"Mutation"의 두 판 사이의 차이
| 6번째 줄: | 6번째 줄: | ||
**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 | + | *[[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-> | ||
**[[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 | ||
2016년 7월 8일 (금) 18:23 판
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
- 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.
- Splice site mutation -> retained intron in the mRNA protein with impaired or altered function.