A. The collective genetic information present among all members of a population is referred to as the gene pool . B. A distinct breeding group within a larger interbreeding group of individuals is referred to as a(n) subpopulation . C. During conservative transposition , the number of mobile DNA elements within the cell remains constant. D. The tendency of two genes located on the same chromosome to co-segregate is called linkage . E. A protein that specifies different fates depending on its level is a(n) morphogen . F. Heritability (H2) provides an estimate of the genetic contribution to a trait. G. Pleiotropy is when mutation of a single gene produces multiple phenotypes. H. Many familial cancer syndromes are cell recessive but transmit as autosomal dominant. The explanation for this phenomenon is that in one or more cells, wild type gene function is lost. This occurs most commonly through the phenomenon of loss of heterozygosity , where the chromosome, or a portion of the chromosome with the wild type gene is lost. I. Activation of a cell death program involves activation of cellular proteases called caspases . J. A plant or animal with four sets of chromosomes, regardless of their origin, is said to be tetraploid . K. The variance provides a measure of variation, including both genetic and environmental factors. L. A mutation in which the gene acquires some new activity is called a gain of function mutation. Please provide a brief definition of each of the following: M. dosage compensation: The mechanism by which genes expression from the X chromosome is normalized between male and female. N. allele: A particular version of a gene. O. linkage equilibrium: When the combination of alleles in cis is proportional to their frequency in a population, the alleles are said to be at linkage equilibrium. 2. Phenylketonuria (PKU) is an autosomal recessive disorder that affects about 1 in 18,000 in North America. Untreated it can cause mousy body odor, pale skin and most significantly, mental retardation.
gap genes begin to divide embryo into regions (knirps or kruppel) pair rule genes establish homeotic genes specify segment segments(ftz or eve) identity (antp or btx) segment polarity genes define A-P within segment and reinforce segment boundaries(wg or en) B. You find a mutation in a gene that you call antenna-leg, in which the animal has antennae growing where legs should be. What class of genes is antenna-leg likely to belong to (4 points)? looks like a homeotic mutation 7. In C. elegans, cell-cell signaling specifies vulval cell fates, causing the Pn.p cells to adopt primary, secondary or tertiary fates. Give the predicted effect of the following mutations in each of the cell fates listed (i.e. increase, decrease or no change, 2 pts each, 10 pts total): primary rationale A. loss of EGFR (let-23) decrease Can’t activate kinases to inhibit transcription factors B. gain-of-function mpk-1 (kinase increase downstream of Ras) C. loss of EGF plus increase activating mutation in Ras D. transcription factors (lin-1 or lin-31) decrease that can’t be inactivated E. loss of transcription factors increase plus loss of Ras 8. Robinow Syndrome is found in different forms, which show different modes of transmission. The pedigree below shows the transmission of one form of the disease. Affected individuals show the trait from birth. A. What mode of inheritance does this form of Robinow Syndrome show (4 points)? Autosomal recessive