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Changes to the Genetic Code. pp. 224-226 and 231. Alterations to the Code. A change in one or many genetic traits Can be either 1) chromosomal or 2) a gene mutation Can happen in gametes or body cells If the change occurs in the gametes the trait can be inherited by the offspring
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Changes to the Genetic Code pp. 224-226 and 231
Alterations to the Code • A change in one or many genetic traits • Can be either 1) chromosomal or 2) a gene mutation • Can happen in gametes or body cells • If the change occurs in the gametes the trait can be inherited by the offspring • Can be lethal (deadly) even before birth • Typically, changes in the body cells could result in cancer
Chromosomal Alterations • More than 1 trait can be affected since whole segments of DNA can be altered
Deletion • loss of a piece of chromosome
Inversion • Chromosome breaks off and reattaches in reverse EX. Hemophilia
Translocation • Piece breaks off and attaches to another
Gene Mutations • A change in the genetic code of one gene • Typically only one trait is affected
Types of Mutations • Silent: a normal protein is still made • Missense: faulty protein produced • Nonsense: an incomplete protein is made due to an early stop
Causes of the Mutations • Results from a substitution, addition, or removal of a nucleotide • Also called a point mutation
Frame shift mutation • Due to the removal or addition of a nucleotide • Causes shift in entire reading frame and results in an entirely different protein (missense) or no protein due to an early stop (nonsense)
Substitution • Makes a new codon that could result in the same amino acid (silent mutation) • A new codon can also result in an early stop (nonsense) • The structure of the protein can be altered if a different amino acid is made (missense) EX. Sickle cell anemia
What is Sickle Cell Anemia? • A blood disorder with abnormal hemoglobin
What is Hemoglobin? • Hemoglobin is a protein found in red blood cells • Hemoglobin is made up of 4 polypeptide subunits • Hemoglobin carries oxygen which is needed in body tissues
What happens when the HBB gene is mutated? Individuals with sickle cell anemia are homozygous for the “sickle” allele of hemoglobin β (i.e., HSHS) Individuals with one working allele and one “sickle” allele (i.e., HAHS) are heterozygous carriers and have limited symptoms
The problem is that the hemoglobin tetramers made with HbS beta-globin are “sticky” and clump to form long fibers. These long fibers cause the red blood cell to have a sickle shape.
Genotype Phenotype Hemoglobin protein Red blood cell Person
Genotype (HbA/HbA) Phenotype Hemoglobin protein Red blood cell Person Normal tetramers Normal in shape (donut) and number Normal
Genotype (HbS/HbS) Phenotype Hemoglobin protein Red blood cell(RBC) Person Tetramers stick together and form long fibers Abnormal shape (sickle), fewer RBCs Sickle cell anemia