"Mutation"의 두 판 사이의 차이

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)
- Sickle cell disease(substitution of glutamic acid with valine)
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.
- Duchenne muscular dystrophy, Tay-Sachs disease
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.

@@ 1번째 줄: / 1번째 줄: @@
 [[분류:Biochemistry]]
-[[돌연변이]](Mutation)은 [[nucleotide]] sequence의 변화를 말한다.
+[[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).
+**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 substitution but codes for same(synonymous) amino acid; often base change
+*[[Silent mutation]]: Nucleotide substitution이 있지만 같은 amino acid의 코드; often base change in 3rd position of codon ([[tRNA wobble]]).
-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->changed amino acid (called conservative if new amino acid is similar in chemical structure)
 **[[Sickle cell disease]](substitution of [[glutamic acid]] with [[valine]])
 *[[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.
 **[[Duchenne muscular dystrophy]], [[Tay-Sachs disease]]