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Chemical oxidation of a substrate involves removal of electrons, while chemical reduction involves a gain in electrons. • Oxygen provided by animal respiration provides direct oxidation (addition of oxygen to substrates by oxidases, cytochromes P450, etc) or indirect oxidation (removal of hydrogens from substrates to form water by dehydrogenases, etc). High-Yield Facts in Biochemistry and Genetics 19 • The generation of energy by oxidation-reduction reactions is proportionate to their redox potential (analogous to battery voltage); the conversion of oxygen to water (last step of the respiratory chain) has the greatest (most positive) redox potential.

Single bp substitutions at the third position of codons may cause silent mutations with no amino acid change due to tRNA “wobble,” while those at first or second codon positions may change the coded amino acid (missense mutations—see Fig. 17). • Human disease can result from (1) mutations that alter the primary genetic code with resulting changes in gene and protein sequence or (2) mutations that alter the complex “second code”—epigenetic changes in chromatin (DNA/histone) structure/conformation, small RNAs, or the numerous protein factors that regulate RNA transcription, RNA processing, and protein synthesis.

Targeted chromosome analysis or DNA sequencing are more definitive than microanalysis or multiple gene sequencing where variations of ambiguous clinical significance are often encountered. and genomic imprinting (exhibiting different phenotypes according to maternal or paternal origin of the aberrant genes). • Prenatal diagnosis can include fetal ultrasound, maternal serum studies, or sampling of cells from the fetoplacental unit by chorionic villus sampling (CVS at 10-12 weeks, amniocentesis at 15-18 weeks, or percutaneous umbilical sampling [PUBS] from 16 weeks to term).

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