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Eli Minkoff • Pam Baker Biology Today Third Edition Chapter 3 Human Genetics Copyright © 2004 by Garland Science What Do Genes Do? • Direct the production of a protein – Two steps: 1. transcription of DNA to RNA 2. translation of RNA to protein • together, are called gene expression • Just because you have a gene for a trait doesn’t mean it will be expressed (show up) RNA: the other nucleic acid • Ribonucleic Acid • How is it similar to DNA? – Made of nucleotides • A sugar • A phosphate • Nitrogenous bases RNA: the other nucleic acid • Ribonucleic Acid • How is it different from DNA? – Made of nucleotides • A sugar: ribose instead of deoxyribose • A phosphate: the same PO4 • Nitrogenous bases: Adenine, Cytosine, Guanine, and URACIL (no Thymine) – Single stranded RNA: the other nucleic acid • Three types….three different jobs – mRNA = messenger RNA – tRNA = transfer RNA – rRNA = ribosomal RNA Figure 3.2 Figure 3.2a Figure 3.2b Figure 3.3 (1) Figure 3.3 (2) Figure 3.3 (3) Figure 3.3 (4) Figure 3.4 Figure 3.5 Figure 3.5 (1) Figure 3.5 (2) Figure 3.5 (3) Figure 3.6 Figure 3.6a Figure 3.6b Figure 3.7a Figure 3.7b Figure 3.7c Identifying genetic causes for traits/diseases • Is the trait/disease environmental or genetic? – Lifestyle-can still be influenced by family – Studies of twins • Pp. 72 to 75-discuss how a particular trait/disease might be linked to a particular gene; not testworthy Figure 3.8 Figure 3.9a Figure 3.9b Linkages found 1980-1990 • • • • • Huntington’s-chromosome 4 Cystic fibrosis-chromosome 7 Alzheimerj’s disease-chromosome 21 One colon cancer-chromosome 2 Two forms of manic depressionchromosome 11 and X Figure 3.10 Only a few follow simple Mendelian genetic processes: • • • • • Alkaptonuria Phenylketonuria Duchenne’s muscular dystrophy Cystic fibrosis-chromosome 7 Huntington’s disease/choreachromosome 4 Some genes increase risk or susceptibility • Alcoholism • Obesity Some traits are governed by several to many genes • Height • Skin color How can this info be used? • Gather/share info through genetic testing and counseling • Change individual genotype (gene therapy) • Change gene pool at populational level • Change balance between environmental and genetic factors Figure 3.11a Figure 3.11b Polymerase Chain Reaction (PCR)-Nobel-worthy discovery Figure 3.12 Figure 3.13 Figure 3.13a Figure 3.13b