What is meant by the term genotype?
Genetic constitution of an organism
What is meant by the term phenotype?
The expression of this genetic constitution (genotype) and its interaction with the environment
What are alleles and how do they arise?
Variations of a particular gene (same locus) → arise by mutation (changes in DNA base sequence)
How many alleles of a gene can be found in diploid organisms?
• 2 as diploid organisms have 2 sets of chromosomes (chromosomes are found in homologous pairs)
- But there may be many (more than 2) alleles of a single gene in a population
Describe a dominant allele
Always expressed (shown in the phenotype)
Describe a recessive allele
Only expressed when 2 copies present (homozygous recessive) / NOT expressed when dominant allele present (heterozygous)
Describe a codominant allele
Both alleles expressed / contribute to phenotype (if inherited together)
What is meant by the terms homozygous and heterozygous?
• Homozygous - Alleles at a specific locus (on each homologous chromosome) are the same
• Heterozygous - Alleles at a specific locus (on each homologous chromosome) are different
What do monohybrid and dihybrid crosses show?
• Monohybrid cross - inheritance of one phenotypic characteristic coded for by a single gene
• Dihybrid cross - inheritance of two phenotypic characteristics coded for by two different genes
Monohybrid cross (basic)
The dominant allele for the grey gene (G) in horses results in a coat colour turning progressively grey.
The recessive allele (g) results in the normal coat colour being maintained (non-grey phenotype).
A non-grey female is crossed with a heterozygous male.
Draw a genetic diagram to show the expected ratio of phenotypes in the offspring.
Parental phenotypes: Non-grey, Grey
Parental genotypes: gg, Gg
Parental gametes: g and g, G and g
Offspring genotypes and phenotypes:
Gg = Grey
gg = Non-grey
Ratio: 1:1
Monohybrid cross with multiple alleles
In one snail species, shell colour is controlled by a gene with 3 alleles. The shell may be brown, pink or yellow. The allele for brown (C^B) is dominant to the other two alleles. The allele for pink (C^P) is dominant to the allele for yellow (C^Y).
A cross between two pink-shelled snails produced only pink-shelled and yellow-shelled snails.
Use a genetic diagram to explain why.
Parental phenotypes: Pink-shelled, Pink-shelled
Parental genotypes: CᴾCʸ, CᴾCʸ
Parental gametes: Cᴾ and Cʸ, Cᴾ and Cʸ
Offspring genotypes and phenotypes:
CᴾCᴾ, CᴾCʸ = Pink-shelled
CʸCʸ = Yellow-shelled
Ratio: 3:1
Monohybrid cross with codominance and multiple alleles
The inheritance of the ABO blood groups in humans is controlled by three alleles of a single gene, Iᴬ, Iᴮ and Iᴼ. The alleles Iᴬ and Iᴮ are codominant, and the allele Iᴼ is recessive to Iᴬ and recessive to Iᴮ.
Two heterozygous parents plan to have a child. One has blood group A and the other has blood group B.
Use a genetic diagram to show all the possible genotypes and the ratio of phenotypes expected in their offspring.
Parental phenotypes: Blood group A, Blood group B
Parental genotypes: IᴬIᴼ, IᴮIᴼ
Parental gametes: Iᴬ and Iᴼ, Iᴮ and Iᴼ
Offspring genotypes and phenotypes:
IᴬIᴮ = AB
IᴬIᴼ = A
IᴮIᴼ = B
IᴼIᴼ= O
Ratio: 1:1:1:1
Explain the evidence from a pedigree diagram which would show that the allele for [named phenotype] is dominant
• [Named phenotype] parents [n & n] have child [n] WITHOUT [named phenotype]
• So both parents [n & n] must be heterozygous / carriers of recessive allele
- If it were recessive, all offspring would have [named phenotype]
Explain the evidence from a pedigree diagram which would show that the allele for [named phenotype] is recessive
• Parents [n & n] WITHOUT [named phenotype] have child [n] WITH [named phenotype]
• So both parents [n & n] must be heterozygous / carriers of recessive allele
Dihybrid cross (basic)
In fruit flies, the allele for grey body (G) is dominant to the allele for ebony body (g) and the allele for normal wings (N) is dominant to the allele for vestigial wings (n). These genes are not linked.
Vestigial-winged flies, heterozygous for grey body colour, were crossed with ebony-bodied flies, heterozygous for normal wings.
Complete the genetic diagram to show all the possible genotypes and the ratio of phenotypes expected in the offspring of this cross.
Parental phenotypes: Grey body & vestigial wings, Ebony body & normal wings
Parental genotypes: Ggnn, ggNn
Parental gametes: Gn and gn, gN and gn
Offspring genotypes and phenotypes:
GgNn = Grey, normal
Ggnn = Grey, vestigial
ggNn = Ebony, normal
ggnn = Ebony, vestigial
Ratio: 1:1:1:1
Dihybrid cross with codominance
In a species of flowering plant, the T allele for tallness is dominant to the t allele for dwarfness. In the same species, two alleles Cᴿ (red) and Cᵂ (white) code for the colour of flowers.
When homozygous red-flowered plants were crossed with homozygous white-flowered plants, all the offspring had pink flowers. A dwarf, pink-flowered plant was crossed with a heterozygous tall, white-flowered plant.
Complete the genetic diagram to show all the possible genotypes and the ratio of phenotypes expected in the offspring of this cross.
Parental phenotypes: Dwarf & pink-flowered, Tall & white-flowered
Parental genotypes: ttCᴿCᵂ, TtCᵂCᵂ
Parental gametes: tCᴿ and tCᵂ, TCᵂ and tCᵂ
Offspring genotypes and phenotypes:
TtCᴿCᵂ = Tall pink
ttCᴿCᵂ = Dwarf pink
TtCᵂCᵂ = Tall white
ttCᵂCᵂ = Dwarf white
Ratio: 1:1:1:1
What is a sex-linked gene?
A gene with a locus on a sex-chromosome (normally X)
Explain why males are more likely to express a recessive X-linked allele
Monohybrid cross with sex-linkage
A single gene that’s carried on the X chromosome controls the presence of hair on the skin of cattle. Its dominant allele causes hair to be present and its recessive allele causes hairlessness.
A male and a female with hair have two female offspring with hair.
What is the probability that their next calf born is hairless?
Parental phenotypes: Female with hair, Male with hair
Parental genotypes: XᴴXʰ, XᴴY
Parental gametes: Xᴴ and Xʰ, Xᴴ and Y
Offspring genotypes and phenotypes:
XᴴXᴴ = Female with hair
XᴴXʰ = Female with hair
XᴴY = Male with hair
XʰY = Male hairless
Probability: 0.25
Monohybrid cross with sex-linkage and codominance
A gene on the X chromosome controls fur colour in cats. The allele G codes for ginger fur and the allele B codes for black fur.
These alleles are codominant.
Heterozygous females have patches of both so their phenotype is described as tortoiseshell.
A tortoiseshell female was crossed with a black male.
Use a genetic diagram to show all the possible genotypes and the ratio of phenotypes expected in the offspring of this cross.
Parental phenotypes: Tortoiseshell female, Black male
Parental genotypes: XᴳXᴮ, XᴮY
Parental gametes: Xᴳ and Xᴮ, Xᴮ and Y
Offspring genotypes and phenotypes:
XᴳXᴮ = Tortoiseshell female
XᴮXᴮ = Black female
XᴳY = Ginger male
XᴮY = Black male
Ratio: 1:1:1:1
Dihybrid cross with sex linkage
In fruit flies, a gene for body colour has a dominant allele for grey body (G) and a recessive allele for black body (g). A gene for eye colour has a dominant allele for red eyes (R) and a recessive allele for white eyes (r) and is located on the X chromosome.
A heterozygous grey-bodied, white-eyed female fly was crossed with a black-bodied, red-eyed male fly. Complete a genetic diagram to show all the possible genotypes and the ratio of phenotypes expected in the offspring from this cross.
Parental phenotypes: Grey-bodied & white-eyed female, Black-bodied & red-eyed male
Parental genotypes: GgXʳXʳ, ggXᴿY
Parental gametes: GXʳ and gXʳ, gXᴿ and gY
Offspring genotypes and phenotypes:
GgXᴿXʳ = Grey-bodied red-eyed female
ggXᴿXʳ = Black-bodied red-eyed female
GgXʳY = Grey-bodied white-eyed male
ggXʳY = Black-bodied white-eyed male
Ratio: 1:1:1:1
Explain the evidence from a pedigree diagram which would show that the allele for [named phenotype] on the X-chromosome is recessive
• Mother [n] WITHOUT [named phenotype] has child [n] WITH [named phenotype]
• So mother [n] must be heterozygous / carrier of recessive allele
Explain the evidence from a pedigree diagram which would suggest that [named recessive phenotype] is caused by a gene on the X chromosome
Only males tend to have [named recessive phenotype].
Explain the evidence from a pedigree diagram which would show that the gene for [named phenotype] is not on the X chromosome
If dominant
• [Named phenotype] father [n] has daughter [n] WITHOUT [named phenotype]
• Father [n] would pass on allele for [named phenotype] on X chromosome so daughter [n] would have [named phenotype]
OR
If recessive
• [Named phenotype] mother [n] has son [n] WITHOUT [named phenotype]
• Mother [n] would pass on allele for [named phenotype] on X chromosome so son [n] would have [named phenotype]