Database results:
    examBoard: Pearson Edexcel
    examType: IGCSE
    lessonTitle: Phenotype and Genotype
    
Biology - Genetics and Inheritance - Inheritance Patterns - Phenotype and Genotype - BrainyLemons
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Inheritance Patterns » Phenotype and Genotype

What you'll learn this session

Study time: 30 minutes

  • The difference between phenotype and genotype
  • How to use genetic diagrams to predict inheritance patterns
  • Dominant and recessive alleles
  • Monohybrid inheritance
  • How to use Punnett squares
  • Co-dominance and incomplete dominance
  • Sex-linked inheritance

Introduction to Phenotype and Genotype

Have you ever wondered why you have your mum's eyes but your dad's hair colour? Or why some traits seem to skip generations? The answers lie in understanding phenotype and genotype - two fundamental concepts in genetics that help us understand how traits are passed from parents to offspring.

Key Definitions:

  • Genotype: The genetic makeup of an organism - the alleles it possesses for particular traits.
  • Phenotype: The observable characteristics of an organism - what you can actually see.
  • Allele: Different versions of the same gene.
  • Dominant allele: An allele that will always be expressed if present (usually written as a capital letter).
  • Recessive allele: An allele that will only be expressed if no dominant allele is present (usually written as a lowercase letter).
  • Homozygous: Having two identical alleles for a particular gene (e.g., AA or aa).
  • Heterozygous: Having two different alleles for a particular gene (e.g., Aa).

🏠 Genotype vs Phenotype

Think of your genotype as the blueprint (your DNA) and your phenotype as the finished building. Your genotype is like the instructions that determine what you could look like, while your phenotype is what you actually look like after those instructions are followed.

🚀 Why This Matters

Understanding the relationship between genotype and phenotype helps us predict inheritance patterns, understand genetic disorders and even develop treatments for genetic conditions. It's also crucial for plant and animal breeding.

Dominant and Recessive Alleles

Genes often come in different versions called alleles. For many traits, one allele is dominant over the other, which is recessive. This means that if you have at least one dominant allele, you'll show that trait in your phenotype.

How Dominance Works

Let's use a simple example: the gene for earlobe attachment in humans. Free earlobes (E) are dominant over attached earlobes (e).

💯 Homozygous Dominant (EE)

Both alleles are dominant. Phenotype: Free earlobes.

💯 Heterozygous (Ee)

One dominant, one recessive allele. Phenotype: Free earlobes (dominant allele masks recessive).

💯 Homozygous Recessive (ee)

Both alleles are recessive. Phenotype: Attached earlobes.

Monohybrid Inheritance and Punnett Squares

Monohybrid inheritance refers to the inheritance of a single gene with two alleles. We can predict the outcomes of genetic crosses using Punnett squares - a handy grid that helps us work out all possible combinations of alleles.

Using Punnett Squares

Let's look at an example using pea plants. In peas, tall (T) is dominant over short (t).

Example: Crossing Two Heterozygous Plants (Tt × Tt)

Step 1: Write the possible gametes from each parent along the top and side of the grid.

Step 2: Fill in each box with the combined alleles.

Step 3: Count up the different genotypes and phenotypes.

T t
T TT Tt
t Tt tt

Results:

  • Genotype ratio: 1 TT : 2 Tt : 1 tt
  • Phenotype ratio: 3 tall plants : 1 short plant

Beyond Simple Dominance

Not all inheritance follows the simple dominant-recessive pattern. Sometimes, both alleles can influence the phenotype.

💡 Co-dominance

Both alleles are fully expressed in the phenotype. For example, in roan cattle, the allele for red coat (R) and the allele for white coat (W) are co-dominant. Heterozygous cattle (RW) have a roan coat - a mixture of red and white hairs.

💡 Incomplete Dominance

The heterozygous phenotype is a blend or intermediate between the two homozygous phenotypes. For example, in snapdragon flowers, red (R) and white (r) alleles show incomplete dominance. Heterozygous plants (Rr) have pink flowers.

Sex-Linked Inheritance

Some genes are located on the sex chromosomes (X and Y). In humans, females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). Genes on the X chromosome are called X-linked.

X-Linked Recessive Disorders

Many X-linked genes have no equivalent on the Y chromosome. This means males only need one recessive allele to show the trait, while females need two.

Case Study Focus: Colour Blindness

Red-green colour blindness is an X-linked recessive condition. The normal allele (C) is dominant over the colour-blind allele (c).

For females to be colour blind, they need two copies of the recessive allele (XᶜXᶜ). But males only need one copy (XᶜY) because their Y chromosome doesn't have this gene at all.

This explains why colour blindness is much more common in males (about 8%) than females (about 0.5%).

Genetic Diagrams and Inheritance Patterns

Geneticists use special diagrams to track inheritance patterns across generations. These help us predict the likelihood of certain traits appearing in offspring.

Family Pedigrees

A family pedigree is a diagram showing the occurrence of a genetic trait across multiple generations. They're particularly useful for tracking inherited disorders.

How to Read a Pedigree

In a pedigree diagram:

  • Squares represent males
  • Circles represent females
  • Shaded symbols show individuals with the trait
  • Unshaded symbols show individuals without the trait
  • Horizontal lines between symbols represent marriages/partnerships
  • Vertical lines lead to offspring

By analyzing patterns in pedigrees, geneticists can determine if a trait is dominant or recessive and whether it's autosomal (on non-sex chromosomes) or sex-linked.

Applying Your Knowledge

Understanding genotype and phenotype isn't just theoretical - it has real-world applications in medicine, agriculture and conservation.

🏥 Medical Applications

Genetic counsellors use inheritance patterns to help families understand the risk of passing on genetic disorders. Knowing whether a condition is dominant, recessive, or sex-linked helps determine the probability of children inheriting the condition.

🌾 Agricultural Applications

Plant and animal breeders use their understanding of inheritance to develop varieties with desirable traits, such as disease resistance in crops or specific coat colours in pets.

Summary: Key Points to Remember

  • Genotype is the genetic makeup; phenotype is the observable characteristics
  • Dominant alleles are expressed when present; recessive alleles are only expressed when no dominant allele is present
  • Punnett squares help predict the outcomes of genetic crosses
  • Not all inheritance follows simple dominance - co-dominance and incomplete dominance are also possible
  • Sex-linked traits show different inheritance patterns in males and females
  • Understanding inheritance patterns has important applications in medicine and agriculture
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