"Mutation"의 두 판 사이의 차이
(새 문서: 분류:Biochemistry 돌연변이(Mutation)은 nucleotide sequence의 변화를 말한다. ==분류== *Point mutations((silent, missense, and nonsense) **Transition: purine t...) |
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| 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]]: 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]]: 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]]: 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]]: 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: Mutation at a splice site 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 at a splice site 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) 23:55 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: Nucleotide substitution but codes for same(synonymous) amino acid; often base change
in 3rd position of codon (tRNA wobble).
- Missense: 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: 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.
- Splice site: Mutation at a splice site retained intron in the mRNA protein with impaired or altered function. Rare cause of cancers, dementia, epilepsy, some types of β-thalassemia.