4 Changes in DNA that affect genetic information MUTATIONSChanges in DNA that affect genetic information
5 Gene Mutations Point Mutations – changes in one or a few nucleotides SubstitutionTHE FAT CAT ATE THE RATTHE FAT HAT ATE THE RATInsertionTHE FAT CAT XLW ATE THE RATDeletionTHE FAT ATE THE RAT
6 Gene MutationsFrameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function.InsertionTHE FAT CAT ATE THE RATTHE FAT HCA TAT ETH ERA TDeletionTEF ATC ATA TET GER ATHH
7 Chromosome MutationsChanges in number and structure of entire chromosomesOriginal Chromosome ABC * DEFDeletion AC * DEFDuplication ABBC * DEFInversion AED * CBFTranslocation ABC * JKLGHI * DEF
8 Significance of Mutations Most are neutralEye colorBirth marksSome are harmfulSickle Cell AnemiaDown SyndromeSome are beneficialSickle Cell Anemia to MalariaImmunity to HIV
9 What Causes Mutations?There are two ways in which DNA can become mutated:Mutations can be inherited.Parent to childMutations can be acquired.Environmental damageMistakes when DNA is copied
10 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.
11 Chromosome Mutations Cri-du-chat Deletion of material on 5th chromosomeCharacterized by the cat-like cry made by cri-du-chat babiesVaried levels of metal handicaps
12 Sex Chromosome Abnormalities Klinefelter’s SyndromeXXY, XXYY, XXXYMaleSterilitySmall testiclesBreast enlargement
13 Sex Chromosome Abnormalities XYY SyndromeNormal male traitsOften tall and thinAssociated with antisocial and behavioral problems
14 Sex Chromosome Mutations Turner’s SyndromeXFemalesex organs don't mature at adolescencesterilityshort stature
15 Sex Chromosome Mutations XXXTrisomy XFemaleLittle or no visible differencestall staturelearning disabilitieslimited fertility
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