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Review Sheet for Exam #4 (Morris Chapters 13-17) Dr. Solti This review is meant to serve as a guide to ensure your notes are complete. You will need to be able to do/understand and READ YOUR BOOK! Simply filling out this review sheet will not be enough to earn a good grade. Chapter 13--Genomes Definition of genome No relationship between genome size and complexity of eukaryote Why are there differences between large and small genomes? polyploidy and amount of repetitive DNA Definition of polyploidy Humans have 2 sets of 23 chromosomes/total 46 Transposable elements: "selfish DNA", inserts itself into new positions in genome; about 45% of human DNA Bacterial genomes are 1 long, circular chromosome in the nucleoid region Know 6 levels of eukaryotic chromosome packing Mitochondria and chloroplasts have a little bit of their own DNA supercoiled Virus: also called a virion; not a living organism. o Why? Obligate intracellular parasite, cannot independently have life, not a cell, inactive outside of host cells Baltimore system of virus classification Basic structure, only 2 necessary pieces: genome (either SS or DS- DNA or RNA) and capsid (protein coat) Viral replication: viral DNA viral RNA viral protein Know about specific host range Know 2 reproductive cycles: lytic and lysogenic Retrovirus: “backward” virus….goes from RNA to DNA; uses reverse transcriptase enzyme; have extremely high rates of mutation; ie. HIV, the virus that causes AID Emerging viruses: new viruses develop from cross-species jump…. from their natural hosts to humans (HIV, dengue, Ebola, hanta, West Nile, etc) o Causes: mutation of existing virus, change in human activity, natural disasters that put viruses with humans, cross-species jumping, etc. Viruses and Cancer: 20% of all human cancers are viral, called Persistant Viral Infections Tumor viruses transform normal cells by inserting viral NA into host cell DNA…..this alters host cell’s DNA: called Integration Proto-oncogenes: normal genes that can be transformed into oncogenes Oncogenes: cancer-causing gene Chapter 14--Mutations and DNA Repair Understand what mutations are and their results Mutation rates & how mutation rates depend on cell type Germ-line versus somatic-line mutations Somatic mutation and cancer 2 repair enzymes during replication Point mutations--nonmutant gene, silent mutations, missense mutation, nonsense mutation Sickle Cell results from missence mutation Cystic Fibrosis in-frame deletion of 3 nucleotides; symptoms of CF Transposable elements (transposons): moveable DNA sequences; can insert into a gene and disrupt its function Mutations caused by mutagens Chapter 15--Genetic Variation Know definitions of: genotype, phenotype, polymorphisms, allele Know that the effects of mutation depend up : whether mutation is homozygous or heterozygous & the environment Understand the heterozygote advantage of sickle cell trait (AS) versus sickle cell disease (SS) versus normal hemoglobin (AA) Understand that harmful mutations are often eliminated in 1 or few generations: (1). decreased survival, and (2). -1- Review Sheet for Exam #4 (Morris Chapters 13-17) Dr. Solti decreased reproduction Know about emphysema and harmful mutations: understand the interaction between the alpha1AT gene and smoking Neutral mutations Beneficial mutations: know about HIV and AIDs Know what VNTR is (new genetic fingerprinting) and how it can be visualized by PCR and gel electrophoresis Understand RFLPs Know SNPs: commmon point mutations; i.e. eye color; there are 3 milliion SNPs between one human and another Understand nondisjunction: causes cancer if happens in anaphase of mitosis; causes gametes with extra or missing chromosome in meiosis Most human fetuses with extra or missing chromosomes miscarry, but some live: Down's Syndrome, 47 chromosomes, Trisomy 21 Know about sex chromosomal abnormalities: Turner, metafemale, Kleinfelter, Jacobs Chapter 16--Mendel Know the Blending Theory versus the Particulate Theory of Heredity Hereditary factor detected: called “gene” Two or more variations: can be called “traits” or “alleles” True breeding: always producing offspring with the same alleles as the parents when the parents self-fertilize ( AA or aa) F1: hybrid result of crossing the P generation: 1st generation offspring Dominant trait: expressed trait in hybrid F1 Recessive trait: unexpressed (masked) trait in F1 Phenotype: how it looks Genotype: the actual genes Locus: specific location of a gene on the homologous chromosomes Homozygous: same alleles on homologous chromosomes ( either AA homozygous dominant or aa homozygous recessive) Heterozygous: different alleles on homologous chromosomes (Aa; also called hybrid) Know Law of Segregation and Law of Independent Assortment Monohybrid Cross: cross looking at one gene (know how to do the Punnett Squares) YY x yy F1 result: Genotype: 100% heterozygote (Yy) Phenotype: 100% dominant phenotype F2 result: Genotype: 1 YY: 2 Yy: 1 yy Phenotype: 3 yellow (dominants): 1 green (recessive) Dihybrid Cross: in Genetics Lab Homework…know how to do FOIL to get gamete possibilities Test Cross: when you have a dominant phenotype, but an unknown genotype (is it AA or Aa?); test it by crossing the dominant phenotype with a homozygous recessive (aa) Range of dominance: know complete dominance, incomplete dominance (snapdragons), and codominance (blood types) Incomplete dominance: problems with snapdragon flowers P generation: RR (red) x rr (white) F1 genotype: 100% Rr F1 phenotype: 100% pink F2 genotype: 1 RR: 2 Rr: 1 rr F2 phenotype: 1 red: 2 pink: 1 white Blood Type: AB…….example of codominance since both markers show up on the person’s RBC -2- Review Sheet for Exam #4 (Morris Chapters 13-17) Dr. Solti Understand dominantly inherited disorders: Aa, i.e. brachdactyly, achondroplasia (a type of dwarfism, Dd); Huntington’s Disease: a late-acting lethal dominantly inherited disorder: degenerative disease of nervous system; first symptoms appear at age 35-45 when already passed allele on to next generation Understand recessively inherited human disorders:i.e. albinism, CF, Tay Sachs Sickle Cell Parents will be carriers (Aa x Aa) Offspring: 1 normal AA: 2 normal carriers Aa: 1 recessive disorder aa Cystic fibrosis: most common lethal genetic disease in US; defective chloride channels; leads to accumulation of mucus in lungs, other organs Tay Sachs: lipid accumulation in babies’ brains Sickle Cell Disease: most common inherited disease of African-Americans in US; single amino acid substitution leads to sickling of RBC in blood hemoglobin Know incomplete penetrance versus variable expressivity Chapter 17--Sex Chromosomes Know human sex chromosomes Understand sex-linked inheritance....X-linked genes Commonly applied only to genes on X chromosome Mainly seen in males, but females can also have sex-linked recessive disorders Examples: color blindness, male pattern baldness Duchenne’s muscular dystrophy, hemophilia Know genetic linkage and genetic maps Understand Y-linked genes Understand maternal inheritance Understand how to do the genetics problems we discussed in the Genetics Problems -3-