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MUTATIONS What Are Mutations? •Changes DNA in the nucleotide sequence of •May occur in somatic cells (aren’t passed to offspring) •May occur in gametes (eggs & sperm) and be passed to offspring Are Mutations Helpful or Harmful? Some mutations may improve an organism’s survival (beneficial) • TYPES OF MUTATIONS Gene Mutations •Change in the nucleotide sequence of a gene •May only involve a single nucleotide •May be due to copying errors, chemicals, viruses, etc. Types of Gene Mutations •Include: •Point Mutations •Substitutions •Insertions •Deletions •Frameshift Point Mutation •Change of a single nucleotide •Includes the deletion, insertion, or substitution of ONE nucleotide in a gene Point Mutation •Original: THE FAT CAT ATE THE RAT •Mutation: •Substitution •Insertion •Deletion - Frameshift Mutation •Inserting or deleting one or more nucleotides – a specific type of point mutation that can change the created protein. •Changes the “reading frame” like changing a sentence •Proteins built incorrectly Frameshift Mutation •Original: THE FAT CAT ATE THE RAT •Mutation: •Frameshift - Amino Acid Sequence Changed Chromosome Mutations •May Involve: •Changing the structure of the chromosome of a chromosome •loss or gain of part of the chromosome of part of a chromosome Chromosome Mutations •Several types •Deletion •Inversion •Duplication exist: Deletion •Due to breakage •A piece of a chromosome is lost Inversion •Chromosome segment breaks off •Segment flips around backwards •Segment reattaches Duplication •Occurs when a gene sequence is repeated FYI Normal Male 2n = 46 18 Normal Female 2n = 46 19 Male, Trisomy 21 (Down’s) 2n = 47 20 Female Down’s Syndrome 2n = 47 21 Klinefelter’s Syndrome 2n = 47 22 Turner’s Syndrome 2n = 45 23