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ps3, probs 8+9

Course: BIO pmb 13, Spring 2011
School: Berkeley
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8. Problem A human pedigree (below) shows people affected with the rare nail-patella syndrome (misshapen nails and kneecaps) and gives the ABO blood group genotype of each person. Both the disease locus and the blood type locus are autosomal. ABO genotypes: i/i = O type blood i/iB or iB /iB = B type blood i/iA or iA /iA = A type blood iA /iB = AB blood type a) Is the nail-patella syndrome a dominant or recessive...

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8. Problem A human pedigree (below) shows people affected with the rare nail-patella syndrome (misshapen nails and kneecaps) and gives the ABO blood group genotype of each person. Both the disease locus and the blood type locus are autosomal. ABO genotypes: i/i = O type blood i/iB or iB /iB = B type blood i/iA or iA /iA = A type blood iA /iB = AB blood type a) Is the nail-patella syndrome a dominant or recessive phenotype? b) Is there evidence of linkage between the nail-patella gene and gene the for ABO blood type? c) what were the alleles on each of the chromosomes of the grandparents? d) which descendants appear to be recombinants? Problem 9. The frequency of individuals in a population with two different alleles at a DNA marker is called the marker's heterozygosity. Why would a microsatellite DNA marker with 9 known alleles and a heterozygosity of 0.79 be more likely to be useful for mapping than a nearby microsatellite with 3 alleles and a heterozygosity of 0.2?
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Berkeley - BIO - pmb 13
Problem 7. A witch has 9 children and wants to know which of them will grow up to develop magic powers. The ability to perform magic is caused by a dominant mutation in the boredom gene (B = magic allele; b = wild-type allele). She marries a man who also
Berkeley - BIO - pmb 13
Problem 5. K has found a mutant fly that flies upside-down. She decides to try to clone the mutant gene positionally. She finds 4 microsatellite loci that differ between the mutant and a wild-type strain, and calls them A, B, C, and D. She crosses the mut
Berkeley - BIO - pmb 13
Problem 3. In mouse Hind III restriction digests, a RFLP has two alternative alleles: one that creates 2.7 and 1.1 kb bands, and one that doesn't cut and therefore gives one 3.8 kb band. A mouse heterozygous for a dominant allele for bent tail and the abo
Berkeley - BIO - pmb 13
Problem 2. A rare recessive X-linked mutation has been found which is caused by a SNP in exon 1. This SNP causes a RFLP in which EcoRI will not cut the mutant fragment. EcoRI normally cuts to give two bands: 200 bp and 600 bp. a) Fill out the genotypes fo
Berkeley - BIO - pmb 13
LS4 Problem Set 3, 2010 Positional Cloning, RFLPs, microsatellites Corresponding Lectures: November 12, 15, 17 Corresponding Reading: Hartwell et al., 391-419 Corresponding Quizzes: Nov 15-19, along with population genetics; Maybe also one or two question
Berkeley - BIO - pmb 13
Problem 14. A recessive mutation in the pointy-ear gene causes Vulcans to have round, human-like ears. However, extensive genotypic analysis has shown that the mutant phenotype is only 50% penetrant. In a population of 1,000 Vulcans, 20 have round ears. A
Berkeley - BIO - pmb 13
Problem 12. Malaria infects humans by first infecting mosquitoes, which then pass on the disease to humans. Some mosquitoes have a recessive allele of a gene that when homozygous confers resistance to malaria. Mosquitoes with this genotype do not pass mal
Berkeley - BIO - pmb 13
allele is 0.3 and, the allele frequency of the N allele is 0.7. a.) What is the allele frequency of the M allele in the sailor population? b.) 10 years later 1000 children have been born on the coastline. (All unions were consensual!) If the population of
Berkeley - BIO - pmb 13
Problem 4. A gene encoding a blood clotting factor has two alleles, A and a. Another gene on a different chromosome also encoding a blood clotting factor has two alleles, B and b. A random sample of individuals was taken and tested for their blood clottin
Berkeley - BIO - pmb 13
LS4 Problem Set 2, 2010 Population Genetics Corresponding Lectures: November 5, 8 and 10 Corresponding Reading: Hartwell et al., 757-773 Corresponding Quiz: November 15-19 (Along with positional cloning) If you want to try additional problems, there are m
Berkeley - BIO - pmb 13
Problem 14. On a planet in a galaxy far away you discover life. Proteins on this planet are constructed from 200 unique amino acids; however, DNA on this planet is made up of the same 4 nucleotides as ours. A) What is the minimum number of bases per codon
Berkeley - BIO - pmb 13
Problem 13. You discover a new compound that yeast require for survival. To find genes involved in the synthesis of this compound (compound X) you have screened for mutants that cannot grow on minimal media, but can grown on minimal media + compound X. Yo
Berkeley - BIO - pmb 13
Problem 12. While working in the lab, you find six deletion mutants of Neurospora crassa that are auxotrophic for lysine. The A and ! spores for each mutant are mated with each other to form a dikaryon (a diploid cell) and plated on minimal media. A) Assu
Berkeley - BIO - pmb 13
Problem 11."The cylons were created by man. They rebelled. They evolved. There are many copies. And they have a plan." Cylon models affectionately known as "skinjobs" are part machine, part organic they look and feel human. In order to increase our knowl
Berkeley - BIO - pmb 13
Problem 10. Two independent genes are located near each other on the worm genome. Tailin is required for tail-formation and Fertilin is required for fertility. Non-coding region Tailin Non-coding region Fertilin Non-coding regionABCDEFA) If you ins
Berkeley - BIO - pmb 13
Problem 9. The genes Arg-F, Arg-G, and Arg-H are required for arginine biosynthesis in neurospora, as indicated below. ARG-F ARG-G ARG-HOrnithineCitrullineArginino-SuccinateArginineA) In the chart below, some single, double, and triple mutant haploid
Berkeley - BIO - pmb 13
Problem 7. You have four known deletion mutants for a single gene: W, X, Y and Z. Point mutations 1, 2, 3, 4, 5, and 6 are all mutations in the same complementation group. Based on the recombination tests shown in the table below, draw map showing the del
Berkeley - BIO - pmb 13
Problem 6. You have isolated five deletion mutants in the T4 phage genes that control lysis of R bacteria. You infect R bacteria with pairwise combinations of these phage and determine whether they are able (+) or not able (-) to recombine and form wild-t
Berkeley - BIO - pmb 13
Problem 5. It's a very well known fact that most dragons do not breathe fire, and it's also well known that alleles that enable fire breathing are recessive to the wild-type Sweet Breath phenotype. However, it's unclear how many different genes when mutat
Berkeley - BIO - pmb 13
Problem 3. You have performed a mutagenesis screen in Drosophila and have found 5 recessive loss-of-function mutants with an essential role in the neural pathway that allows flies to jump. You perform a complementation test and get the following results.
Berkeley - BIO - pmb 13
LS4 Problem Set 1, 2010 Complementation testing, fine mapping by recombination, biochemical pathways, reading frames, mutations Corresponding Lectures: October 30, November 2, 4, 6 Corresponding Reading: Hartwell et al., 224-238, 255-265 Corresponding Qui
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Some progeny will descend from the WT host blastocyst, and the rest from ES cells. Half of the ES-cell descendants will be heterozygous for the mutation
Berkeley - BIO - pmb 13
All progeny descended from ES cells, half are heterozygous for the deletion
Berkeley - BIO - pmb 13
Progeny are all descended from WT host blastocyst
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
A chimeric mouse
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Selection Strategy
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
E!
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
During the first cleavages, all embryonic cells are totipotentTwo embryos can be put together to make a chimeric mouse
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Embryonic stem cells (ES cells)
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
2007 Nobel Prize was given for the development of ES cells and knockout mouse technologyMartin Evans Developed ES cells Oliver Smithies homologous recombination Mario Capecchi homologous recombination and knockout mice
Berkeley - BIO - pmb 13
Recombination is usually performed in diploids and occurs only on one chromosome
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
ura3-/ura3- yeast strain
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
Berkeley - BIO - pmb 13
LS4 November 22, 2010
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