Location via proxy:   [ UP ]  
[Report a bug]   [Manage cookies]                
Scribd Logo
Upload

Welcome to Scribd!

  • 26 views

    Human Genetic Mutations: 2 Main Types of Mutations

    Uploaded by

    hasawan
    There are two main types of genetic mutations: chromosomal mutations and gene mutations. Chromosomal mutations involve changes in structure or number of chromosomes and can cause conditions like Down syndrome. Gene mutations are changes to a single gene's DNA sequence and can be point mutations, which substitute DNA bases, or frameshift mutations, which add or delete bases. Mutations cause defective proteins that can lead to diseases such as sickle cell anemia.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd

    Human Genetic Mutations: 2 Main Types of Mutations

    Uploaded by

    hasawan
    26 views10 pages
    There are two main types of genetic mutations: chromosomal mutations and gene mutations. Chromosomal mutations involve changes in structure or number of chromosomes and can cause conditions like Down syndrome. Gene mutations are changes to a single gene's DNA sequence and can be point mutations, which substitute DNA bases, or frameshift mutations, which add or delete bases. Mutations cause defective proteins that can lead to diseases such as sickle cell anemia.

    Original Title

    m1

    Copyright

    © Attribution Non-Commercial (BY-NC)

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    There are two main types of genetic mutations: chromosomal mutations and gene mutations. Chromosomal mutations involve changes in structure or number of chromosomes and can cause conditions like Down syndrome. Gene mutations are changes to a single gene's DNA sequence and can be point mutations, which substitute DNA bases, or frameshift mutations, which add or delete bases. Mutations cause defective proteins that can lead to diseases such as sickle cell anemia.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    26 views10 pages

    Human Genetic Mutations: 2 Main Types of Mutations

    Uploaded by

    hasawan
    There are two main types of genetic mutations: chromosomal mutations and gene mutations. Chromosomal mutations involve changes in structure or number of chromosomes and can cause conditions like Down syndrome. Gene mutations are changes to a single gene's DNA sequence and can be point mutations, which substitute DNA bases, or frameshift mutations, which add or delete bases. Mutations cause defective proteins that can lead to diseases such as sickle cell anemia.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    You are on page 1of 10

    Human Genetic Mutations

    2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations What are chromosomes? Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes are coiled up DNA. Under normal conditions all of the chromosomes are inherited in tact.

    Chromosomal Mutations Any change in the structure or number of chromosomes Large scale: Affect many genes 5 Types 1. Deletion 2. Duplication 3. Inversion 4. Translocation 5. Non-Disjunction Chromosomal Deletion

    A segment of genes is copied twice and added to the chromosome.

    Causes : CharcotMarieTooth disease (high arched foot, claw feet, confined to a wheelchair) Chromosomal Duplication

    A segment of genes is copied twice and added to the chromosome. Causes :CharcotMarieTooth disease (high arched foot, claw feet, confined to a wheelchair) Chromosomal Inversion

    Causes : Four-Ring Syndrome (cleft pallate, club feet, testes dont descend) Chromosomal Translocation

    Material is swapped with another chromosome Causes: Burkitts Lymphoma (cancer of the lymph nodes, in children) Nondisjunction Chromosomes FAIL TO SEPARATE during meiosis

    Meiosis I Nondisjunction Meiosis II Nondisjunction Produces gametes (and therefore a baby) with one missing chromosome or one extra chromosome Nondisjunction (in Meiosis II)

    Fertilization

    Every cell in that babys body will have 3 copies of this chromosome instead of 2. This condition is called TRISOMY Trisomy 21 = Individual has 3 copies of chromosome # 21. Chromosomal Mutations Most chromosomal mutations are lethal If the fetus survives: Tend to cause wide-spread abnormalities Example: Down Syndrome Down Syndrome Cause: Nondisjunction of chromosome 21Three copies of chromosome 21 = TRISOMY 21 Trisomy 21 - Down Syndrome

    Genetic Screening Amniocentesis

    Gene Mutations Small scale: one gene is affected Any change to the DNA sequence of a gene:

    Nucleotides/Bases may be added, missing, or changed Gene Mutations: 2 Types Point Mutation

    Frameshift Mutation

    Point Mutation One base (A, T, C, or G) is substituted for another Causes: Sickle-cell anemia 3 Possible Consequences: nonsense mutations: code for a stop, which can translate the protein missense mutations: code for a different amino acid silent mutations: code for the same amino acid Frameshift Mutation One or more bases (A, T, C, or G) are added or deleted Causes: Cystic Fibrosis Caused by: Insertion: adding a base Deletion: removing a base Causes of Mutations spontaneous

    occur during DNA replication Caused by MUTAGENS physical, ex: radiation from UV rays, X-rays or extreme heat or chemical (molecules that misplace base pairs or disrupt the helical shape of DNA). Gene Mutations KEY IDEA: A mutated gene will make a mutated protein Mutant proteins are trouble! They do not go where they are supposed to go Example: Sickle Cell Anemia Normal Red Blood Cell Red blood cells shaped like a disc Hemoglobin (protien) carries oxygen to all parts of the body Sickle Red Blood Cell

    Red blood cells form an abnormal crescent shape Hemoglobin (protein) is abnormally shaped don't move easily through your blood vessels

    form clumps and get stuck in the blood vessels

    SIGNAL TRANSDUCTION Cell-Cell Interactions For a coordinated function of cells in a tissue, tissues in an organ, organs in a system and systems in the body, cells need to be able to communicate with each other. Each cell should be capable of sending chemical signals to other cells and of receiving chemical signals from other cells, as well as signals (chemical or other) from its immediate environment. A cell can communicate signals to other cells in various ways. 1. Autocrine signaling 2. Paracrine signaling 3. Endocrine signaling 4. Direct signaling 5. Synaptic signaling Autocrine signaling is a way for a cell to alter its own extracellular environment, which in turn affects the way the cell functions. The cell secretes chemicals outside of its membrane and the presence of those chemicals on the outside modifies the behavior of that same cell. This process is important for growth. Paracrine signaling Is a way for a cell to affect the behavior of neighboring cells by secreting chemicals into the common intercellular space. This is an important process during embryonic development.

    Endocrine signaling utilizes hormones. A cell secretes chemicals into the bloodstream. Those chemicals affect the behavior of distant target cells. Direct signaling is a transfer of ions or small molecules from one cell to its neighbor through pores in the membrane. Those pores are built out of membrane proteins and are called gap junctions. This is the fastest mode of cell-cell communication and is found in places where extremely fast and well-coordinated activity of cells in needed. An example of this process can be found in the heart. The muscle cells in the heart communicate with each other via gap junctions which allows all heart cells to contract almost simultaneously.

    Synaptic signaling is found in the nervous system. It is a highly specific and localized type of paracrine signaling between two nerve cells or between a nerve cell and a muscle cell.

    Target cells

    Specific cells are affected by hormone and respond in unique fashion: Cells have specific receptors on membrane or in cell that respond to hormone Can have receptors for several different hormones Number of active receptors can change Down-regulation - number of receptors decreases & target is less sensitive Up-regulation- number increases & target is more sensitive How does a cell receive a signal? Some small molecules are capable of entering the cell through the plasma membrane. Some small hormones also enter the cell directly, by passing through the membrane. Examples are steroid hormones and thyroid hormones.

    You might also like