D3.2Theme D — Continuity and change
Inheritance — IB Biology SL Revision Notes & Topical Questions
10 min read 13 parts Lesson 8 of 14 2 quizzes
Curriculum Equation Key قوانين الرقم الهيدروجيني والاتزان الأيوني - pH & Acid-Base Equilibrium FormulasFast Exam Solution
pH = -log[H⁺] | pOH = -log[OH⁻] | pH + pOH = 14 | [H⁺][OH⁻] = 10⁻¹⁴
Word Equation & Conditions: الرقم الهيدروجيني = -لوغاريتم تركيز أيون الهيدروجين | pH + pOH = 14
Location & Specifications: الاتزان الأيوني، كيمياء 3 ثانوي، التحصيلي، و AP Chemistry.
Lesson summary
D3.2 Inheritance — IB BIOLOGY SL notes: Carry out and interpret genetic crosses, and explain dominance, multiple alleles, sex linkage, pedigrees and continuous variation.Gametes — haploid cells made by meiosis, each with one chromosome of each pair and so one allele of each geneT…
- Fertilisation
- Units of inheritance
- Flower types
- Monohybrid cross
- Punnett grid
- Probability
Section 1 of 13Gametes, fertilisation and genotype terms
Gametes, fertilisation and genotype terms
Gametes
- Gametes haploid cells made by meiosis, each with one chromosome of each pair and so one allele of each gene
- The egg is large and stores food for the early embryo.
- The sperm is small with many mitochondria that supply ATP for swimming.
- Human gametes have 23 single chromosomes and body cells have 23 pairs (46).
Fertilisation
- Fertilisation the fusion of gamete nuclei gives a diploid zygote with two alleles of each gene
- One allele comes from each parent, so offspring are varied.
Gene
Gene a short length of DNA on a chromosome that codes for a characteristic
Allele
Allele a variant of the same gene, found at the same locus
- Gene and allele must not be used interchangeably.
Genotype
Genotype the combination of alleles an individual inherits
- Homozygoustwo identical alleles, either homozygous dominant or homozygous recessive.
- Heterozygoustwo different alleles.
Phenotype
Phenotype the observable characteristics of an organism
Section 2 of 13Mendel and plant breeding
1
Mendel
- Mendel the Austrian monk who crossed pea plants in the mid-19th century
- He transferred pollen by hand from one plant to another, so the parentage of every seed was certain.
- He studied plant height, flower colour and seed coat texture, among others.
- He used large numbers and repeated crosses, so his ratios were reliable.
2
Results
- The P generation was pure-breeding (homozygous) for different phenotypes.
- Every plant in F1 resembled one parent only.
- F2 plants showed both parental forms in a ratio of about 3:1.
3
Units of inheritance
- Mendel's term for what we now call genes, some dominant and some recessive
4
Flower types
- Flower types both sexes in one flower, separate male and female flowers on one plant, or separate male and female plants
- A plant with both sexes can self-pollinate, which keeps useful traits in a line.
- Growers can cross-pollinate chosen plants artificially to combine desirable traits.
Section 3 of 13Monohybrid crosses
Monohybrid cross
Monohybrid cross a cross involving one gene with two alleles, starting from pure-breeding parents
Punnett grid
Punnett grid a table that predicts the probability of offspring genotypes and phenotypes
1
Choose allele symbols and write the parental phenotypes and genotypes.
2
List every type of haploid gamete each parent can produce.
3
Put one parent's gametes along each axis of a 2 × 2 grid.
4
Fill each box by combining the gametes to give the offspring genotypes.
5
Convert the genotypes into phenotypes.
6
State the genotype and phenotype ratios.
Example
- Example green pods G are dominant to yellow g
- GG × gg gives all Gg, all green, in F1.
- Gg × Gg gives 1 GG : 2 Gg : 1 gg in F2, a phenotype ratio of 3 green : 1 yellow.
Probability
- Probability predicted ratios are probabilities, and small samples often differ from them
Letters
- Letters choose symbols whose capital and lower-case forms look different
Section 4 of 13Dominance and phenotype
Dominance and phenotype
Dominant allele
- Dominant allele needs to be inherited from only one parent for the trait to show
Recessive allele
- Recessive allele must be inherited from both parents, and it is hidden in a heterozygote
| Feature | Complete dominance | Codominance | Incomplete dominance |
|---|---|---|---|
| Heterozygote phenotype | Same as dominant homozygote | Both traits visible | A blend or intermediate |
| Phenotypes (two alleles) | Two | Three | Three |
| Heterozygote × heterozygote | 3:1 | 1:2:1 | 1:2:1 |
| Example | Pea stem height | Speckled chickens CWCB, AB blood | Pink flowers CWCR in the four o'clock (marvel of Peru) |
| Symbols | T and t | Superscripts | Superscripts |
Dominance and phenotype
Factors deciding phenotype
- Genotype only, as in ABO blood group.
- Environment only, as in scars and accent.
- Both together, as in height and skin colour.
Phenotypic plasticity
- Phenotypic plasticity the genotype is fixed but its expression varies with the environment
- UV radiation activates enzymes that raise melanin production and darken the skin.
- In the Himalayan rabbit the fur pigment gene is inactive above 35 °C and active at 15-25 °C, so cool ears, feet and nose turn black.
Section 5 of 13Phenylketonuria
PKU
- PKU an autosomal recessive condition
- A mutation in the PAH gene makes phenylalanine hydroxylase non-functional.
- Phenylalanine builds up, which can cause seizures and learning difficulties.
- About 1 in 10 000 births in the UK are affected.
- It is controlled by a low-phenylalanine diet.
Carriers
- Carriers two unaffected heterozygous parents have a 25% chance per child of PKU and a 75% chance of not having it
- Cystic fibrosis follows the same pattern.
Screening
- Screening a heel-prick blood sample a few days after birth tests for PKU and other conditions
Section 6 of 13Multiple alleles and blood groups
Multiple alleles and blood groups
SNP
- SNP a single base difference between alleles
- Alleles occupy the same locus.
- A small change can have a large effect on function.
Multiple alleles
- Multiple alleles the ABO gene has three alleles, IA, IB and i
- IA and IB are codominant and both are dominant over i.
- An individual carries only two alleles.
| Group | Possible genotypes | Antigen on red cells | Antibodies in plasma |
|---|---|---|---|
| A | IAIA or IAi | A | Anti-B |
| B | IBIB or IBi | B | Anti-A |
| AB | IAIB | A and B | None |
| O | ii | Neither | Anti-A and anti-B |
Multiple alleles and blood groups
Cross
- Cross a heterozygous group A parent and a heterozygous group B parent can have children of all four groups
Transfusion
- Transfusion the wrong blood group triggers antibodies, so red cells clump and clots form
Section 7 of 13Sex determination
Sex chromosomes
- Sex chromosomes pair 23 is XX in females and XY in mammalian males
- Pairs 1-22 are autosomes with no effect on sex.
- The rule does not apply to all species.
Role of the father
- Role of the father half the sperm carry X and half carry Y
- Every egg carries an X.
- Daughters get the father's X and sons get his Y, giving a 1:1 sex ratio.
X and Y chromosomes
- X and Y chromosomes the X is larger with its centromere nearer the middle and carries about 16 times more genes than the Y
- Genes for blood clotting factors are on the X and not the Y.
- The Y carries the SRY gene, which triggers testis development and testosterone production.
- Without SRY, ovaries develop.
Section 8 of 13Sex-linked inheritance: haemophilia
Sex linkage
- Sex linkage a gene on the X chromosome is inherited differently in males and females
- Males (XY) have one copy of the gene and are hemizygous.
- Females (XX) have two copies, so they can be normal, carriers or affected.
Haemophilia
- Haemophilia a recessive X-linked allele fails to make clotting factor VIII, so blood clots slowly
- F is the normal allele and f the recessive allele.
| Genotype | Sex | Phenotype |
|---|---|---|
| XFXF | Female | Unaffected |
| XFXf | Female | Carrier with normal clotting |
| XfXf | Female | Affected, very rare |
| XFY | Male | Unaffected |
| XfY | Male | Affected |
1
A carrier mother makes eggs with XF or Xf.
2
An unaffected father makes sperm with XF or Y.
3
The gametes fuse at random.
4
Daughters receive the father's XF, so none is affected and half are carriers.
5
Sons receive the father's Y and one maternal X.
6
Half the sons receive Xf and are affected.
Pattern
- Pattern affected sons inherit the allele from their mother and never from their father
Notation
- Notation upper-case X and Y with superscripts for the alleles
Section 9 of 13Pedigree charts
Pedigree chart
- Pedigree chart traces the inheritance of a characteristic through the generations of a family
- Squares are males and circles are females.
- Shaded or coloured symbols are affected individuals.
- A horizontal line joins parents and their children hang below.
- Roman numerals label the generations, with the eldest child on the left.
Recessive allele
- Recessive allele two unaffected parents with an affected child shows the allele is recessive
- Both parents are carriers.
- The trait can skip a generation.
Dominant allele
- Dominant allele an affected child always having an affected parent suggests a dominant allele
Sex linkage
- Sex linkage an excess of affected males suggests an X-linked trait
Close relatives
- Close relatives they are more likely to share harmful recessive alleles, which raises the risk of affected children
Reasoning
- Inductive reasoning draws a general rule from specific observations.
- Deductive reasoning draws a specific conclusion from known rules.
Section 10 of 13Continuous variation and box plots
| Feature | Discrete | Continuous |
|---|---|---|
| Categories | Clear separate classes | A range between two extremes |
| Genes involved | Usually one or few | Many (polygenes) |
| Environmental effect | Little or none | Often large |
| Graph type | Bar chart or pie chart | Histogram, box plot or normal curve |
| Example | Blood group with Rhesus factor | Height, birth mass and skin colour |
Polygenic trait
- Polygenic trait many genes each add a small effect, so phenotype = genotype + environment
- Skin colour depends on genes for melanin production and on UV exposure.
- Birth mass shows a normal distribution and is affected by the mother's diet, twins and smoking.
Box plot
- Box plot shows the lowest value, first quartile, median, third quartile and highest value
- The box shows the interquartile range, the middle 50% of the data.
- The whiskers show the lowest and highest 25%.
Outlier
- Outlier a point more than 1.5 × the interquartile range beyond a quartile, plotted separately
Section 11 of 13More from the specification
More from the specification
Family lineage tracking via pedigree charts
- Family lineage tracking via pedigree charts genetic counselors construct phenotypic pedigree charts to trace inheritance patterns of sex-linked or autosomal alleles.
Pedigree chart analysis
- Standard genealogical diagrams showing phenotypic inheritance patterns across generations to deduce whether traits are autosomal dominant, autosomal recessive,
- or sex-linked.
Genotypic determination
- Deducing unknown parental genotypes from observed phenotypic ratios in offspring using test crosses.
Mendelian segregation
- Alleles segregate during gamete formation so that each gamete carries only one allele for each gene.
Plant reproductive parts in genetics
- Stamen and pistil/carpel (stigma, style, ovary) facilitate controlled pollination in hybridization experiments.
- (anther and filament)
Section 12 of 13Key terms
| Term | Meaning |
|---|---|
| Allele | One of the different forms of the same gene. |
| Genotype | The combination of alleles that an individual has for a gene. |
| Phenotype | The observable characteristics of an organism. |
| Homozygous | Having two identical alleles of a gene. |
| Heterozygous | Having two different alleles of a gene. |
| Codominance | Both alleles are fully expressed in the heterozygote. |
| Sex linkage | Inheritance of a gene carried on a sex chromosome. |
| Polygenic trait | A trait controlled by many genes, showing continuous variation. |
Section 13 of 13Exam technique
1
Using gene and allele as the same word — a gene has different alleles
2
Saying a recessive trait always shows in the child of two carriers — only 25% of children are affected
3
Saying haemophilia passes from father to son — the affected son receives the allele from his mother
4
Saying predicted ratios are exact — they are probabilities
Marked practiceQuizzes for this lesson
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