"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]]: Nucleotide substitution but codes for same(synonymous) amino acid; often base change | + | *[[Silent mutation]]: Nucleotide substitution but codes for same(synonymous) amino acid; often base change |
in 3rd position of codon (tRNA wobble). | in 3rd position of codon (tRNA wobble). | ||
| − | *[[Missense]]: Nucleotide substitution->changed 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]]) | **[[Sickle cell disease]](substitution of [[glutamic acid]] with [[valine]]) | ||
| − | *[[Nonsense]]: Nucleotide substitution -> early stop codon. -> usually nonfunctional protein | + | *[[Nonsense mutation]]: Nucleotide substitution -> early stop codon. -> usually nonfunctional protein |
| − | *[[Frameshift]]: 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]] | ||
| − | *Splice site | + | *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. | ||
2016년 5월 31일 (화) 23:58 판
돌연변이(Mutation)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 substitution but codes for same(synonymous) amino acid; often base change
in 3rd position of codon (tRNA wobble).
- 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
- 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.