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Unit III: DNA and Inheritance Gene Mutations Tortoiseshell Cat--gene expression --only females (X-linked) “Stormy” Fig. 25.2 Gene Mutations --any change in gene sequence-HOW DO THEY HAPPEN?? Errors in Replication: rare; DNA Polymerase “proofreads” and corrects mistakes Mutagens: low rate; environmental influences (UV radiation, certain chemicals); DNA repair enzymes fix damage Transposons: “jumping genes”; specific sequences of DNA that can change locations on chromosomes Transposons Indian Corn FIG. 24.16 Types of Mutations •FRAMESHIFT--insertion or deletion of a nucleotide; changes how the triplet code is read; •THE CAT ATE THE RAT •THE ATA TET HER AT (“C” REMOVED) •POINT MUTATION--substitution of one nucleotide for another silent--codes for same amino acid nonsense--codes for “stop” missense--changes amino acid and shape Sickle Cell Anemia •Point Mutation (single nucleotide) •Changes shape of hemoglobin (HB) •HB forms stiff rods •Can’t carry O2 FIG. 26.13 Nondisjunction in Meiosis=change in chromosome # 3 chromosomes Fig. 26.2 EXTRA CHROMOSOME--Trisomy 21 •Down Syndrome •Nondisjunction •Affects all cells Fig. 26.1 Fig. 26.3.b1 TRISOMY 21-Gart gene Gart gene Abnormal Sex Chromosome Number XO XXY Fig. 26.4 TURNER SYNDROME KLINEFELTER SYNDROME Muscular Dystrophy--X-linked FIG. 26 Fig. 26.5 Gene Deletion--Williams Syndrome Fig. 26.6 Duplication and Inversion--”inv dup 15” syndrome Fig. 26.7 Translocation--chromosomes 2 and 20 (Alagille Syndrome) Two non-homologous chromosomes exchange segments Fig. 26.8 Inversion (during Meiosis)