The Roles of Genes in Determining the Phenotype

2026 Syllabus Objectives

By the end of this topic, you should be able to:

  1. Explain the terms gene, locus, allele, dominant, recessive, codominant, linkage, test cross, F1, F2, phenotype, genotype, homozygous and heterozygous
  2. Interpret and construct genetic diagrams, including Punnett squares, to explain and predict the results of monohybrid crosses and dihybrid crosses that involve dominance, codominance, multiple alleles and sex linkage
  3. Interpret and construct genetic diagrams, including Punnett squares, to explain and predict the results of dihybrid crosses that involve autosomal linkage and epistasis
  4. Interpret and construct genetic diagrams, including Punnett squares, to explain and predict the results of test crosses
  5. Use the chi-squared test to test the significance of differences between observed and expected results
  6. Explain the relationship between genes, proteins and phenotype with respect to: TYR gene, tyrosinase and albinism; HBB gene, haemoglobin and sickle cell anaemia; F8 gene, factor VIII and haemophilia; HTT gene, huntingtin and Huntington's disease
  7. Explain the role of gibberellin in stem elongation including the role of the dominant allele Le and the recessive allele le

1. Key Genetic Terms

Understanding genetics starts with knowing the basic vocabulary. These terms form the foundation for everything else you'll learn in this topic.

Gene

A gene is a section of DNA that contains the instructions for making a specific protein or polypeptide. Think of it as a recipe in a cookbook - each gene is a recipe for a particular protein.

Locus (plural: loci)

The locus is the specific position where a gene is located on a chromosome. It's like the page number where you'd find a particular recipe in a cookbook. Every organism has the same genes at the same loci on matching chromosomes.

Allele

Alleles are different versions of the same gene. For example, a gene for eye color might have a blue allele and a brown allele. Alleles exist because the DNA sequence can vary slightly between individuals, though the gene is still in the same location (locus) on the chromosome.

Genotype

The genotype is the genetic makeup of an organism - which alleles it possesses. For example, if we use B for a brown eye allele and b for a blue eye allele, a person could have genotype BB, Bb, or bb.

Phenotype

The phenotype is the observable characteristics of an organism that result from its genotype interacting with the environment. Using our eye color example, the phenotype would be the actual color of the person's eyes that you can see.

Homozygous

An organism is homozygous for a gene when it has two identical alleles. For example, BB or bb. The organism is "pure-breeding" for that characteristic.

Heterozygous

An organism is heterozygous for a gene when it has two different alleles. For example, Bb. The organism has one copy of each version of the gene.

Dominant Allele

A dominant allele is expressed in the phenotype even when only one copy is present. We represent dominant alleles with capital letters (like B). If you have genotype BB or Bb, the dominant allele will show in your phenotype.

Recessive Allele

A recessive allele is only expressed in the phenotype when two copies are present (homozygous). We represent recessive alleles with lowercase letters (like b). You need genotype bb to see a recessive characteristic.

Codominant Alleles

Codominant alleles are both expressed equally in the phenotype when present together. Neither dominates the other. For example, in snapdragon flowers, a red allele (C^R) and a white allele (C^W) are codominant - a plant with both (C^R C^W) has pink flowers showing both red and white pigments.

F1 and F2 Generations

  • F1 (First Filial generation) refers to the offspring produced when two pure-breeding (homozygous) parents are crossed
  • F2 (Second Filial generation) refers to the offspring produced when two F1 individuals are crossed with each other

Linkage

Linkage occurs when two or more genes are located on the same chromosome. Because they're physically connected on the same DNA molecule, linked genes tend to be inherited together rather than assorting independently.

Test Cross

A test cross is a breeding experiment used to determine the unknown genotype of an organism showing a dominant phenotype. The organism is crossed with one that has the recessive phenotype (which has a known homozygous recessive genotype). The offspring ratios reveal whether the unknown parent was homozygous dominant or heterozygous.

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