L41 BIOL 2970 Study Guide - Midterm Guide: Phenylalanine Hydroxylase, Genetic Disorder, Metabolic Pathway

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Study guide 1: central dogma and genetic variation (lect. Central dogma: dna is transcribed into mrna, transcribed 5" 3", rna=intermediate, mrna is translated into protein, start codon = aug. Information does not flow from protein to either dna or rna. Inborn errors of metabolism as a cause of hereditary disease: any hereditary disease in which cellular metabolism is abnormal results from an inherited defect in an enzyme, ex. Metabolism defect: black urine disease or alkaptonuria: excretion of homogentisic acid, enzyme not working or lacking the enzyme, leads to a block at that step, causes a backup in homogentisic acid which oxidizes turning urine black, ex. Phenylketonuria (pku: absence of defect in the enzyme phenylalanine hydroxylase (pah, phenylalanine accumulation, excess phenylalanine is broken down into harmful metabolites that cause defects in myelin formation. Genome: the total complement of genes contained in a cell: human genome = 3 billion base pairs. Allele: any of the alternative forms of a given gene.

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