• Short Story Time!: Imagine trying to read a book, but suddenly, a bunch of letters are added or removed from a sentence. It'd make no sense, right? That's what happens with major insertions and deletions in our genes. 📚🔀

• Insertions/Deletions and Polypeptides

  • Major insertions or deletions: Usually make the coded polypeptide go 🚫🤪 (non-functional).
  • Minor insertions or deletions (1 or 2 nucleotides): Still a disaster! They cause "frameshift mutations", changing how we read every codon after the mutation. It's like reading the book but dropping or adding a letter in every word after a certain point.
  • But, what if insertions or deletions are of a multiple of three nucleotides? They're not frameshift mutations, but can still be troublemakers. Imagine adding or removing a chapter from your favorite book, the story changes quite a bit!

Real-world example: Say we're making a pizza 🍕. Removing or adding an ingredient can change the entire taste. That’s like insertions and deletions affecting the protein’s function!

• Function: This gene codes for the BRCA1 protein, acting like a DNA repair toolkit. Fixes things like a handyman fixing a leaky roof.
• But what if it mutates? 🙁: More risk of other mutations because it can't fix DNA anymore! This is like if your roof has a hole, and your repairman forgets how to fix it. Bad news: Increased risk of cancers, especially breast, ovarian, and prostate.
• Variants (or flavors): There are 20,000+ versions of this gene, some harmless, some not. Some of them increase the risk of breast cancer by up to a whopping 80%.