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Secondary 4 · Biology
Genetics and evolution · Genetics and inheritance

Dominance and Recessiveness

Gregor Mendel crossed thousands of pea plants over many years, patiently counting how many plants of each type he got in every generation. From those numbers came three laws that still explain, more than a century and a half later, why two plants with yellow seeds can have an offspring with green seeds.

Gene, Allele, Genotype, and Phenotype

In a litter of rabbits born to black parents, a white baby may appear, while in other crosses all the offspring look just like 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; 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 homologous pair · genotype Aa
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Define the terms gene, allele, genotype and phenotype, and provide a simple example relating them (for instance, flower color).

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

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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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Dominance, Homozygosity, and Heterozygosity

Three plants: AA and Aa have a flower with the dominant phenotype (purple) and aa has a flower with the recessive phenotype (light); AA and Aa share a phenotype but not a genotype. AA homozygous dominant Aa heterozygous dominant aa homozygous recessive AA and Aa: same phenotype, different genotype
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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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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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A mouse shows the recessive phenotype for coat color. 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 color. 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 First Law and the Punnett Square

Mendel crossed pure-line pea plants with yellow seeds with pure-line pea plants with green seeds. What color would the offspring be? All of them came out yellow. And the green? It seemed to have disappeared.

To predict the results of a cross we use the Punnett square: the gametes of one parent are written in the columns and those of the other in the rows, and each box is a possible offspring. We call P the parental generation, F₁ the first generation of offspring, and F₂ the second.

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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 color) 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 color) is dominant over a (light color), state the genotypic and phenotypic ratios of the offspring.

A a A a AA 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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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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Mendel's Second Law: Segregation

When Mendel crossed those yellow F₁ plants with each other, he counted 6,022 yellow and 2,001 green (75% versus 25%). How did the green color reappear intact?

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

In pea plants, the allele for yellow color (A) is dominant over green color (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 mice, gray coat (G) is dominant over white (g). Two gray mice are crossed and in the litter, of eight pups, two are white. Deduce the genotypes of the parents and…

In mice, gray coat (G) is dominant over white (g). Two gray 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 gray and 2 white) fits the expected theoretical ratio.

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Deducing Genotypes from the Offspring

Sometimes the cross is not known and you have to reason backward: you see the offspring and must figure out what the parents were like.

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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 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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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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The Test Cross

A plant with the dominant phenotype can be AA or Aa. How can you tell which one it is without cutting it open or analyzing its DNA?

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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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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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Probability in Genetics

A couple who are carriers of a recessive disease have a first child with the disease and fear a second pregnancy, thinking the risk is now higher. Does one pregnancy affect the next?

Square divided into four parts for each child: the strip of the first aa child takes up 1/4 and, within it, the second aa child takes up 1/4 again, giving 1/16 of the total. Aa × Aa couple: each child is aa with probability 1/4 1st child not aa: 3/4 1st child aa: 1/4 rest 2nd aa P(both aa) = 1/4 × 1/4 = 1/16 the second child is aa again with 1/4, regardless of the first
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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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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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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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Dihybrid Inheritance and Mendel's Third Law

So far we have followed a single trait. What happens if we follow two at once, such as the color and the texture of the seed?

A dihybrid AaLl produces four types of gametes in equal proportion: AL, Al, aL, and al. That is why the Punnett square of a dihybrid cross is 4 × 4 (16 boxes).

Diagram of a dihybrid cross AaLl × AaLl: the 3:1 ratios of each gene (color and texture) combine at random and give the 9:3:3:1 phenotype ratio. AaLl × AaLl (two independent genes) color 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 9 : 3 : 3 : 1 ratio

Comparing Observed with Expected

In practice, real counts never come out exact: chance makes them deviate a little from the theoretical ratio. To compare, follow these steps:

  1. Calculate the expected number of each phenotype: multiply the total number of offspring by its theoretical fraction (9/16, 3/16, 3/16, 1/16).

  2. Write the observed number next to it and look at the difference in each class.

  3. Also compare the proportions: divide each observed number by the total and compare with 56.25%, 18.75%, 18.75%, and 6.25%.

  4. If the differences are small and follow no pattern (some classes a little above, others a little below), the data fit the law. If one class is far off and consistently so, suspect another cause, such as linked genes.

Why? Each offspring is a chance event, like flipping a coin: with few flips it is normal not to get exactly half. With large samples, the results come closer to what is expected.

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In pea plants, the allele for yellow color ($A$) is dominant over green ($a$), and the allele for round texture ($L$) is dominant over wrinkled ($l$). At an agricultural…

In pea plants, the allele for yellow color ($A$) 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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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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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 pea plants with yellow seeds can have an offspring with green seeds if both are heterozygous ($Aa$): each one can contribute the recessive allele $a$, and there is a 25% probability ($1/4$) that the offspring is $aa$.

Summary

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