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Genetics and evolution · Genetics and inheritance

Dominance and recessiveness

Gregor Mendel, an Augustinian monk, crossed thousands of pea plants in his monastery garden, patiently counting how many plants of each type he obtained in every generation. From those numbers came laws that, a century and a half later, still explain why two brown-eyed parents can have a blue-eyed child. Orla has brown eyes, as do both her parents, but her brother Cian has blue eyes. How is that possible?

Gene, allele, genotype and phenotype

In a litter of rabbits born to black parents on a farm in Co. Kilkenny, some young may have white fur, while in other crosses all the offspring are identical to their parents. Where is that information physically stored, and how can a trait be passed on when the parents do not show it?

Pair of homologous chromosomes, one maternal and one paternal, with the same banding pattern; at the same gene locus, the maternal one carries allele A and the paternal one carries allele a, so the genotype is Aa. gene locus allele A allele a maternal chromosome paternal chromosome pair of homologous chromosomes · genotype Aa
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Define the terms gene, allele, genotype and phenotype, and provide a simple example relating them (for instance, flower colour).

Define the terms gene, allele, genotype and phenotype, and provide a simple example relating them (for instance, flower colour).

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Explain what it means for an allele to be dominant and for an allele to be recessive. Can a recessive trait be expressed in a heterozygous individual? Reason your answer.

Explain what it means for an allele to be dominant and for an allele to be recessive. Can a recessive trait be expressed in a heterozygous individual? Reason your answer.

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Dominance, homozygosity and heterozygosity

Three plants with their pairs of homologous chromosomes: AA and Aa have a flower with the dominant phenotype (purple) and aa has a flower with the recessive phenotype (pale); AA and Aa share the phenotype but not the genotype. AA homozygous A A dominant Aa heterozygous A a dominant aa homozygous a a recessive AA and Aa: same phenotype, different genotype
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Explain the difference between homozygous and heterozygous, and state which of the two can produce two different types of gametes for that trait and which produces only…

Explain the difference between homozygous and heterozygous, and state which of the two can produce two different types of gametes for that trait and which produces only one.

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For a gene with two alleles, A and a, state which gametes an AA individual produces, which ones an Aa individual produces and which ones an aa individual produces. How…

For a gene with two alleles, A and a, state which gametes an AA individual produces, which ones an Aa individual produces and which ones an aa individual produces. How many different types of gametes does each one form?

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A mouse shows the recessive phenotype for coat colour. What is its genotype with complete certainty? And if it showed the dominant phenotype? Explain why in one case we…

A mouse shows the recessive phenotype for coat colour. What is its genotype with complete certainty? And if it showed the dominant phenotype? Explain why in one case we know it for sure and in the other we do not.

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Mendel's laws: uniformity and segregation

Mendel crossed pure-breeding yellow peas with pure-breeding green peas and obtained an F1 with $100\,\%$ yellow seeds; when he crossed those plants with each other, he counted 6,022 yellow and 2,001 green (a $75\,\%$ to $25\,\%$ split). How did the green colour reappear intact after having disappeared completely in the previous generation?

The widget above shows the cross AA × aa.

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Mendel crossed a pure-breeding yellow-seeded pea plant (AA) with a green-seeded one (aa). State the genotype and the phenotype of the whole first generation (F1) and…

Mendel crossed a pure-breeding yellow-seeded pea plant (AA) with a green-seeded one (aa). State the genotype and the phenotype of the whole first generation (F1) and state in your own words Mendel's first law, or law of uniformity.

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The diagram shows a Punnett square for a cross between two heterozygous individuals (Aa × Aa). Complete the missing cell and, assuming allele A (dark colour) is dominant…

The diagram shows a Punnett square for a cross between two heterozygous individuals (Aa × Aa). Complete the missing cell and, assuming allele A (dark colour) is dominant over a (light colour), state the genotypic and phenotypic ratios of the offspring.

A a A a AA Aa Aa ?
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A homozygous dominant plant (AA) is crossed with a heterozygous one (Aa). Draw the corresponding Punnett square and state the genotypic and phenotypic ratios of the…

A homozygous dominant plant (AA) is crossed with a heterozygous one (Aa). Draw the corresponding Punnett square and state the genotypic and phenotypic ratios of the offspring.

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In pea plants, the allele for yellow colour (A) is dominant over green colour (a). Cross two heterozygous plants and state the expected genotypic and phenotypic ratios…

In pea plants, the allele for yellow colour (A) is dominant over green colour (a). Cross two heterozygous plants and state the expected genotypic and phenotypic ratios in the offspring.

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The F1 plants from the cross between pure yellow and green peas are all yellow and heterozygous. If the F1 plants are allowed to self-pollinate, calculate the genotypic…

The F1 plants from the cross between pure yellow and green peas are all yellow and heterozygous. If the F1 plants are allowed to self-pollinate, calculate the genotypic and phenotypic ratios of the F2 and state Mendel's second law, or law of segregation.

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In a certain plant, the purple-flower allele (P) is dominant over the white-flower allele (p). A gardener crosses two plants and all the offspring have purple flowers.…

In a certain plant, the purple-flower allele (P) is dominant over the white-flower allele (p). A gardener crosses two plants and all the offspring have purple flowers. State two combinations of parental genotypes that would make this result possible and one that would make it impossible.

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Probability in genetics and the test cross

A couple who are carriers of a recessive disease have a first child with the disease and fear trying for a second pregnancy, thinking the risk will be higher now that there has already been one case. Does what happened in one pregnancy affect the next, or does each child start from scratch?

4 × 4 grid with the 16 equally likely combinations of the genotypes of two children of an Aa × Aa couple; only one, aa in both, corresponds to 1/4 × 1/4 = 1/16. 2nd child 1st child AA Aa aA aa AA Aa aA aa aa, aa P(aa) = 1/4 P(aa) = 1/4 P(both aa) = 1/4 × 1/4 = 1/16 16 equally likely combinations

The ratios from a Punnett square are probabilities, not guarantees. In a small sample, such as a litter of eight, the actual numbers (for example 6 : 2) can differ from the expected 3 : 1 just by chance. The larger the sample, the closer the results come to the expected ratio.

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In rabbits, black fur ($N$) is dominant over white fur ($n$). A breeder crosses a black male of unknown genotype with a white female to perform a test cross. A litter of…

In rabbits, black fur ($N$) is dominant over white fur ($n$). A breeder crosses a black male of unknown genotype with a white female to perform a test cross. A litter of 6 kits is born, all with black fur. The breeder concludes: "It is 100% proven that the male is homozygous ($NN$), because if he were heterozygous, white rabbits would have been born".

  1. a) Refute the breeder's conclusion by calculating the probability that a litter of 6 kits is entirely black even if the father is heterozygous ($Nn$).
  2. b) Explain what minimum outcome in the litter would have been sufficient to determine the male's genotype beyond any doubt, and justify why.
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Albinism is an autosomal recessive condition ($a$) compared to normal pigmentation ($A$). A couple in which both have normal pigmentation have a firstborn child with…

Albinism is an autosomal recessive condition ($a$) compared to normal pigmentation ($A$). A couple in which both have normal pigmentation have a firstborn child with albinism. Facing a new pregnancy, the father-to-be comments: "Since the probability of albinism is 1 in 4 and the first child was already born with albinism, the next three will definitely be born with normal pigmentation."

  1. a) Refute the father's statement by calculating the actual probability that the second child is born with albinism and the probability that the next three are all born with normal pigmentation.
  2. b) If a daughter with normal pigmentation is eventually born, calculate with justification the probability that she is a carrier of the albinism allele.
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Cystic fibrosis is a severe autosomal recessive hereditary disease ($a$). A healthy couple visits a genetic counselling clinic after discovering that both are…

Cystic fibrosis is a severe autosomal recessive hereditary disease ($a$). A healthy couple visits a genetic counselling clinic after discovering that both are heterozygous carriers ($Aa$). They wish to have two children.

  1. a) Reasonably calculate the probability that at least one of the two children is born affected by the disease, and compare it with the probability that both are born healthy.
  2. b) After their first child is born completely healthy, they say with relief: "Since the first one was spared, the risk for the second one is lower." Refute their belief by explaining what the actual genetic risk is for the second child, and calculate the probability that this first healthy child is a carrier of the causative allele.
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Two healthy parents have three children: a healthy son, a healthy daughter, and another daughter affected by an autosomal recessive metabolic disease. Years later, the…

Two healthy parents have three children: a healthy son, a healthy daughter, and another daughter affected by an autosomal recessive metabolic disease. Years later, the healthy son plans to have children with a healthy woman whose family has no history of the disease (so she is assumed to be homozygous healthy).

  1. a) Deduce the genotypes of the parents and the affected daughter, and justify why the probability that the healthy brother is a carrier is 2/3 and not 1/2.
  2. b) Calculate the final probability that a future child of this new couple will be a carrier of the recessive disease allele. Justify the steps of your probabilistic deduction.
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In dogs, black coat (N) is dominant over brown coat (n). A heterozygous male is crossed with a brown-coated female. Calculate the probability that a puppy will have a…

In dogs, black coat (N) is dominant over brown coat (n). A heterozygous male is crossed with a brown-coated female. Calculate the probability that a puppy will have a brown coat.

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A couple, both with the dominant phenotype for a trait, have a child with the recessive phenotype. Deduce the genotypes of the parents and explain how it is possible for…

A couple, both with the dominant phenotype for a trait, have a child with the recessive phenotype. Deduce the genotypes of the parents and explain how it is possible for the child to display a trait that neither parent shows.

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In mice, grey coat (G) is dominant over white (g). Two grey mice are crossed and in the litter, of eight pups, two are white. Deduce the genotypes of the parents and…

In mice, grey coat (G) is dominant over white (g). Two grey mice are crossed and in the litter, of eight pups, two are white. Deduce the genotypes of the parents and explain whether the actual litter ratio (6 grey and 2 white) fits the expected theoretical ratio.

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In tomatoes, red fruit (R) is dominant over yellow (r). Cross a heterozygous plant with a yellow-fruited plant and state the genotypic and phenotypic ratios of the…

In tomatoes, red fruit (R) is dominant over yellow (r). Cross a heterozygous plant with a yellow-fruited plant and state the genotypic and phenotypic ratios of the offspring. What is this type of cross called?

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A plant with the dominant phenotype is crossed with one with the recessive phenotype, and the offspring consists of half dominant-phenotype plants and half…

A plant with the dominant phenotype is crossed with one with the recessive phenotype, and the offspring consists of half dominant-phenotype plants and half recessive-phenotype plants. Deduce the genotype of the dominant-phenotype plant and reason your answer with the Punnett square.

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Dihybrid inheritance and Mendel's third law

Diagram of an AaLl × AaLl dihybrid cross: the 3:1 ratios of each gene (colour and texture) combine at random and give the 9:3:3:1 phenotype ratio in the offspring. AaLl × AaLl (two independent genes) colour gene 3 yellow : 1 green texture gene 3 smooth : 1 wrinkled combine at random 9 yellow-smooth : 3 yellow-wrinkled : 3 green-smooth : 1 green-wrinkled ratio 9 : 3 : 3 : 1
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In peas, yellow color ($A$) is dominant over green ($a$), and smooth texture ($L$) is dominant over wrinkled ($l$). After self-fertilizing dihybrid plants ($AaLl$), a…

In peas, yellow color ($A$) is dominant over green ($a$), and smooth texture ($L$) is dominant over wrinkled ($l$). After self-fertilizing dihybrid plants ($AaLl$), a farmer selects only plants with green, smooth seeds for commercial cultivation, but needs to ensure they are true-breeding ($aaLL$) so that wrinkled seeds do not appear in subsequent harvests.

  1. a) Design a cross that allows this farmer to find out whether a green, smooth plant is homozygous or heterozygous for texture, indicating the genotype and phenotype of the plant used as a mate.
  2. b) Predict with reasoning the phenotypic percentages that would be obtained in the offspring according to each of the possible genotypes, and conclude which outcome would confirm that the plant is true-breeding.
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In pea plants, the allele for yellow colour ($A$) is dominant over green ($a$), and the allele for round texture ($L$) is dominant over wrinkled ($l$). At an…

In pea plants, the allele for yellow colour ($A$) is dominant over green ($a$), and the allele for round texture ($L$) is dominant over wrinkled ($l$). At an agricultural station, a plant with a dominant phenotype (yellow, round seeds) is crossed with a plant with a double recessive phenotype (green, wrinkled seeds). The offspring consists of exactly 248 plants with yellow, round seeds and 252 plants with green, round seeds, with no plants with wrinkled seeds appearing.

  1. a) Reasonably deduce the complete genotype of the parent plant with yellow, round seeds.
  2. b) If two plants from the offspring that are green and round are crossed with each other, predict the expected genotypes and phenotypic ratios in the new offspring, justifying your answer with the corresponding cross.
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Two pure-breeding pea lines are crossed: one with yellow, round seeds ($AALL$) and another with green, wrinkled seeds ($aall$). All resulting F1 plants have yellow,…

Two pure-breeding pea lines are crossed: one with yellow, round seeds ($AALL$) and another with green, wrinkled seeds ($aall$). All resulting F1 plants have yellow, round seeds. Next, the F1 is self-pollinated, yielding 800 plants in the F2.

  1. a) Among the F2 plants with yellow, round seeds, a student claims that half of them have exactly the same genotype as the F1 ($AaLl$). Demonstrate through genetic analysis whether their claim is correct or erroneous by calculating the fraction and the exact number of dihybrid plants within that phenotype.
  2. b) How many of the 800 F2 plants are expected to be homozygous for both traits at the same time? State which phenotypes they will display and in what amounts.
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In the tomato plant, tall stem ($A$) is dominant over dwarf stem ($a$), and red fruit ($R$) is dominant over yellow fruit ($r$). A team crosses two dihybrid plants…

In the tomato plant, tall stem ($A$) is dominant over dwarf stem ($a$), and red fruit ($R$) is dominant over yellow fruit ($r$). A team crosses two dihybrid plants ($AaRr \times AaRr$) and obtains 160 offspring with the following counts: 92 tall with red fruit, 28 tall with yellow fruit, 31 dwarf with red fruit, and 9 dwarf with yellow fruit.

  1. a) Interpret these results by comparing them with the exact theoretical counts that Mendel's third law would predict for a sample of 160 individuals.
  2. b) One of the 92 plants with tall stems and red fruit is selected at random. Design a cross that allows you to confirm whether this plant is heterozygous for both genes ($AaRr$), stating which phenotype and genotype you should cross it with, and which phenotypic ratios you would expect if the hypothesis were correct.
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Back to the beginning: two brown-eyed parents can have a blue-eyed child if both are heterozygous ($Aa$): each contributes the recessive allele $a$ in their gamete and there is a $25\,\%$ probability ($1/4$) that the child is homozygous recessive ($aa$).

Summary

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