행위

"Mutation"의 두 판 사이의 차이

 
(같은 사용자의 중간 판 2개는 보이지 않습니다)
4번째 줄: 4번째 줄:
 
==분류==
 
==분류==
 
*[[Point mutations]]((silent, missense, and nonsense)
 
*[[Point mutations]]((silent, missense, and nonsense)
**Transition: purine to purine (eg, A to G) or pyrimidine to pyrimidine (eg, C to T).
+
**Transition: [[purine]] to [[purine]] (eg, A to G) or pyrimidine to pyrimidine (eg, C to T).
**Transversion: purine to pyrimidine (eg, A to T) or pyrimidine to purine (eg, C to G).
+
**Transversion:[[purine]] to [[pyrimidine]] (eg, A to T) or pyrimidine to purine (eg, C to G).
*[[Silent mutation]]: Nucleotide substitution이 있지만 같은 amino acid의 코드; often base change in 3rd position of codon (tRNA wobble).
+
*[[Silent mutation]]: Nucleotide substitution이 있지만 같은 amino acid의 코드; often base change in 3rd position of codon ([[tRNA wobble]]).
 
*[[Missense mutation]]: Nucleotide substitution -> 다른 amino acid (called conservative if new amino acid is similar in chemical structure)
 
*[[Missense mutation]]: Nucleotide substitution -> 다른 amino acid (called conservative if new amino acid is similar in chemical structure)
 
**[[Sickle cell disease]](substitution of [[glutamic acid]] with [[valine]])
 
**[[Sickle cell disease]](substitution of [[glutamic acid]] with [[valine]])
 
*[[Nonsense mutation]]: Nucleotide substitution -> early stop codon. -> usually nonfunctional protein  
 
*[[Nonsense mutation]]: Nucleotide substitution -> early stop codon. -> usually nonfunctional protein  
 +
**[[Hemophilia]](Factor VIII)
 
*[[Frameshift mutation]]: Deletion or insertion of a number of nucleotides not divisible by 3 ->misreading of all nucleotides downstream. Protein may be shorter or longer, and its function may be disrupted or altered.  
 
*[[Frameshift mutation]]: Deletion or insertion of a number of nucleotides not divisible by 3 ->misreading of all nucleotides downstream. Protein may be shorter or longer, and its function may be disrupted or altered.  
 
**[[Duchenne muscular dystrophy]], [[Tay-Sachs disease]]
 
**[[Duchenne muscular dystrophy]], [[Tay-Sachs disease]]

2016년 7월 8일 (금) 18:44 기준 최신판

돌연변이(Mutation, 변이)은 nucleotide sequence의 변화를 말한다.

분류

  • Point mutations((silent, missense, and nonsense)
    • Transition: purine to purine (eg, A to G) or pyrimidine to pyrimidine (eg, C to T).
    • Transversion:purine to pyrimidine (eg, A to T) or pyrimidine to purine (eg, C to G).
  • Silent mutation: Nucleotide substitution이 있지만 같은 amino acid의 코드; often base change in 3rd position of codon (tRNA wobble).
  • Missense mutation: Nucleotide substitution -> 다른 amino acid (called conservative if new amino acid is similar in chemical structure)
  • Nonsense mutation: Nucleotide substitution -> early stop codon. -> usually nonfunctional protein
  • Frameshift mutation: Deletion or insertion of a number of nucleotides not divisible by 3 ->misreading of all nucleotides downstream. Protein may be shorter or longer, and its function may be disrupted or altered.
  • 기타
    • Splice site mutation -> retained intron in the mRNA protein with impaired or altered function.
      • Rare cause of cancers, dementia, epilepsy, some types of β-thalassemia.