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Important Genetic Concepts. Genotype. Phenotype. Gene. Allele. C. N. Flow of Genetic Information. Page 353. Deoxyribonucleotide. Pg. 256. DNA Bases. Pg. 255. DNA Strand. Pg. 257. 5’. 3’. 3’. 5’. DNA Structure. Page 6. Ribonucleotide. OH. RNA Bases. Amino Acid Structure.
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Important Genetic Concepts Genotype Phenotype Gene Allele
C N Flow of Genetic Information Page 353
Deoxyribonucleotide Pg. 256
DNA Bases Pg. 255
DNA Strand Pg. 257
5’ 3’ 3’ 5’ DNA Structure Page 6
Amino Acid Structure Pg. 397
Mutation (Chapt. 16) Classification of Mutations Mechanisms of Mutagenesis DNA Repair Pathways
Mutation (Chapt. 16) Classification of Mutations Mechanisms of Mutagenesis DNA Repair Pathways
Old Old DNA Replication Template-dependent Semi-conservative 5’ to 3’ Synthesis New Old Old New Pg. 279
Base Pair Structures Pg. 416
Thymine Base Pairing Standard AT Base pair Tautomeric Shift Base pair Pg. 416
A A C T C A G T G C G T Tautomeric Shift Base Pairs Standard Base Pairs Rare tautomers are shown in Red
DNA molecule with TA CG transition mutation Affected base pair Tautomeric Shift of “A” Pg. 416
Insertion/Deletion Mutations by Replication Slippage
( OH) Oxidation of Guanine 8-oxo-7,8-dihydro-guanine (8-oxoG) OH Produced From Electron Transport
8-oxoG-A Base Pair Adenine 8-oxoG
Intercalating Agents Ethidium Bromide
Electromagnetic Spectrum UVA 380-320 UVB 320-290 UVC 290-100 (XP Photosensitivity: 280 to 310 nm) Pg. 371
DNA damage induced by UV light Can NOT form Base pairs! Fig. 15-9 Pg. 372
OH Ionizing Radiation X-rays Gamma rays Nuclear radiation DNA Double-Strand Breaks (DSBs) Chromosome Mutations (Chapter 8)
Mutation (Chapt. 16) Classification of Mutations Mechanisms of Mutagenesis DNA Repair Pathways
Nucleotide Excision Repair (NER) Pathway (NER) UV (pyrimidine dimer) (XP proteins) Pg. 424
Nucleotide Excision Repair (NER) Pathway (NER) UV (pyrimidine dimer) Individuals that are homozygous for loss-of-function alleles of one of the XP genes Damaged DNA Replicated Mutations!
OH Ionizing Radiation X-rays Gamma rays Nuclear radiation DNA Double-Strand Breaks (DSBs) Repair by Homologous Recombination (Fig. 16-16) Chromosome Mutations (Chapter 8)
Chromosome Mutations (Chapt. 8) Pg. 426
Human Molecular Genetics Human Mutations Linking Genotype to Phenotype Dominance Relationship of Alleles
Red Blood Cells Normal Sickle Cell Anemia Sickle Cell Trait
Hemoglobin ß-globin (146 amino acids) ß-globin (146 amino acids)
Molecular Genetics of Sickle-Cell Anemia Normal Individual Codon #6 Hb-A Sickle Cell Individual Hb-S
Hb-A Hb-S Pg. 350
Molecular Genetics of Sickle-Cell Anemia HbA Allele Codon #6 Hb-A HbS Allele Hb-S
HbAHbA HbSHbS HbAHbS Genotype/Phenotype
WT and Mutant ß-globin Proteins Hb WT Protein Hb-A Hb Mutant Proteins
Huntington’s Disease Dominant Allele Neurodegenerative Disorder