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LD BIO CH 27

LD BIO CH 27 MUTATIONS/DISORDERS

TermDefinition
MUSCULAR DYSTOPHY Sex linked disorder where muscle tissue is broken down.
KLINEFELTER SYNDROME XXY sterile male
DOWN SYNDROME Extra chromosome 21, causes mental retardation
PHENYLKETONURIA (PKU) recessive inherited disorder where an enzyme is missing that breaks down phenylalanine, which can cause mental retardation. Can be tested in urine when an infant and a special diet can prevent brain damage.
SICKLE-CELL ANEMIA Recessive inherited disorder that affects the shape of RBC so that they are unable to carry oxygen.
HEMOPHILIA Sex linked disorder where blood is unable to clot.
HUNTINGTON'S DISEASE Caused by a dominant allele shows up when person is in their 30's, breakdown of brain cells leading to death.
CYSTIC FIBROSIS Most common fatal genetic disease in US - production of a thick mucus clogs and damages lungs
TURNER SYNDROME X sterile female
TAYSACHS DISEASE Lacks an enzyme that breaks down lipids in the brain usually occurs in Jewish families of Eastern Europe descent.
SOURCES OF VARIATION IN AN OFFSPRING Sexually reproducing, Crossing Over, Lining in metophase, and Mutations
EFFECTS OF VARIATION IN EVOLUTION Sexually reproducing offspring cause more variation, asexual is same every time
MUTATION The appearance of new allele on a chromosome. Sudden change, Most harm, Some no effect & Some beneficial
MUTANT First individual showing that new trait.
HUGO DEVRIES Developed concept of mutation when studying the primrose plant.
MUTATIONS INHERITED BY OFFPSRING Can occur in the DNA of a gamete, Somatic or body cell mutations will not be inherited, & can only be passed to other body cells.
MUTATION CAUSES Nature - random errors in replication of DNA & Mutagenic agents - factors from the environment that cause mutations
MUTAGENIC AGENTS Xrays, Ultraviolet light (sun), radioactive substances (uranium), cosmic rays (energy from space), chemicals (formaldehyde), asbestos fibers, drugs (LSD, marijuana & alcohol)
KINDS OF MUTATIONS Chromosomal - change in the structure of chromosomes or in number Gene - a change that affects a gene on a chromosome
CHROMOSOME MUTATIONS Addition, Deletion, Translocation, Inversion, Nondisjuction & Polyplody
ADDITIONS Duplications - has an extra piece of homologous chromosomes
DELETIONS Missing a piece of a homologous chromosome
TRANSLOCATION Chromosome breaks out of and attaches to a non-homologous chromosome.
INVERSION Piece of chromosome reversed (rotated)
NONDISJUNCTION Chromosome pairs don't separate causing mutations (ex: down syndrome)
POLYPLODY Chromosome fail to separate. Gametes contain twice # of normal chromosome. Fatal in animals, Breeders use chemicals in plants which increase fruit size, wheat & flowers.
GENE SEQUENCE Change in base sequence
POINT MUTATION Change in one nucleotide. Affects oxygen-carrying capacity in red blood cells.
SUBSTITUTION One base subbed for another
KAROTYPE A cell undergoing mitosis is photographed and this technique is used to detect chromosomal abnormalities
CLONE A group of genetically identical organisms produced by the division of a single cell.
PEDIGREE CHART A diagram that show the presence or absence of a single trait.
MUTAGENS Factors in the environment that cause mutations.
PLASMID Circular segments of DNA found in bacteria
RECOMBINANT DNA DNA altered by genetic engineering
ULTRASOUND Uses sound waves reflected off of fetus to create an image of growing fetus.
AMNIOCENTESIS Amniotic fluid is removed which contains cells of the fetus for analysis either chemically or by karotyping.
CHORIONIC VILLUS SAMPLING Invasive - takes some of the chorion which has cells genetically identical to the developing fetus.
FETOSCOPY Invasive - uses a camera inserted by needle into the uterus. Takes pictures, skin tissues samples, blood from the umbilical cord to test for hemophilia or sickle anemia, evaluate the fetus for birth defects, such as spina bifida
Created by: desilva13
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