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Additional resources for Biochemistry and Genetics Pretest Self-Assessment and Review
Key concepts: Gene regulation (Murray, pp 411-433. Scriver, pp 3-45. ) • DNA sequence elements that regulate transcription efficiency include promoters (eg, the TATA box), enhancers, repressors or silencers, and RNA termination signals (eg, the AAUAAA DNA sequence). • Most mammalian genes have a TATAAA (TATA box) promoter located 25 to 30 bp upstream from the transcription start site that directs RNA polymerase II to the proper location; TATA binding protein (TBP) and its associated factors (TAFs) comprise transcription factor TFIID that is instrumental in forming the transcription initiation complex (see Table 7).
The Hardy-Weinberg law predicts allele frequencies in an idealized population according to the formula p2 + 2pq + q2 = 1 (p + q = 1, 2pq refers to heterozygotes). Applied to cystic fibrosis, the law predicts that homozygotes (q2) have a frequency of 1 in 1600, predicting that carriers (2pq) have a frequency of 1 in 20. A karyotype is an ordered arrangement of chromosomes that is described by cytogenetic notation. A karyotype can be obtained from dividing cells (blood leukocytes, bone marrow, fibroblasts, and amniocytes), but not from frozen or formalin-fixed cells (Fig.
Reproduced, with permission, from Murray RK, Bender DA, Botham KM, et al. Harper’s Illustrated Biochemistry. 29th ed. ) 26 High-Yield Facts in Biochemistry and Genetics 27 • • • • • • • • essential amino acids—remembered as the acronym PVT TIM HALL using the single-letter amino acid code (Table 1). Nonessential amino acids include glutamate/glutamine from α-ketoglutarate, alanine from pyruvate, aspartate/asparagines from oxaloacetate, serine from 3-phosphoglycerate, glycine from glyoxylate/ serine/choline, proline from glutamate, cysteine from methionine, and tyrosine from phenylalanine.