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Human Chromosome Mutations Get out spiral Grab packet off front table 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations (What we did yesterday) Chromosomal Mutations Chromosomes are your DNA!!! Any change in the structure or number of chromosomes Large scale: Affect many genes What are chromosomes? DNA!!! Humans have 23 pairs of chromosomes, with one chromosome from each parent. (46 total) Overview Meiosis meiosis fertilization mitosis + development gametes Mom 46 meiosis Dad 23 23 egg 23 46 23 zygote fertilization sperm 46 46 46 46 46 46 46 46 46 mitosis & mitosis development Types Chromosomal Mutations 1. 2. 3. 4. Duplication Inversion Translocation Non Disjunction Chromosomal Duplication A segment of genes is copied twice and added to the chromosome Causes: Charcot–Marie–Tooth disease (high arched foot, claw feet, confined to a wheelchair) Chromosomal Inversion a segment of genes flip end-to-end on the chromosome Causes: Four-Ring Syndrome (cleft pallate, club feet, testes don’t descend) Chromosomal Translocation Material is swapped with another chromosome Causes: Promyelocytic Leukemia (translocation of chromosomes 15 and 17) Nondisjunction the failure of one or more pairs of chromosomes to separate normally during cell division Produces gametes (sperm and egg) (and therefore a baby) with one missing chromosome or one extra chromosome Down Syndrome Cause: Nondisjunction of chromosome 21 Three copies of chromosome 21 = “TRISOMY 21” Chromosomal Mutations Most chromosomal mutations are lethal If the fetus survives: Tend to cause wide-spread abnormalities Example: Down Syndrome Trisomy 21 - Down Syndrome Mutation Practice Normal Chromosome ABCDEFGH A B C F E D G H Mutated Chromosome Inversion Mutation Practice Normal Chromosome ABCDEFGH A B C C D D E F G H Mutated Chromosome Duplication Mutation Practice Normal Chromosome ABCDEFGH JKLMNOPQ A B C D J K L M Mutated Chromosome NOPQEFG H Translocation