1. Mutations, Test Crosses, Pedigrees Unit 6: Genetic Abnormalities IN 139

2. Define mutation  Mutation: any mistake or change in the DNA sequence  Point mutation: change in one nitrogen base in DNA; Ex: albinism

3. Mutations- III. Mutations- changes in the DNA sequence that affect genetic information Gene Mutations A. Gene Mutations- results from changes in a single gene 1. Several types- some involve several nucleotides, but most affect only one Point mutations 2. Point mutations- occurs at a single point in DNA sequence. Generally change in one of amino acids

4. b. Can alter protein- making it unable to perform normal functions Frameshift mutation a. Frameshift mutation- insertion or deletion of nucleotide. Causes bigger changes!

5. Chromosomal Mutations B. Chromosomal Mutations- involves changes in the number and structure of chromosomes

6. Gene Regulation C. Gene Regulation- how does organism “know” when to turn a gene on or off? repressor protein 1. Genes are “turned off” by presence of repressor protein (produced by regulator gene) repressor protein 2. Genes are “turned off” by presence of repressor protein (produced by regulator gene)

7. 3. Presence of certain chemicals (e.g.- lactose in E. ecoli ) bind to site on repressor protein causing it to change shape and “fall off” the DNA molecule. 4. RNA plymerase is allowed to transcribe mRNA molecule to code for protein (e.g. enzymes to break apart lactose molecules)

8. D. Regulation and Development- especially important in shaping the way a complex organism develops from single fertilized cell. Hox genes 1. Hox genes- controls organs and tissues that develop in various parts of the embryo a. Mutation in one of these “master control genes” can completely change organs that develop in specific parts of the body b. Genes tell cells in the body which organs and structures they should develop into as the body grows. 2. Mutations may have led to drastic and quick evolutionary changes

9. Common mutation types  Chromosomal mutation: part of a chromosome is lost, added, or moved to another chromosome; usually not passed on because zygote dies  Crossing over: occurs when chromosomes exchange genes. Two chromosomes overlap. Some genes cross over and switch places

10. NONDISJUNCTION  Nondisjunction: occurs when a chromosome pair fails to separate properly during meiosis  Monosomy: when gamete has one less chromosome than it should, when it joins with another gamete the zygote would have only 45 chromosomes  Ex: Turner syndrome  Trisomy: when gamete has one more chromosome than it should; when it joins with another gamete, the zygote would have 47 chromosomes  Ex: Down’s syndrome, extra #21

11. Test Crosses  Testcross: way of determining genotype  Cross individual of unknown genotype with homozygous recessive  If all offspring resemble “unknown” then it is homozygous dominant  If some offspring resemble homozygous recessive parent, unknown is a hybrid  Testcrosses are used in breeding plants and animals if a certain offspring is needed

12. PEDIGREES  graphic representation of family tree  Symbols identify sex, if they are carriers, if they have a certain trait, etc.  May be used if testcross cannot be made

13. Drag & Drop Pedigree Practice  http://www.zerobio.com/drag_gr11/pedi gree/pedigree_overview.htm http://www.zerobio.com/drag_gr11/pedi gree/pedigree_overview.htm