This type of question appears often in the Edexcel IAL Biology exams.

Описание: This is a short section from the Edexcel IAL Biology course of unit 1 .
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🧬 Understanding Mutations and Their Impact on Proteins! 🧬
Hey #BioLovers! 🌿 Let's dive into the fascinating world of genetic mutations and their effects on proteins, crucial for Edexcel IAL Biology students.
🔍 What are Mutations?
• Mutations are changes in the base sequence of a gene, leading to alterations in protein structure and function. They can be caused by external factors like radiation or occur during DNA replication. 🧪
📚 Types of Mutations:
1. Substitution Mutations:
▪ One base is swapped for another (e.g., AATCGG ➡️ AAGCGG).
▪ Often, they don't affect the protein's final structure due to the degenerate nature of the genetic code. Some are silent, causing no change in amino acids. 🤫
2. Frameshift Mutations:
▪ Involve insertions or deletions, disrupting the codons and significantly affecting protein structure.
▪ They can introduce stop codons, halting protein synthesis prematurely. 🚫
🌀 Cystic Fibrosis: A Case Study
• Caused by a mutation in the CFTR gene, which codes for a protein channel regulating mucus composition.
• Normally, CFTR allows chloride ions to move out of cells, balancing sodium ions and water potential.
• In cystic fibrosis, the mutation prevents chloride movement, leading to thick mucus that's hard to clear. This affects organs like the lungs and pancreas. 🌬️
Understanding these mutations helps us appreciate the complexity and precision of genetic coding. Keep exploring and stay curious! 🔬✨
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