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Chromosomes & Alleles
Human cells are diploid (2n) – two copies of each chromosome (one from each parent).
Chromosomes exist in homologous pairs (e.g., two chromosome 1s).
Each gene exists at a fixed position called a locus on both chromosomes in a pair.
Versions of a gene are called alleles.
Genotype & Phenotype Terms
Term | Meaning |
|---|---|
Allele | A version of a gene |
Locus | The fixed position of a gene on a chromosome |
Genotype | The combination of alleles an organism has (e.g., Aa) |
Phenotype | The physical expression of the genotype (e.g., brown eyes) |
Homozygous dominant | Two dominant alleles (e.g., AA) |
Homozygous recessive | Two recessive alleles (e.g., aa) |
Heterozygous | One dominant and one recessive allele (e.g., Aa) |
Dominant allele | Always expressed in the phenotype if present |
Recessive allele | Only expressed in the phenotype if both alleles are recessive |
Monohybrid Inheritance
What is it?
Mono = one, hybrid = cross.
Involves inheritance of one gene with two alleles.
Also known as Mendelian inheritance.
Generations
F₁ Generation: First generation of offspring
F₂ Generation: Offspring of F₁ crossed with each other
Genetic Crosses & Predictable Ratios
Cross: Homozygous dominant × Homozygous recessive
Cross: Heterozygous × Heterozygous (F₁ × F₁)
Cross: Homozygous dominant × Homozygous recessive
Example: Round (RR) × Wrinkled (rr) peas
All offspring: Rr (heterozygous)
Phenotype: 100% round
Ratio: 100% dominant phenotype
Cross: Heterozygous × Heterozygous (F₁ × F₁)
Example: Rr × Rr
Genotypes: RR, Rr, Rr, rr
Phenotypic ratio: 3:1
3 round : 1 wrinkled
Genotypic ratio: 1 RR : 2 Rr : 1 rr
Why Might Actual Ratios Differ from Expected
Random fertilisation – gamete fusion is chance-based
Small sample size – low offspring number skews ratios
Crossing over & independent assortment – adds genetic variation
Co-dominance – alters typical dominant/recessive patterns
Sex linkage – inheritance affected by sex chromosomes (covered separately)
What is co-dominance?
Both alleles are expressed in the phenotype.
Neither allele is recessive.
Can result in:
Blended phenotype
Patchwork phenotype
Co-dominance with Multiple Alleles: Blood Groups
Gene: I (Immunoglobulin)
Iᴬ: A antigen
Iᴮ: B antigen
Iᴼ: No antigen (recessive)
Blood Group Combinations
Genotype | Blood Type | Phenotype |
|---|---|---|
IᴬIᴬ or IᴬIᴼ | A | A antigens |
IᴮIᴮ or IᴮIᴼ | B | B antigens |
IᴬIᴮ | AB | A & B antigens (co-dominant) |
IᴼIᴼ | O | No antigens |
Key Points:
A and B are co-dominant
O is recessive
O individuals can donate to anyone (universal donor)
AB individuals can receive from anyone (universal recipient)