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    Mutations: What Is A Mutation?

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    Miriam Du Baltazar
    This document discusses mutations, which are changes in DNA that can be inherited or caused by environmental factors. There are several types of mutations including point mutations, insertions, deletions, and frame shifts. Specific genetic disorders result from certain mutations, such as sickle cell anemia from a point mutation and cystic fibrosis from a defective gene. Mutations can also occur during cell division through errors in meiosis or mitosis, sometimes resulting in an extra chromosome like Trisomy 21 which causes Down syndrome. The document provides examples of genetic disorders and their associated mutations.

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    Mutations: What Is A Mutation?

    Uploaded by

    Miriam Du Baltazar
    55 views4 pages
    This document discusses mutations, which are changes in DNA that can be inherited or caused by environmental factors. There are several types of mutations including point mutations, insertions, deletions, and frame shifts. Specific genetic disorders result from certain mutations, such as sickle cell anemia from a point mutation and cystic fibrosis from a defective gene. Mutations can also occur during cell division through errors in meiosis or mitosis, sometimes resulting in an extra chromosome like Trisomy 21 which causes Down syndrome. The document provides examples of genetic disorders and their associated mutations.

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    Mutations

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    This document discusses mutations, which are changes in DNA that can be inherited or caused by environmental factors. There are several types of mutations including point mutations, insertions, deletions, and frame shifts. Specific genetic disorders result from certain mutations, such as sickle cell anemia from a point mutation and cystic fibrosis from a defective gene. Mutations can also occur during cell division through errors in meiosis or mitosis, sometimes resulting in an extra chromosome like Trisomy 21 which causes Down syndrome. The document provides examples of genetic disorders and their associated mutations.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    55 views4 pages

    Mutations: What Is A Mutation?

    Uploaded by

    Miriam Du Baltazar
    This document discusses mutations, which are changes in DNA that can be inherited or caused by environmental factors. There are several types of mutations including point mutations, insertions, deletions, and frame shifts. Specific genetic disorders result from certain mutations, such as sickle cell anemia from a point mutation and cystic fibrosis from a defective gene. Mutations can also occur during cell division through errors in meiosis or mitosis, sometimes resulting in an extra chromosome like Trisomy 21 which causes Down syndrome. The document provides examples of genetic disorders and their associated mutations.

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    What is a mutation?

    „ Any change in DNA


    „ Any abnormal change in genetic material.
    Mutations Some can be inherited by the next
    generation.
    The process by which the sequence
    of base pairs in a DNA molecule is
    altered.
    Remember that genes are located in DNA!!!

    What causes a mutation? Types of mutations


    1.) Changes in the environment OR „ Point mutations
    mutagens small (but significant) changes, often in
    a. ultraviolet radiation a single nucleotide base.
    b. pollutants and chemicals „ Deletions
    c. tar from tobacco
    remove information from the gene. A
    deletion could be as small as a single base
    2.) Errors during replication, transcription, or as large as the gene itself.
    or translation

    Types of mutations Guess which type of mutation..


    „ Insertions Normal:
    occur when extra DNA is added into an As the man saw the dog hit the can end it is
    existing gene.

    As the man saw the doT hit the can end


    „ Frame Shift
    when either addition or deletion of one or two Point mutation
    nucleotide bases. When this occurs, the “reading
    frame” is changed so that all the codons read As the man saw thehit the can end
    after the mutation are incorrect.
    deletion

    1
    Guess which type of mutations… Disorders that result from mutations
    As the man saw the FAT dog hit the can end „ Sickle Cell Anemia
    insertation „ PKU
    „ Cystic Fibrosis
    As the man saw the ogh itt hec ane nd it is
    frameshift

    SICKLE CELL ANEMIA Phenylketonuria (PKU)


    „ Sickle cell anemia is a hereditary disease „ Inherited disorder that causes a lack of the
    that causes red blood cells to be shaped enzyme that metabolizes phenylalanine
    like moons. (an amino acid).
    „ It is due to a single nucleotide sibstitution. „ Results in a build up of phenylalanine and
    „ This results in a single amino acid effect the central nervous system.
    substitution in the hemogloblin molecule.

    CYSTIC FIBROSIS How else do mutations occur?


    „ Affect mucus and sweat glands of the body „ Errors can occur in the processes of Mitosis or
    meiosis
    and is caused by a defective gene. „ This is NOT hereditary…. Its just a mistake in
    „ Thick mucus is formed in the breathing procedure!!
    passages of the lungs
    „ This is called NONDISJUNCTION
    „ Predisposes the person to chronic lung
    infections „ The chromosomes fail to separate so you get
    some homologous chromosomes migration over
    together instead of separating.

    2
    „ If this happens you get sex cells like this: „ When the egg and sperm cell come
    together ….
    „ sperm cellegg cell
    „ You get a baby with 47 chromosomes!
    24 „ All the homologous chromosomes pair up
    23 chromosomes
    chromosomes and but you get one group of 3!

    Where is the extra chromosome?


    „ Example:

    „ Trisomy 21 (Down’s syndrome)


    „ Person will develop ALL cells with 47
    chromosomes….they will have 3
    chromosome # 21

    Edwards Syndrome
    „ It is like they stop developing …. „ holes in the heart that don't close
    „ their brains are not properly developed „ openings in the back (spina bifida) and
    certain neurons don't make it all the way to stomach (omphalocele)
    the outside of the brain but remain in little clusters
    throughout the brain. „ organs that are not properly formed.
    This means that they will frequently have „ Additionally, Trisomy 18 babies are usually
    problems doing basic, instinctive, functions like small, as if they stopped developing and
    sucking, swallowing, and breathing. growing about the 7th month in utero.

    3
    4

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