Using DNA sequencing, it is possible to figure out which person is different from the normal, how much different, and if they have a disease because of these differences.
ABBY - only had one difference from the normal. GAG to GTG
This is a simple point mutation (single change in DNA)
This changes the protein in Abby to VAL (The normal is GLU)
*GLU is very positively charged, VAL is VERY hydrophobic. -- this change is caused in cystic fibrosis.
Therefore, the protein might not fold correctly.. or in other words she COULD have some issues with this change in her DNA.
BOB - only had one difference from the normal. AAG --> TAG
His protein went from LYS --> STOP.
(stop literarily means the end of the protein, it stops making it)
This would be called truncation mutation. (the shortage of the protein itself)
His protein would be 3 amino acids short! :/
This would probably cause him some problems!
CAROL - (very different from the normal, you can tell this by looking below at the graph!)
She had 14 differences, which caused a low percent similarity.
The sequences are still there, she just had some sort of a deletion
NORMAL - ACT CCT GAG
CAROL - ACC CTG AGG
This is called a reading frame --> frameshift mutation.
This causes her proteins to be VERY different!!
*ALL OF THIS HAPPENS IN CELL DIVISION.
"99% of mutations have NO effect what so ever" - Mr. Ludwig
I believe the disease risk for Abby is pretty low but probably a little higher then Bob's. On the other hand, Carol will most likely have a disease risk because of how many changes she experienced!
P.S. This is probably my best post so far :D
I should work harder on this.
