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A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. One can categorize point mutations as follows:



Transition mutations are about an order of magnitude more common than transversions. Point mutations can also be categorized functionally:



For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GTG, which encodes the amino acid valine rather than glutamic acid.

Point mutations that occur in non-coding sequences are most often without consequences, although there are exceptions. If the mutated base pair is in the promoter sequence of a gene, then the expression of the gene may change. Also, if the mutation occurs in the splicing seat of an intron, then this may interfere with correct splicing of the transcribed pre-mRNA.

Sometimes the term point mutation is also used to describe insertion (genetics) or deletions of a single base pair (which has more of an adverse effect on the synthesized protein due to the nucleotides' still being read in triplets, but in different frames: a mutation called a frameshift mutation).

Causes Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased by mutagens. Mutagens can be physical, such as radiation from ultraviolet light, X-rays or extreme heat, or chemical (molecules that misplace base pairs or disrupt the helical shape of DNA). Mutagens associated with cancers are often studied to learn about cancer and its prevention.

External links

A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. One can categorize point mutations as follows:



Transition mutations are about an order of magnitude more common than transversions. Point mutations can also be categorized functionally:



For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GTG, which encodes the amino acid valine rather than glutamic acid.

Point mutations that occur in non-coding sequences are most often without consequences, although there are exceptions. If the mutated base pair is in the promoter sequence of a gene, then the expression of the gene may change. Also, if the mutation occurs in the splicing seat of an intron, then this may interfere with correct splicing of the transcribed pre-mRNA.

Sometimes the term point mutation is also used to describe insertion (genetics) or deletions of a single base pair (which has more of an adverse effect on the synthesized protein due to the nucleotides' still being read in triplets, but in different frames: a mutation called a frameshift mutation).

Causes Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased by mutagens. Mutagens can be physical, such as radiation from ultraviolet light, X-rays or extreme heat, or chemical (molecules that misplace base pairs or disrupt the helical shape of DNA). Mutagens associated with cancers are often studied to learn about cancer and its prevention.

External links



Point mutation - Wikipedia, the free encyclopedia
A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide.

Mutation - Wikipedia, the free encyclopedia
A point mutation, or substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. Often the term point mutation also includes ...

Definition: point mutation from Online Medical Dictionary
The Online Medical Dictionary is a searchable dictionary of definitions from medicine, science and technology.

Introduction to Human Genetics: Mutation
Mutation. Mutation is the alteration of DNA sequence, whether it be in a small way by the alteration of a single base pair, or whether it be a gross event such as the gain or loss ...

Glasgow ePrints Service - A point mutation leading to hepatitis C ...
A challenge in hepatitis C virus vaccine development is defining conserved protective epitopes. A cluster of these epitopes comprises an immunodominant domain on the E2 ...

Point Mutation
Encyclopedia information on Point Mutation ... Point Mutation. A point mutation is a particular type of mutation that is responsible for the replacement of a single base nucleotide ...

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome
MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome David J. Bunyan 1,2, T Brown 3, R Wycherley 2, JC Score 2, JF Harvey 1,2, NCP Cross 1,2. 1 National Genetics ...

e-Prints Soton - MLPA-based point mutation analysis of the FBN1 gene ...
The Multiplex Ligation-depandant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant ...

e-Prints Soton - Simultaneous MLPA-based multiplex point mutation and ...
The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method of choice for the initial mutation screen in the analysis of a large number of genes where partial ...

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