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    the dna sequence reads acgttcatt before a mutation occurs. after the mutation, the dna sequence reads atcgttcatt. which type of mutation occurred? substitution insertion deletion point


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    DNA Mutations Flashcards

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    DNA Mutations

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    Which best describes somatic mutations?

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    They can cause different kinds of cancer.

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    Which is a point mutation?

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    Terms in this set (10)

    Which best describes somatic mutations?

    They can cause different kinds of cancer.

    Which is a point mutation?


    A base sequence reads AAGTCG before a mutation. Which could be the base after a frameshift mutation occurs?


    The DNA sequence reads ACGTTCATT before a mutation occurs. After the mutation, the DNA sequence reads ATCGTTCATT. Which type of mutation occurred?


    Which type of mutation causes sickle cell anemia?


    Which type of mutation occurs in reproductive cells and can be passed to offspring?

    germline mutations

    A point mutation changes the DNA sequence CGA to CGT, but the same protein is still produced. Which point mutation occurred?


    Which type of mutation always creates a stop codon?


    Why is UVA light considered a mutagen?

    It penetrates the skin and can cause mutations.

    Which type of mutation cannot occur in a child after birth?

    germline mutation

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    DNA Mutation and Repair

    DNA Mutation and Repair

    A mutation, which may arise during replication and/or recombination, is a permanent change in the nucleotide sequence of DNA. Damaged DNA can be mutated either by substitution, deletion or insertion of base pairs. Mutations, for the most part, are harmless except when they lead to cell death or tumor formation. Because of the lethal potential of DNA mutations cells have evolved mechanisms for repairing damaged DNA.

    Types of Mutations

    There are three types of DNA Mutations: base substitutions, deletions and insertions.

    Single base substitutions are called point mutations, recall the point mutation Glu -----> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.

    Transition: this occurs when a purine is substituted with another purine or when a pyrimidine is substituted with another pyrimidine.Transversion: when a purine is substituted for a pyrimidine or a pyrimidine replaces a purine.

    Point mutations that occur in DNA sequences encoding proteins are either silent, missense or nonsense.

    Silent: If abase substitution occurs in the third position of the codon there is a good chance that a synonymous codon will be generated. Thus the amino acid sequence encoded by the gene is not changed and the mutation is said to be silent.Missence: When base substitution results in the generation of a codon that specifies a different amino acid and hence leads to a different polypeptide sequence. Depending on the type of amino acid substitution the missense mutation is either conservative or nonconservative. For example if the structure and properties of the substituted amino acid are very similar to the original amino acid the mutation is said to be conservative and will most likely have little effect on the resultant proteins structure / function. If the substitution leads to an amino acid with very different structure and properties the mutation is nonconservative and will probably be deleterious (bad) for the resultant proteins structure / function (i.e. the sickle cell point mutation).Nonsense: When a base substitution results in a stop codon ultimately truncating translation and most likely leading to a nonfunctional protein.

    A deletion, resulting in a frameshift, results when one or more base pairs are lost from the DNA (see Figure above). If one or two bases are deleted the translational frame is altered resulting in a garbled message and nonfunctional product. A deletion of three or more bases leave the reading frame intact. A deletion of one or more codons results in a protein missing one or more amino acids. This may be deleterious or not.

    The insertion of additional base pairs may lead to frameshifts depending on whether or not multiples of three base pairs are inserted. Combinations of insertions and deletions leading to a variety of outcomes are also possible.

    Causes of MutationsErrors in DNA Replication

    On very, very rare occasions DNA polymerase will incorporate a noncomplementary base into the daughter strand. During the next round of replication the missincorporated base would lead to a mutation. This, however, is very rare as the exonuclease functions as a proofreading mechanism recognizing mismatched base pairs and excising them.

    Errors in DNA Recombination

    DNA often rearranges itself by a process called recombination which proceeds via a variety of mechanisms. Occasionally DNA is lost during replication leading to a mutation.

    Chemical Damage to DNA

    Many chemical mutagens, some exogenous, some man-made, some environmental, are capable of damaging DNA. Many chemotherapeutic drugs and intercalating agent drugs function by damaging DNA.


    Gamma rays, X-rays, even UV light can interact with compounds in the cell generating free radicals which cause chemical damage to DNA.

    DNA Repair

    Damaged DNA can be repaired by several different mechanisms.

    Sometimes DNA polymerase incorporates an incorrect nucleotide during strand synthesis and the 3' to 5' editing system, exonuclease, fails to correct it. These mismatches as well as single base insertions and deletions are repaired by the mismatch repair mechanism. Mismatch repair relies on a secondary signal within the DNA to distinguish between the parental strand and daughter strand, which contains the replication error. Human cells posses a mismatch repair system similar to that of E. coli, which is described here. Methylation of the sequence GATC occurs on both strands sometime after DNA replication. Because DNA replication is semi-conservative, the new daughter strand remains unmethylated for a very short period of time following replication. This difference allows the mismatch repair system to determine which strand contains the error. A protein, MutS recognizes and binds the mismatched base pair.

    Another protein, MutL then binds to MutS and the partially methylated GATC sequence is recognized and bound by the endonuclease, MutH. The MutL/MutS complex then links with MutH which cuts the unmethylated DNA strand at the GATC site. A DNA Helicase, MutU unwinds the DNA strand in the direction of the mismatch and an exonuclease degrades the strand. DNA polymerase then fills in the gap and ligase seals the nick. Defects in the mismatch repair genes found in humans appear to be associated with the development of hereditary colorectal cancer.

    Source : www2.csudh.edu

    What kinds of gene variants are possible?: MedlinePlus Genetics

    There are several types of genetic variants (or mutations). Learn more about the types of variants and how they affect gene function and health.

    What kinds of gene variants are possible?

    The DNA sequence of a gene can be altered in a number of ways. Gene variants (also known as mutations) can have varying effects ­­on health, depending on where they occur and whether they alter the function of essential proteins. Variant types include the following:


    This type of variant replaces one DNA building block (nucleotide) with another. Substitution variants can be further classified by the effect they have on the production of protein from the altered gene.

    Missense:A missense variant  is a type of substitution in which the nucleotide change results in the replacement of one protein building block (amino acid) with another in the protein made from the gene. The amino acid change may alter the function of the protein.Nonsense: A nonsense variant  is another type of substitution. Instead of causing a change in one amino acid, however, the altered DNA sequence results in a stop signal that prematurely signals the cell to stop building a protein. This type of variant results in a shortened protein that may function improperly, be nonfunctional, or get broken down.Insertion

    An insertion changes the DNA sequence by adding one or more nucleotides to the gene. As a result, the protein made from the gene may not function properly.


    A deletion changes the DNA sequence by removing at least one nucleotide in a gene. Small deletions remove one or a few nucleotides within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the affected protein or proteins.


    This variant occurs when a deletion and insertion happen at the same time in the same location in the gene. In a deletion-insertion variant, at least one nucleotide is removed and at least one nucleotide is inserted. However, the change must be complex enough to differ from a simple substitution. The resulting protein may not function properly. A deletion-insertion (delins) variant may also be known as an insertion-deletion (indel) variant.


    A duplication occurs when a stretch of one or more nucleotides in a gene is copied and repeated next to the original DNA sequence. This type of variant may alter the function of the protein made from the gene.


    An inversion changes more than one nucleotide in a gene by replacing the original sequence with the same sequence in reverse order.


    A reading frame consists of groups of three nucleotides that each code for one amino acid. A frameshift variant occurs when there is an addition or loss of nucleotides that shifts the grouping and changes the code for all downstream amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplications can all be frameshift variants.

    Repeat expansion

    Some regions of DNA contain short sequences of nucleotides that are repeated a number of times in a row. For example, a trinucleotide repeat is made up of sequences of three nucleotides, and a tetranucleotide repeat is made up of sequences of four nucleotides. A repeat expansion is a variant that increases the number of times that the short DNA sequence is repeated. This type of variant can cause the resulting protein to function improperly.

    For more information about the types of gene variants:

    The National Human Genome Research Institute offers a Talking Glossary of Genetic Terms. This resource includes definitions, diagrams, and detailed audio descriptions of several of the gene variants listed above.

    A brief explanation of different variants types is available from yourgenome.org, a service of the Wellcome Trust.

    The Khan Academy has a video describing the different types of gene variants.

    Topics in the Variants and Health chapter

    What is a gene variant and how do variants occur?

    How can gene variants affect health and development?

    Do all gene variants affect health and development?

    What kinds of gene variants are possible?

    Can a change in the number of genes affect health and development?

    Can changes in the number of chromosomes affect health and development?

    Can changes in the structure of chromosomes affect health and development?

    Can changes in noncoding DNA affect health and development?

    Can changes in mitochondrial DNA affect health and development?

    What are complex or multifactorial disorders?

    What does it mean to have a genetic predisposition to a disease?

    How are gene variants involved in evolution?

    What information can statistics provide about a genetic condition?

    How are genetic conditions and genes named?

    Other chapters in Help Me Understand Genetics

    The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

    Source : medlineplus.gov

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