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By the early 20th century… Chromosome Theory of Inheritance Haploid gametes Mendel rediscovere d Morgans fly lab Morgan’s Flies • New generation every two weeks • Four pairs of chromosomes • Plenty of visible phenotypic variation Experiment Wild-type red-eye female x mutant white-eye male homozygous XWXW hemizygous XwY Figure 15.3 Hypothesis: white allele is on the Y Results XW XW P Homo. red x Hemi. white F1 = 100% red Hetero x Hemi red F2 = F: 100% red M: 50% white XwY Conclusions • The white-eye allele must be on the X aka X-linked sex-linked XY X X’ carrier • First solid evidence indicating that a specific gene is associated with a specific chromosome • Applies to humans too XY XX X X’ X‘Y Affected x Carrier Takes a heterozygous carrier mom… …and an affected dad carrier healthy affected affected to have a 0.25 chance of an affected daughter Royal Hemophilia Queen Victoria, carrier Hemophilia is an x-linked recessive condition that results in too little blood clotting factor produced, leading to uncontrolled bleeding Red vs Green ‘Colorblindness’ results from defects in a cluster of genes on the X chromosome. As long as one normal copy of a red-absorbing gene and one normal green-absorbing gene are present, vision is normal. X Inactivation If males have only 1 allele of each of the X chromosome, do they produce less of the protein X-linked genes produce? Nope - one X is de-activated, at random, in cells of females mosaicism Observation #2 • Mendel concluded that pea traits sort independent of one another • Morgan noticed that some traits do not sort independently • He proposed these traits are linked - located on the same chromosome – and that chromosomes independently assort a B c D A B C d BUT NOT ALWAYS! Observation #3 “Chromosome pairs are observed to twist together…conceivable they could break and trade pieces” Crossing over in M2 Recombinant offspring are those that show new combinations of the parental traits Recombination Likelihood of recombination determined by distance frequently recombined linked infrequently recombined independent Calculate % recombination to determine distance apart 1% recomb. = 1 map unit Recombination 1% of crossover frequency = 1 unit of distance between two genes Use to create chromosome ‘maps’ of relative locations of genes