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MUTATIONS Changes in DNA that affect genetic information Gene Mutations Mutations – changes in one or a few bases These changes effect the protein that is created when the bases are being read. Gene Mutations Substitution THE FAT CAT ATE THE RAT (GCT AAT) THE FAT HAT ATE THE RAT (GCC ATT) Insertion THE FAT CAT ATE THE RAT (CGT ATA) THE FAT CAT XAT ETH ERA (CGT TAT A) Deletion THE FAT CAT ATE THE RAT (CGA CAA TAT AGT) H THE FAT CAT ATT HER AT (CGA AAT ATA GTC) Chromosome Mutations Changes in number and structure of entire chromosomes When DNA or Chromosomes are changed, the proteins they make may alter the cells and their functions Significance of Mutations • Most are neutral (Neutral Mutation) • Eye color • Birth marks • Some are harmful (Negative Mutations) • Sickle Cell Anemia • Down Syndrome • Some are beneficial (Positive Mutation) • Sickle Cell Anemia to Malaria • Immunity to HIV What Causes Mutations? There are two ways in which DNA or Genes can become mutated: Mutations can be inherited. Parent to child Mutations can be acquired. Environmental damage Mistakes when DNA is copied Substances that Cause Mutations are called “Mutagens” Chromosome Mutations Down Syndrome Chromosome 21 does not separate correctly. They have 47 chromosomes in stead of 46. Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence. Chromosome Mutations Cri-du-chat Deletion of material on 5th chromosome Characterized by the cat-like cry made by cri-du-chat babies Varied levels of metal handicaps Sex Chromosome Abnormalities Klinefelter’s Syndrome XXY, XXYY, XXXY Male Sterility Small testicles Breast enlargement Sex Chromosome Abnormalities XYY Syndrome Normal male traits Often tall and thin Associated with antisocial and behavioral problems Sex Chromosome Mutations Turner’s Syndrome X Female sex organs don't mature at adolescence sterility short stature Sex Chromosome Mutations XXX Trisomy X Female Little or no visible differences tall stature learning disabilities limited fertility Obey Andre The Giant! GIANTS!