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Download Chromosome vs. Gene Mutations
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Transcript
Aim: How can we compare chromosome mutations & gene mutations? Gene Chromosome Chromosome Mutation: Causes a change in chromosome number or structure. Nondisjunction- occurs when homologous chromosomes or sister chromatids fail to separate during meiosis. Trisomy Vs Monosomy: Trisomy 21 3 Copies of a Chromosome Down Syndrome Monosomy X 1 copy of a homologous pair Turner Syndrome Down Syndrome Turner’s Syndrome What causes nondisjunction to occur? Trisomy 21 No one really knows for sure, but the older the age of the mother the greater the chance of having a child with Down Syndrome. Chromosome Damage: Part of a chromosome is repeated. Part of a chromosome is missing. Reversing a fragment of the chromosome. Rearrangement of parts between nonhomologous pairs of chromosomes. Gene Mutations: • Are due to a change in a single gene. • Can involve changes in several nucleotides Genetic Diseases caused by gene mutations: Cystic Fibrosis Faulty gene produces a defective protein that does not allow for the proper removal of mucous lining the cells of the lung and GI tract. Gene Mutations: Tay-Sachs Disease Faulty gene produces a defective enzyme which cannot help remove fat from nerve cells. Sickle-Cell Anemia: One base is substituted for another and this causes the production of a distorted hemoglobin molecule (protein) which cannot function properly. What do these three gene mutations have in common? They all affect the shape of proteins!! If we change the shape of proteins (enzymes) they will not function properly and this will affect our phenotype.
