Explain the following terms:

Locus
Allele It is an alternative form of a gene occupying the same gene locus on homologous
chromosomes.
Dominant
Recessive
Co dominant In this, both alleles have an effect on the phenotype in the heterozygous state. The
new phenotype is thus different from that of the two homozygotes.
Homozygous
Heterozygous
Phenotype
Genotype

Distinguish between phenotype and genotype.
1. phenotype is the feature/characteristic;
2. results from interaction of genotype and environment on organism/
environment may alter the appearance of an organism;
3. genotype unaffected by environment;
4. genetic characteristics inherited/passed on to offspring/ora/represents alleles
possessed;

Phenotype is the feature(characteristic) of the organism that results from the interaction of genotype
and environment. Genotype is unaffected by environment and it represents the genetic characteristics
inherited (in other words the alleles possessed)
[er answer] Phenotype is the feature or characteristic resulting from the interaction of the genotype and
the environment. The genotype represents the genetic characteristics which are inherited and is not
affected by the environment.

Define gene.
Gene is a length of DNA, (or a sequence of bases) coding for a characteristic, a protein, or a polypeptide.

Define allele.
Allele is an alternative form of a gene occupying the same gene locus on homologous chromosomes.

Explain what is meant by codominance? (J07 Q:7a)
1. both alleles, influence phenotype / are expressed ;
2. ref. more than 2 phenotypes possible ;
3. phenotype of heterozygote different from either homozygote ;
In this, both alleles have an effect on the phenotype in the heterozygous state. The new phenotype is
thus different from that of the two homozygotes.


How genetic variation is achieved during meiosis? (J07 Q:6c )
1. independent assortment ;
2. homologous / maternal and paternal, chromosomes position themselves either way up / AW ;
3. on equator (of spindle) ;
4. so segregate randomly / any combination of maternal and paternal chromosomes can end up
5. in daughter cells ;
6. AVP ; e.g. occurs during metaphase 1

Or

1. crossing over / chiasmata ;
2. between, chromatids of homologous chromosomes / non-sister chromatids ;
3. genetic material on maternal and paternal chromosomes swap places / AW ;
4. leads to new combination of alleles ; R genes
5. AVP ; e.g. breaking established linkage groups / occurs during prophase 1

Crossing over between non-sister chromatids during prophase 1 by which the genetic material on
maternal and paternal chromosomes swap places hence leading to new combination of alleles.
Independent assortment: When the homologous chromosomes line up at the equator during
metaphase 1,chromosomes position themselves either way up so segregate randomly therefore
any combination of maternal and paternal chromosomes can end up in daughter cells. 2
n

possible combinations when n is number of chromosome pairs.
The gametes being haploid, as a result of meiosis, will fuse. When these genetically different
gametes fuse, randomly, at fertilization, yet more variation is produced.
Describe crossing over, and explain how this can lead to variation.

1. ref. (homologous chromosomes) pairing / synapsis ;
2. ref. to chiasma / crossing over ;
3. exchange of genetic material ;
4. between non-sister chromatids / AW ;
5. breakage of linkage groups / ref. new linkage groups ;
6. may have different alleles ;
7. creates new combinations of alleles ;
8. when sister chromatids separate ;

The homologous chromosomes pair up and the non-sister chromatids cross-over and theres an
exchange of genetic material. Each crossover is termed as chiasma. New linkage groups are made
1. crossing over/chiasmata;
2. between chromatids of homologous chromosomes/non-sister chromatids;
3. breaks up linkage groups/mixes alleles from parents; R genes
4. ref. to non-identical/genetically different gametes;


Explain how meiosis and fertilisation may result in genetic variation in offspring.

1. chiasma / crossing over ;
2. between non-sister chromatids ;
3. of, homologous chromosomes / bivalent ;
4. in prophase 1 ;
5. exchange of genetic material / AW ; R genes unqualified
6. linkage groups broken ;
7. new combination of alleles ;
8. independent assortment (of homologous chromosomes) ;
9. R random assortment
10. at equator ;
11. (during) metaphase 1 ;
12. possible mutation ;
13. random mating ;
14. random fusion / fertilisation of gametes ;
Explain, with examples, how mutation may affect the phenotype.(J06 Q:7 b)

1. gene) example ; (sickle cell / PKU )
2. change in gene / DNA / base change ;
3. different amino acid ;
4. different polypeptide / different protein / non-functional protein ;
5. AVP ; details
6. AVP ; details
7. (chromosome) example ; (Downs, Turners syndromes)
8. structural changes in chromosomes ;
9. change in number of chromosomes ;
10. change in sets of chromosomes / ref. polyploidy ;
11. AVP ; details
12. AVP ; details

A change in the structure of a DNA molecule, producing a different allele of a gene, is a gene mutation.
An example of this is Sickle Cell Anaemia. It is caused by a base substitution that has a significant effect
on the phenotype. The sixth position in the B chain where the base sequence is CTT which codes for
glutamic acid is replaced by CAT which codes for the amino acid Valine. Valine is hydrophobic in nature
unlike glutamic acid which is hydrophilic. When the abnormal haemoglobin is in areas of low oxygen
concentration, they stick together forming long fibres inside the red blood cells, pulling them into a sickle
shape.
Mutations may also cause a change in the structure or number of whole chromosomes in the cell, known
as chromosome mutation. An example of this is Downs Syndrome, in which during the division process
(meiosis), one of the ovumhas 24 chromosomes and the other 22. The one with 24 is viable and if
fertilized will form 47 chromosomes instead of 46. These children usually have lowered life expectancy
and mental retardation, etc.

Explain, with examples, how the environment may affect the phenotype. (N07 Q:11 b)

1. phenotypic variation results from interaction of genotype and environment / VP = VG
+ VE ;
2. environment may limit expression of gene(s) / AW ;
3. e.g. for size / mass / height ;
4. because, food / nutrients / ion, missing / malnutrition ;
5. named, nutrient / ion / mineral, missing ;
6. environment may, trigger / switch on, gene ;
7. ref. low temperature and change in animal colour ;
8. ref. high temperature and, curled wing in Drosophila / gender in crocodiles ;
9. ref. UV light and melanin production ;
10. ref. wavelength of light and, flowering / germination / fruit colour ;
11. other named trigger plus example ;
12. environment effect usually greater on polygenes / ora ;
13. environment may induce mutation affecting phenotype ;

Phenotypic variation results from the interaction of the genotype and the environment. Environment
may limit the expression of the genes in an individual. Consider human height. If the individual has the
number of alleles for tallness, he will have the potential to grow tall. However, if his diet is poor and the
required proteins, for example, are missing in his diet, he will not be able to grow tall. Environment may
trigger the genes, for example, hair colour in cats. They have many genes that influence their hair colour.
They do this by coding for the production of enzymes. For example, in a particular type of cat, they have
a gene that codes for the production of an enzyme which is sensitive to temperatures. It produces dark
hair in regions where the temperature is lower eg: paws, ears and tail, and light hair in warmer parts of
the body. Environment usually show greater effects on polygenes. Another example is the effect of UV
light on melanin production. Area where people are exposed to more sunlight, and hence UV have darker
complexion as the melanin production is higher in them.

Explain how a change in the nucleotide sequence in DNA may affect the amino acid sequence in a
protein and hence the phenotype of the organism. (J09 Q:9a)

1. code is three, bases / nucleotides ; A triplet code
2. (gene) mutation ; R chromosome mutation
3. base, substitution / addition / deletion ;
4. addition / deletion, large effect (on amino acid sequence) ;
5. frame shift ;
6. completely new code after mutation / alters every 3 base sequence which follows ;
7. (substitution) often has no effect / silent mutation ;
8. different triplet but same amino acid / new amino acid in non-functional part of protein ;
9. (substitution) may have big effect (on amino acid sequence) ;
10. could produce stop codon ;
11. sickle cell anaemia / PKU / cystic fibrosis ;
12. reference to transcription or translation in correct context ; A description
13. AVP ; e.g. protein produced, is non-functional / not produced / incomplete

A triplet of bases is what which codes for an amino acid. Gene mutation may alter this code by a base
addition or deletion and even by a base substitution. Base addition or deletions have large effects as they
cause a frame shift, because they alter each 3 base sequence which follows and hence a completely new
code after mutation. Substitution, on the other hand, often has no effect and its often called the silent
mutation. This is because there are more than one triplets coding for the same amino acid, so even after
substitution, if it codes for the same amino acid, it wont have any effect. Though at times, it does
produces big effects. For example, if it produces a stop codon, the polypeptide would never be completely
formed. Similarly, it may result in a different amino acid, for example, in the case of sickle cell anaemia, a
substitution results in the amino acid valine at the sixth position in the B chain instead of Glutamic acid.