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All published research with SNPs uses standardized nomenclature All newly-obtained information is deposited in freely- available, public databases maintained by the NIH 29 interlinked databases at NCBI Examples dbSNP – comprehensive catalog of all human SNPs dbGap – database of results obtained in various GWASs OMIM – online compendium of ann...
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Pressing issues raised by individual genome sequences Privacy of genetic information Limitations on the use of genetic testing Patenting of DNA sequences Societal views on aging Training physicians Impact of increased longevity produced by improved medicine Somatic gene therapy vs germ-line gene therapy For further descriptions, see the var...
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Two general classes of human disorders are caused by mutations in hemoglobin genes Hemolytic anemias (e.g. sickle-cell anemia) Mutations affect amino acid sequence and the three dimensional structure of a- or b-globin chain Results in destruction of red blood cells Thallasemias Mutations result in reduction or elimination of one of the two glo...
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Mutations in genes encoding gene products for transcription, RNA processing, translation, and protein processing are often lethal Some mutations in tRNA genes can suppress mutations in protein-coding genes
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20 different amino acids R group is the side chain that is unique to each amino acid Four groups of amino acids based on R group properties (Fig 7.24b) –COOH group and –NH2 group of adjacent amino acids are joined in covalent peptide bond Polypeptides have "N terminus" and "C terminus"
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One single-strand tail invades a non-sister chromatid and forms stable heteroduplex Displacement loop (D-loop) from invaded chromatid is stabilized by single-strand binding protein Non-crossover occurs when both junctions are resolved in same plane Crossover occurs with the two junctions are resolved in different planes
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Diploid ADE2/ade2 White colonies are wildtype Red sectors are ade2/ade2 Size of sector indicates when recombination took place
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Sex-influenced traits Appear in both sexes but hormonal differences may cause difference e.g. male pattern baldness (right, in John Adams and John Quincy Adams)
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Gene 3: Albino or pigmented C gene controls function of enzyme required for pigment synthesis C gene acts in a recessive epistatic manner to all other genes that control coat color Homozygous recessive (cc) are pure white, regardless of A or B genes (or other colors) C— mice are agouti, black, brown, yellow, or black and yellow depending on all...
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Entire genetic profiles of individuals will become available This genetic information can be used to help people Make predictions about future possibilities and risks Or, genetic information could also be used to to restrict people's lives Genetic Information Nondiscrimination Act was passed by the federal government in 2008 Prohibits discrimi...
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