Biology · IGCSE 0610 · §17.4

Monohybrid Inheritance

Genotype and phenotype, dominant and recessive alleles, genetic diagrams, pedigrees, and inheritance beyond simple dominance. Part B of Chapter 17.

Biology · 0610 Topic 20 of 24

Genotype and Phenotype

Monohybrid inheritancePart B: crosses of one geneTermsGenotype, phenotype,dominant, recessiveCrossesPunnett squares,3 : 1 and 1 : 1PedigreesReading familytreesBeyond (EXT)Test cross, ABO,sex linkagetogetherGenetic diagrams predict the results of crosses;pedigrees show how a characteristic is inheritedinheritance from generation to generation
FIG 17.0 How the chapter connects: The alleles an organism has make up its genotype, and the features that result are its phenotype. Genetic diagrams predict the results of crosses, and pedigrees show how a feature is inherited.

Inheritance is the transmission of genetic information from generation to generation. The genotype of an organism is its genetic make-up, described in terms of the alleles present. The phenotype is its observable features.

Definition
Genotype
The genetic make-up of an organism, in terms of the alleles present.
Definition
Phenotype
The observable features of an organism.
phenotypes: tall and dwarfTTTtTtttPunnett squarepedigree diagram
FIG 17.18 Two phenotypes, a Punnett square, and a pedigree diagram.
Ttone chromosomeits partnergene for height:two alleles, T and tgenotype: Tt
FIG 17.11 The genotype Tt: two different alleles of the gene for height, one on each chromosome.

In pea plants, one gene controls height. The allele T gives tall plants and the allele t gives dwarf plants. The alleles an individual has are its genotype; whether it is tall or dwarf is its phenotype.

TermExample
GenotypeTT, Tt or tt
PhenotypeTall or dwarf

Worked example (genotype and phenotype): A pea plant has the alleles Tt and is tall. State its genotype and its phenotype. Step 1. The genotype is the alleles present: Tt. Step 2. The phenotype is the observable feature: tall. Answer: genotype Tt; phenotype tall.

Worked example (linking genotype to phenotype): A pea plant has the genotype tt. State its phenotype and explain your answer. Step 1. The only alleles present are t, the recessive allele. Step 2. A recessive allele is only expressed when no dominant allele is present, so the plant is dwarf. Answer: dwarf.

Examiner note
Genotype is the alleles (for example Tt). Phenotype is what you can see (for example tall).
Why this matters
You need both terms to write a genetic diagram.

Dominant and Recessive Alleles

A dominant allele is expressed if it is present in the genotype. A recessive allele is only expressed when there is no dominant allele present. A capital letter is used for the dominant allele (T) and a small letter for the recessive allele (t).

Definition
Dominant allele
An allele that is expressed if it is present in the genotype.
Definition
Recessive allele
An allele that is only expressed when there is no dominant allele of the gene present.
genotypephenotypeTThomozygoustallTtheterozygoustalltthomozygousdwarf
FIG 17.12 Genotype and phenotype for the three combinations of T and t.
GenotypeDescriptionPhenotype
TTHomozygous (two identical alleles)Tall
TtHeterozygous (two different alleles)Tall
ttHomozygous (two identical alleles)Dwarf

Two identical homozygous individuals that breed together will be pure-breeding: all their offspring have the same genotype and phenotype as the parents. A heterozygous individual will not be pure-breeding.

Worked example (describing genotypes): Describe the genotypes TT and Tt, and state whether each would be pure-breeding. Step 1. TT has two identical alleles, so it is homozygous and is pure-breeding when bred with another TT. Step 2. Tt has two different alleles, so it is heterozygous and is not pure-breeding. Answer: TT: homozygous, pure-breeding; Tt: heterozygous, not.

Examiner note
A dominant allele is expressed even when only one copy is present. A recessive allele is expressed only when no dominant allele is present.
Why this matters
Dominance explains why two tall parents can have a dwarf child.

Genetic Diagrams

A genetic diagram predicts the results of a cross. Each parent makes gametes containing one allele of the gene. Fertilisation then combines two gametes at random.

TttallTttall×TtTtgametesrandom fertilisationTTtallTttallTttallttdwarfphenotype ratio 3 tall : 1 dwarf
FIG 17.13 A cross between two heterozygous tall plants.
GametesTt
TTTTt
tTttt

The offspring are TT, Tt, Tt and tt. Three of the four genotypes give tall plants and one gives a dwarf plant, so the phenotype ratio is 3 : 1.

Worked example (using a Punnett square): Two heterozygous tall pea plants are crossed. State the chance that an offspring is dwarf. Step 1. The offspring genotypes are TT, Tt, Tt and tt. Step 2. Only tt is dwarf, so the chance is 1 in 4 (25%). Answer: 1 in 4 (25%).

Definition
Punnett square
A grid that shows every possible combination of the gametes of the two parents.

Worked example (predicting a ratio): Two heterozygous tall pea plants are crossed. State the expected phenotype ratio of the offspring. Step 1. The offspring genotypes are TT, Tt, Tt and tt. Step 2. TT, Tt and Tt are tall (3). tt is dwarf (1). Answer: 3 tall : 1 dwarf.

Examiner note
Always show the parental genotypes, the gametes, the offspring genotypes and the offspring phenotypes.
Why this matters
Genetic diagrams let you predict the results of a cross.

More Crosses

The ratio of phenotypes depends on the genotypes of the parents. In Core you must work out 1 : 1 and 3 : 1 ratios.

Definition
Phenotypic ratio
The ratio of the different phenotypes among the offspring, such as 3 : 1 or 1 : 1.
Tttallttdwarf×Ttttgametesrandom fertilisationTttallTttallttdwarfttdwarfphenotype ratio 1 tall : 1 dwarf
FIG 17.14 A cross between a heterozygous tall plant and a dwarf plant.
GametesTt
tTttt
tTttt
CrossOffspring genotypesPhenotypes
Tt × TtTT, Tt, Tt, tt3 tall : 1 dwarf
Tt × ttTt, Tt, tt, tt1 tall : 1 dwarf
TT × ttAll TtAll tall

Worked example (a 1 : 1 ratio): A heterozygous tall plant is crossed with a dwarf plant. State the expected phenotype ratio. Step 1. The gametes are T and t from the tall plant, and only t from the dwarf plant. Step 2. The offspring are Tt and tt in equal numbers: 1 tall : 1 dwarf. Answer: 1 tall : 1 dwarf.

Worked example (a cross with a homozygous parent): A pure-breeding tall plant (TT) is crossed with a dwarf plant (tt). State the genotypes and the phenotype of the offspring. Step 1. The tall plant can only make T gametes and the dwarf plant can only make t gametes. Step 2. Every offspring receives one T and one t, so all are Tt and all are tall. Answer: all Tt; all tall.

Examiner note
A ratio is a prediction. Real offspring numbers may not match it exactly.
Why this matters
Knowing the ratio for each cross lets you work backwards to the parents.

Pedigree Diagrams

A pedigree diagram shows a characteristic across generations. A square is a male, a circle is a female, and shading shows who has the characteristic. A horizontal line joins parents, and a vertical line leads to their children.

Definition
Pedigree diagram
A family tree that shows how a characteristic is inherited through generations.
I-1I-2II-1II-2II-3malefemalehas the characteristicdoes not have it
FIG 17.15 A pedigree diagram. Individual II-2 has the characteristic; neither of her parents has it.

Reading a pedigree

ClueConclusion
Two parents without the characteristic have a child who has itThe characteristic is caused by a recessive allele, and both parents carry it (they are heterozygous)
An individual with the characteristicIf it is recessive, the individual is homozygous recessive

Worked example (interpreting a pedigree): In Fig 17.15, explain how you know the characteristic is caused by a recessive allele. Step 1. Individuals I-1 and I-2 do not have the characteristic, but their daughter II-2 does. Step 2. So the allele must be recessive: both parents carry it but do not show it. Answer: recessive; both parents carry it.

Worked example (working out a genotype): In Fig 17.15, state the genotype of II-2, using A for the dominant allele and a for the recessive allele. Step 1. II-2 has the characteristic, which is caused by the recessive allele. Step 2. A recessive allele is only expressed when no dominant allele is present, so II-2 is aa. Answer: aa.

Examiner note
Look for two unaffected parents with an affected child: the characteristic is then caused by a recessive allele.
Why this matters
Pedigrees are used to follow inherited conditions in families.

Test Cross and Codominance

ExtendedUsing a test cross

An organism with the dominant phenotype could be homozygous (TT) or heterozygous (Tt). To find out, cross it with a homozygous recessive (tt) and look at the offspring.

Unknown genotypeOffspringConclusion
TTAll tall (all Tt)Unknown parent is TT
Tt1 tall : 1 dwarf (Tt and tt)Unknown parent is Tt

Any dwarf offspring show that the unknown parent carries the recessive allele.

ExtendedCodominance

In codominance, both alleles in a heterozygous organism contribute to the phenotype. Neither allele is dominant. Different alleles are written as a capital letter with a superscript, for example CR and CW.

Definition
Codominance
(Extended) Both alleles in a heterozygous organism contribute to the phenotype.
CR CRredCR CWred and white patchesCW CWwhite
FIG 17.16 Codominance: the heterozygous flower shows both colours (Extended)

Worked example (a test cross): A tall pea plant is crossed with a dwarf plant. Half of the offspring are dwarf. State the genotype of the tall parent, and explain. Step 1. Half the offspring are dwarf (tt), so each parent gave a t allele. Step 2. So the tall parent is heterozygous, Tt. Answer: Tt (heterozygous).

Definition
Test cross
(Extended) A cross between an organism showing the dominant phenotype and a homozygous recessive organism, used to find an unknown genotype.
Examiner note
In a test cross the unknown is crossed with a homozygous recessive. Any recessive offspring show the unknown is heterozygous.
Why this matters
Breeders use a test cross to find out whether a tall plant or an animal with a dominant feature is pure-breeding.

ABO Blood Groups

ExtendedThe alleles and phenotypes

The ABO blood group is controlled by one gene with three alleles: IA, IB and Io. The phenotypes are blood groups A, B, AB and O.

Definition
ABO blood groups
(Extended) The phenotypes are A, B, AB and O. The alleles are IA, IB and Io.
GenotypePhenotype (blood group)
IAIA or IAIoA
IBIB or IBIoB
IAIBAB (codominance)
IoIoO

ExtendedA cross

A parent of group A (IAIo) and a parent of group B (IBIo) can have children of all four groups.

GametesIBIo
IAIAIB (AB)IAIo (A)
IoIBIo (B)IoIo (O)

The four offspring genotypes give groups AB, A, B and O in the ratio 1 : 1 : 1 : 1.

Worked example (blood groups): A mother has blood group O and a father has blood group AB. State the possible blood groups of their children. Step 1. The mother is IoIo, so every gamete carries Io. The father gives either IA or IB. Step 2. The children are IAIo (group A) or IBIo (group B). Answer: group A or group B.

Worked example (two parents of group A): Both parents are group A with the genotype IAIo. Can they have a child with group O? Step 1. Each parent makes IA gametes and Io gametes. Step 2. A child receiving Io from both parents is IoIo, which is group O. The chance is 1 in 4. Answer: yes; 1 in 4.

Examiner note
IA and IB are codominant, and both are dominant to Io. Group AB shows both.
Why this matters
ABO is a common example of codominance and multiple alleles.

Sex Linkage

ExtendedRed-green colour blindness

A sex-linked characteristic is one where the gene is on a sex chromosome, so the characteristic is more common in one sex than the other. Red-green colour blindness is an example. The allele is recessive and is on the X chromosome. Normal vision is XB and colour blindness is Xb.

Definition
Sex-linked characteristic
(Extended) A feature in which the gene responsible is located on a sex chromosome, making the characteristic more common in one sex than in the other.
GenotypePhenotype
XBXBFemale, normal vision
XBXbFemale, normal vision (a carrier)
XbXbFemale, colour-blind
XBYMale, normal vision
XbYMale, colour-blind

ExtendedA genetic diagram

XB Xbcarrier motherXB Yfather×XBXbXBYgametesrandom fertilisationXB XBdaughter, normalXB Xbdaughter, carrierXB Yson, normalXb Yson, colour-blind1 in 2 sons colour-blind; no daughters colour-blind
FIG 17.17 A carrier mother and a father with normal vision (Extended)

Worked example (explaining sex linkage): Explain why red-green colour blindness is more common in males than in females. Step 1. The allele is recessive and on the X chromosome. Males have only one X chromosome, and the Y chromosome does not carry the gene, so one Xb allele makes a male colour-blind. Step 2. Females have two X chromosomes, so they need two Xb alleles to be colour-blind. Answer: males need one allele; females need two.

Examiner note
A son gets his X chromosome from his mother and his Y from his father, so he cannot inherit colour blindness from his father.
Why this matters
Sex linkage explains why some conditions are much more common in males.

Exam advice

Common mistakes

Mixing up genotype and phenotype
Genotype is the alleles (Tt). Phenotype is the observable feature (tall).
Saying a heterozygous organism is pure-breeding
Only homozygous individuals are pure-breeding.
Treating a 3 : 1 ratio as an exact result
A ratio predicts the likelihood; real numbers may not match exactly.
Describing blood group AB as one allele dominant over the other
IA and IB are codominant, so both are expressed.
Saying a son inherits colour blindness from his father
A son inherits his X chromosome, and the allele on it, from his mother.

Model answer

Two heterozygous tall pea plants (Tt) are crossed. Use a genetic diagram to show the phenotype ratio of their offspring.
[4 marks]
Mark 1
[k] Parents.
Parental genotypes: Tt × Tt.
Mark 2
[k] Gametes.
Gametes: T and t from each parent.
Mark 3
[k] Offspring genotypes.
TT, Tt, Tt and tt.
Mark 4
[k] Phenotype ratio.
3 tall : 1 dwarf.

Recall checklist

  • Define genotype and phenotype.
  • Define homozygous, heterozygous, dominant, recessive.
  • Explain pure-breeding.
  • Draw a genetic diagram for 3 : 1 and 1 : 1.
  • Interpret a pedigree diagram.
  • Explain a test cross and codominance (Extended)
  • Explain ABO blood group inheritance (Extended)
  • Explain sex linkage and colour blindness (Extended)

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