[5] GENETIC BASIS FOR VARIATION
a) Explain the terms locus, allele, dominant, recessive , codominant, homozygous, heterozygous, phenotype
and genotype
• Locus-This refers to the gene loc i.e. where the gene is found on a chromosome.
• Allele-This is an alternative form of a gene.
• Dominant-This refers to an allele whose effect will be expressed in the phenotype even in the
presence of an alternative allele.
• Recessive-This refers to an allele whose effect will be masked in the presence of an alternative
allele.
• Codominant-This refers to a situation whereby both alleles of a gene exert an equal effect on the
phenotype of an organism
• Homozygous-This refers to the situation whereby both alleles at a gene locus are the same.
• Heterozygous-This refers to the situation whereby there are different alleles at a gene locus.
• Phenotype-This refers to the physical appearance of the organism.
• Genotype-This refers to the genetic makeup of an organism.
b) Explain how genotype is linked to phenotype and how genes are inherited from one generation to the next
via germ cells or gametes.
A gene is a length of DNA that codes for proteins such as enzymes, transmembrane proteins, receptors
and regulatory proteins. These are the proteins that in their many functions determine the phenotype of
an organism.
-Dominant allele-normally codes for functioning protein
-Recessive allele-codes for non-functional protein
Genes are found on chromosomes and for a diploid organism, at every gene loci, there are two alleles.
These two alleles may or may not be identical.
Thus, during interphase before meiosis, there will be semi-conservative DNA replication to form an
additional copy of each of the alleles. Thereafter, after meiosis, gametes formed will be haploid (contain
half the set of chromosomes of a normal somatic cell)
Thereafter, in random fertilization, when a gamete carrying allele fuses with another gamete, a zygote will
be formed with diploid state restored. This zygote which contains the alleles from its parents (half from
maternal, half from paternal), will then undergo mitosis to form a whole new organism.
Various mechanisms such as random assortment of chromosomes and crossing over during Prophase 1
allows for new combinations of alleles and thus traits that differ from their parents
Thus, genes are transferred in this way from one generation to another.
c) Explain with examples how the environment may affect the phenotype.
• Environment will mostly affect the phenotype of additive genes. E.g. Height. For example, if a
child has many additive genes that collectively determine that his height is 1.8m for example,
then, if he does not receive sufficient nutrition when young (environment), he will likely grow to
be shorter that the height determined by the genes.
• Generally such effects of environment on phenotype cannot be inherited.
For e.g., a mouse may have its tail cut by a sharp object (environment). But, it is unlikely that the
offspring of this mouse will also have a short tail. This is because the short tail is not determined
by genes and cannot be inherited.
d) Use genetic diagrams to solve problems in dihybrid crosses, including those involving sex linkages,
codominance and multiple alleles (involving autosomal linkage or epistasis)
• Dihybrid-Involving two genes
• Sex linkage-gene found on a sex chromosome, e.g. gene found on X chromosome
• Multiple alleles-gene has more than two alleles. E.g. blood group
• Autosomal linkage-genes found on the same chromosome (not sex chromosome)
• Epistasis-Two genes control one phenotype. One gene mask effect of another.
Steps in constructing genetic diagram:
1. State parents Phenotype
2. State parents Genotype
3. Show gametes formed. (Remember circles)
4. Do cross (can use Punnett square)
5. Show F1 generation genotypes
6. Key (at side)
7. Phenotypes of F1
8. Phenotype ratio
e) Use genetic diagrams to solve problems involving test cross.
• Cross between individual with unknown genotype and another homozygous recessive individual
f) Explain the meanings of the terms linkage and crossing over and explain the effect of linkage and crossing
over on phenotypic ratios
• Linkage-genes are found on the same chromosome
• Crossing over-involves formation of chiasmata between non-sister chromatids of homologous
chromosomes. It is the exchange of parental alleles to produce recombinant chromatids
• Linkage-Characteristic in offspring of heterozygotes, in offspring, there will be a dominance of
parental phenotypes
g) Explain with examples, what is meant by the terms gene mutation and chromosome aberration.
• Gene mutation refers to a chemical change in a base. Involves insertion, deletion, substitution
and inversion. E.g. Single base substitution of adenine for thymine in Sickle Cell Anaemia
• Chromosome aberration-Changes in chromosome number and structure. Affects many gene loci.
Involves Translocation, duplication, inversion and deletion. E.g. Down’s Syndrome
h) Describe the differences between continuous and discontinuous variation and explain the genetic basis of
continuous (many, additive, genes control a characteristic) and discontinuous variation (one or few genes
control a characteristic)
Features Continuous Discontinuous
Phenotype Range from one extreme to another Falls into distinct classes with no
intermediates
Genes Many, additive genes (polygenic trait) One or few major genes
Effect of environment Yes No
Method of By measuring e,g. mean, standard By counting, recognition of different
measurement deviation qualities
Type of inheritance Qualitative Quantitative
Examples Height Blood group
i) Describe the causes of genetic variation in a population.
Genetic
• Gene mutation-source of all new alleles
• Chromosome Aberration, E.g. non-disjunction
• Gene shuffling
-at meiosis via random assortment of homologous chromosomes
-Crossing over forming new linkage groups
-effective in producing offspring of heterozygous parents
• Interaction between genes at one locus and between loci
• Random fertilization of gametes
Environment
• Space and nutrients of development
• Source of mutagens
j) Describe the interaction between gene loci (Epistasis) and predict phenotypic rations in problems involving
Epistasis.
Epistasis-two genes control one characteristic. One gene mask or modify phenotypic expression of
another. Does not increase the number of phenotypic classes
***REMEMBER CERTAIN KEY PHENOTYPE RATIOS!
Normal dihybrid cross 9:3:3:1
between heterozygotes
Dominant Epistasis 12:3:1
Recessive epistasis 9:3:4
Complementary gene 9: 7
action (genes in a
pathway)
Duplicate genes (genes 15:1
give the same
phenotype)
k) Use the chi square test to test the significance of differences observed between observed and expected.
Step 1: State Null hypothesis
Step 2: Do chi square test using formula or GC
Step 3: Check the chi square value against table of values
Step 4: Determine degrees of freedom (number of phenotypic classes minus 1)
Step 5: Conclusion, if Observed chi square value is larger than theoretical, null hypothesis rejected. There
is a significant difference between observed and expected results.(and vice versa)
