds to repressor protein (1); shape of repressor protein changes (1); repressor protein
binds to promoter (1); blocks RNA polymerase from binding (1); transcription prevented (1); of genes
coding for enzymes responsible for tryptophan synthesis (1) (5 max).
3 Cofactors bind to proteins that regulate transcription (1); changes binding of proteins to control
elements (1); rate of transcription changed (1); RNA polymerase activated (1).

19.3
Ontology doesn’t mimic phylogeny
Hox genes regulate the expression of other genes (1); increased transcription of genes responsible
for tumour development (1); decreased expression of tumour suppressor genes (1).

Summary questions
1 Bilateral symmetry is along (single plane through) central axis (1); e.g., two arms, two legs (1); radial
symmetry is along a plane at any angle through central axis (1); e.g., tentacles around central axis
(1).
2 Isolate (Pax6) gene from one species (1); detail e.g., PCR, restriction enzymes (1); test in different,
tissue/species (1); example of positive result e.g., eyes develop on legs (1); switch gene off early in
development and eyes will not develop (1); DNA sequencing and compare genes from different
species (1) (max 5).
3 Statement is valid (1); Hox genes are one form of homeobox gene (1); present in vertebrates (1); in
Hox clusters (1); other forms of homeobox gene present in other clusters (1).

© Oxford University Press 2016 This resource sheet may have been changed from the original.

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