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Theme A - Unity & Diversity
Theme A - Unity & Diversity
Theme B - Form & Function
Theme B - Form & Function
Theme C - Interaction &  Interdependence
Theme C - Interaction & Interdependence
Theme D - Continuity & Change
Theme D - Continuity & Change
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Theme D - Continuity & Change
Biology SL
Biology SL

Theme D - Continuity & Change

Unlocking PKU A Recessive Allele Disease

Word Count Emoji
527 words
Reading Time Emoji
3 mins read
Updated at Emoji
Last edited on 14th Jun 2024

Table of content

Summary 🌈

Imagine your DNA as an ultimate guidebook to "You." Sometimes, however, this book has typos! One such "typo" can lead to diseases like Phenylketonuria (PKU). This disease is caused by a recessive allele that messes up the normal functioning of an enzyme, leading to serious health issues. Let's dig into the nitty-gritty!

Vocabulary 🎲

  • Allele: A variant of a gene.
  • Recessive Allele: An allele that only shows its effect if both copies are present.
  • Dominant Allele: An allele that shows its effect even if only one copy is present.
  • Carrier: An individual with one dominant and one recessive allele.
  • Phenylalanine: An amino acid used to make proteins.
  • Tyrosine: Another amino acid involved in protein creation.
  • Autosome: Non-sex chromosome.

Genetic Diseases and Recessive Alleles 🏥

  • Most genetic diseases are caused by recessive alleles.
  • The disease manifests only if you inherit two copies of this recessive allele.
  • Individuals with one dominant and one recessive allele are called "carriers."

🎯 Real-World Example

Think of recessive alleles like an undercover spy. If one spy (recessive allele) is alone, it can't do much. But when two spies meet (two recessive alleles), they carry out their mission: in this case, unfortunately, causing a disease.

What's Phenylketonuria (PKU)? 👶

  • A disease caused by a recessive allele.
  • The enzyme phenylalanine hydroxylase doesn't function correctly.
  • Leads to an accumulation of phenylalanine and a deficiency in tyrosine.

🎯 Real-World Example

PKU is like a garbage truck (enzyme) that's supposed to pick up your trash (phenylalanine) and convert it into something useful (tyrosine). If the garbage truck breaks down, the trash piles up and things get stinky (brain development issues).

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IB Resources
Theme D - Continuity & Change
Biology SL
Biology SL

Theme D - Continuity & Change

Unlocking PKU A Recessive Allele Disease

Word Count Emoji
527 words
Reading Time Emoji
3 mins read
Updated at Emoji
Last edited on 14th Jun 2024

Table of content

Summary 🌈

Imagine your DNA as an ultimate guidebook to "You." Sometimes, however, this book has typos! One such "typo" can lead to diseases like Phenylketonuria (PKU). This disease is caused by a recessive allele that messes up the normal functioning of an enzyme, leading to serious health issues. Let's dig into the nitty-gritty!

Vocabulary 🎲

  • Allele: A variant of a gene.
  • Recessive Allele: An allele that only shows its effect if both copies are present.
  • Dominant Allele: An allele that shows its effect even if only one copy is present.
  • Carrier: An individual with one dominant and one recessive allele.
  • Phenylalanine: An amino acid used to make proteins.
  • Tyrosine: Another amino acid involved in protein creation.
  • Autosome: Non-sex chromosome.

Genetic Diseases and Recessive Alleles 🏥

  • Most genetic diseases are caused by recessive alleles.
  • The disease manifests only if you inherit two copies of this recessive allele.
  • Individuals with one dominant and one recessive allele are called "carriers."

🎯 Real-World Example

Think of recessive alleles like an undercover spy. If one spy (recessive allele) is alone, it can't do much. But when two spies meet (two recessive alleles), they carry out their mission: in this case, unfortunately, causing a disease.

What's Phenylketonuria (PKU)? 👶

  • A disease caused by a recessive allele.
  • The enzyme phenylalanine hydroxylase doesn't function correctly.
  • Leads to an accumulation of phenylalanine and a deficiency in tyrosine.

🎯 Real-World Example

PKU is like a garbage truck (enzyme) that's supposed to pick up your trash (phenylalanine) and convert it into something useful (tyrosine). If the garbage truck breaks down, the trash piles up and things get stinky (brain development issues).

Unlock the Full Content! File Is Locked Emoji

Dive deeper and gain exclusive access to premium files of Biology SL. Subscribe now and get closer to that 45 🌟