Genome 361, Fall 2014 Name _/-Coyoun MC Exam 1 Version B Student? a YourtTa__Keisks Section AS Instructions ‘+ This is exam VERSION B, Please fill in the Version B bubble on your Scantron form. * There are 10 pages in total. if you do not have all 10 pages, let us know. + You have 80 minutes to complete the exam. * Questions 1 - 8 are multiple-choice questions. Please answer them on the bubble sheet. * Answers to questions 9 - 12 must be written on the exam. Answers written on this cover sheet, the tear-off page, or scratch paper will not be graded. + The last page is a tear-off sheet with a codon table, a polar body testing diagram, anda duplicate of the pedigree from question 11 + Askus if you need additional scratch paper. Please write your name on the front page. You may tear off the last page to use it as scratch paper. Sections: AA Wed 9:30- 10:20am Keisha AB Wed 10:30- 11:20am —_Keisha AC Wed 11:30-12:20pm —_Han-Ying AD Tue — 2:30-3:20pm Corey AE Tue 3:30-4:20pm Corey AF © Wed 12:30- 1:20pm ——Han-Ying Copyright © F. Cheong Fall 2014‘Multiple choice questions (5 pts each; choose only one answer) 1, Color-blindness is an X-linked recessive trait. Tiffany has Turner Syndrome (all her body cells have one X chromosome), and she can see color. Tiffany's mother is color-blind. Which of the followin g2ggiaientiigyave given rise to Tiffany’s Turner Syndrome? _A Mitotic nondisjunction in Tiffany during development B. Meiotic nondisjunction in Tiffany’s father Meiotic nondisjunction in Tiffany's mother D. Either B or C, we don’t have enough information to decide 2. In pigeons, an allele for bars on the wings (B) is dominant over an allele for barless wings (b). At an independently assorting locus, an allele for the presence of a crest (E) is dominant over an allele for no crest (e). A pigeon with an unknown genotype is mated with another pigeon with genotype bbEe, producing the following progeny: ‘ aan & b 2 < 61 have bars on wings and a crest 19 have bars on wings and no crest 58 are barless and have a crest 22 are barless and have no crest What is the most likely genotype of the unknown parental pigeon? ao bhEe + Sb Ee B-BBEE- C. BbEE. . sa bee b bb bb & Be Bb bay GO no bars : Ee \\& coess XL 29 oe st } E aN € fe ee } € €€ ée ) suelo Genome 361 Fall2014, Beam} { e Ce ee Ba Copyright © F Chong 2018 EK © \ of3. The diagram below represents a region of genomic DNA that contains an intronless gene E. Three are marked with arrows (see below for more details). The diagram on the right shows a close-up of a transcription bubble with RNA polymerase and transcribed mRNA of gene E. sites (i, ii, and if Transcribed eon vison 5 ———- wep sitei ste il” site i 3 5 Gia 5 Watson : 3 5 Gick JS a A researcher inserted an 8 bp sequence into sitesi, ii, and iii in three different mutant lines respectively and analyzed the effect of insertion on the length of the mRNA and protein produced: Insert 8 bp into: mRNA length Protein length sitei Longer ‘No change UTR site Longer Shorter colin, reaiar site Longer No change 7S! ox Where is the start codon on gene £’s coding strand? A. To the right of III on the Cri strand B. Between I and Il on the Crick strand CD)pBetween Il and Il on the Crick strand @rte pedigree below segregates three phenotypes: traits A, B, and C. Assume that the genes for each phenotype are autosomal and that all three genes assort independently. rt ‘O74 EM teita trait B & "Ee OM tare ‘What is the probability that I-1 and I-2's fourth child will show only trait A? D. 18 E. 4 Gename 361 Fall 2014, Exam 1 Copyright © F. Cheong 2014‘The following information is for questions 5 and 6: The Kermode bear, also known as the “spirit bear,” is a subspecies of the regular black bear. Some Kermode bears have a white coat due to mutations in a single gene. The shaded bears on the pedigree below have white fur. “| ‘e = 5. What mode(s) of inheritance for white fur can we eliminate? Note that any of the bears on the pedigree may carry the white coat allele. Assume that no aberrant event has occurred and that X- inactivation is not a factor in expression of the phenotype. A. X-linked recessive, X-linked dominant, and autosomal dominant 4B. X-linked dominant, autosomal dominant, and autosomal recessive > C. X-linked dominant and X-linked recessive B. X-linked dominant K Xelinked recessive mbed fecegsime < 6. Mitochondrial inheritance in bears works the same way as in humans. Which of the following bears share the same mitochondrial DNA? AAP? and 1-6 é 11-3 and I1I-2 Aand C E_Nene-of theabove- Genome 361 Fall 2014, Exam 1 4 Copyright © F. Cheong 2014|e Ge ges GIs NAS Peele 2fa) wta) wl) PX ae) Bd Ces 8, females have WZ and males have ZZ sex chromosomes. Unfertilized turkey eggs yetimes develop parthenogenetically (= asexually) to produce diploid offspring. The following ‘model is proposed: the egg goes all the way through meiosis, and then it fuses at random with one of its three polar bodies. What distribution of sexes would you expect to find among the parthenogenetic offspring according to this model? Assume that WW zygotes will die. (You can refer to the polar body testing diagram on the tear-off page.) Bal ef, } y & \{ Co / Z2 A. 5 female : 1 male \ ius 22 ow .Below is a cell in metaphase isolated from a pure-breeding plant with unspecified ploidy. All the chtomosomes at this stage are depicted (but spindle poles and microtubules are not drawn). Four genes and their alleles are marked. Assume that nothing aberrant has occurred here. Which of the following could this represent? Pay attention to ploidy as well as to the stage of cell division. Meiosis I ay Meiosis IT OL Mitosis ) Mitosis peat A. Ionly 4 ly fe) B_Loaly <> | Cte | Dotthore | @® lorlll | hevais 5 ne Ya ys ex Cane Genome 361 Fall 2014, Exam 1 NG 5 | Copyright © F. Chong 2014 ; ay : ey a eee ee ee eee eee eee ee eee ed Poe ee a ee ea ee9. (15 pts) Pixie is a short-haired female tortoise-shell cat with no white spots. She gave birth to two female kittens: Rosie (long-haired, black with white spots) and Jackie (short-haired, tortoise-shell with no white spots). Recall the followii 1g cat genes: * X¥= orange pigment, X* = black pigment. Heterozygous females have areas of black and areas of orange (like tortoise-shell cats). +L? cats have short hair; I! cats have long hair. * B?cats have white spots; bb cats have no white spots (i) Write the genotypes of Pixie, Rosie and Jackie for these three traits. Use *?° to indicate ambiguous Pixies LR Eye ok alleles if needed: (6 ps) ze Pixie’s genotype: LXLE XX ) eye Rosie's genotype:__ (Gb X° x preven Jackie's genotype:_- 7 6b X" Xx’ i) Which ofthe following male cats could have been the father of both kittens? Circle all that apply (5 pis) pad 2 BbYey Max: a short-haired orange male with white spots 2h Button: a long-haired orange male with white spots Bobby: a long-haired black male with white spots Dspooky: a short-haired black male with white spots Midnight: a short-haired, solid black male (iit) Domestic cats have 38 chromosomes per body cell. You find that some of Jackie’s body cells have 38 chromosomes, but others have 39. Explain this phenomenon briefly. Be specific about in which individual the relevant event has taken place. (4 pes) Sore hau 28 but oler badly allr furs most be Hu result of mitohe chen Tackre eas derelepmy as a aygute occured Lidar Jackies one oF fu driory Chaeosac: which did net segregate preprty ( 6+ Had liv Bak Sea eee Genome 361 Fal fase cad Coal thy10. (15 pts) The diagram below shows a schematic illustration of Gene Y, which contains two exons. ‘The exons are shaded in grey, the intron in white. A portion of the gene is blown up to show a genomic DNA sequence, with the intron sequence boxed. ex ene Cepressed Exon Intron Exon —————e - Stet : Genomic DNA ae nt Ws ---“CrRNGTTAGTATGACTTAC:-- s Lee C 3 ++ -GARIGAATEATACIGABTG--- 5 AA She Shp oe UL © &) After inspecting the sequence, you correctly determine that the bottom strand cannot be the coding strand. Explain your reasoning. Be brief but aren (6p) Stewd was Ke Y >, os us Hee ae of hase RF +0 fot Sequence Ty M Ke middte of Gree 2h PE ic all RFs ee each M a oh F Abra, Hrese BS sry at (Gi) Write the mature mRNA sequence for the region shown. Label the 5’ and 3° ends of the mRNA‘, sing a“/” and writ ino acid Comms = Sip! Group nucleotides into the correct reading frame using a “/” and write the encoded amino acid C2™~=* « Step! beneath each complete codon. (5) W/Dee/vya/Acu/vaAc 8 5 ony irae eee cca et Aymcne You find that a mutant strain produces a mutant protein Y with a leucine-to-isoleucine substitution within the blown-up region. This strain has no mutation in Gene ¥, so you propose that there is a single point mutation in a tRNA gene. Assume that the mutation does not affect which amino acid gets bound to the affected tRNA by tRN. (iii) Which tRNA gene is mutated? 2 pts) Die, ba eo gees sesh mendes Ly sgea Siealy HAT eetieaden peytme (iv) State the mutation in this tRNA gene by specifying the change in the anticodon region. Illustrate the mutant {RNA and mRNA pairing with a drawing below. (i) yon [levcte) \ mater d A Ber | SEMA aa uo Les 21pHy Ss! | Sti i ear petra 3s! UO A Saints 4 SoG aa OMe Genome 361 Fall 2014, Exam 1 mt 7 Copyright © F. Chong 2014 lev Seg * mew11. (16 pts) Shown on the right is a pedigree in 1 which shaded members have reduced sesitivity to | anaesthesia, which may make them afraid to see NOt dentists. This disorder is inherited in a recessive manner. We are only certain that II-1 does not i & carry the mutant disease allele. (A larger version of this pedigree is reproduced on yyy S 2 the tear-off page for your convenience.) (i) If this disorder is autosomal recessive, what is the probability that I1I-2 and III-3"s first child will be affected? Show your work and circle your final : asin MSHET EP) Te has a : | pa s\ (? = WZ of Q\A4 | A« Sa 2) 2 Cie it) ws \A ay mea eae a [ona = Wes weal) comes +5 tee "hae (a ee (ii) If this disorder is X-linked recessive, what is the probability that III-2 and III-3’s first child will be affected? Show your work and circle your finaLanswer. (5 pis) a 12) cl) «G) =| 2 ee Ts ere Wwe pine Theale (ii) If this disorder is X-linked recessive, what is the probability that I11-2 and III-3’s first child will siz _ have two dominant alleles? Show your work and circle your final answer. (6 prs) . =o AD’ (4)x (2) x | Sa, ya begin pe gi ee Al abe , hoa E 3) « (2) «@ A aw Ag i oF f foaa As a & Oleesn at oO Genome 361 Fall 2014, Exam 1 Conprigt © F. Cheng 2014 16A Ye 12. (14 pts) You encountered the following genes in quiz section 2: Chromosome Disease Inheritance Gene | socation of gene | Allele notation Disease Phenotype Sra FED 7 T= normal allele, | Hemochromatosis (absorbs too much iron) | Autosomal recessive h= mutant allele ESPN T E=normal allele, | Deafiess and balance problems ‘Autosomal recessive = mutant allele CFTR 7 F=normal allele, | Cystic fibrosis (mucus accumulates in lungs) _| Autosomal recessive | f= mutant allele A new patient, Edith, would like to undergo polar body testing. Genotype of Edith’s father: ecHHFF Genotype of Edith’s mother: EEhhff Edith’s second polar body is shown on the right: (j) Which of the following statements about how this second polar body was produced is correct? ‘Note that all 3 genes are far from the centromere, so recombination can occur. (circle one) (4 ps) aMei is I nondisjunction occurred b. Meiosis I nondisjunction occurred jisjunction occurred. v 4d. Meiosis occurred normally ‘ eaeosis Lor none (ii) In the space provided on the next page, illustrate how meiosis occurred to produce this second polar body. Remember to place a crossover on each pair of homologs where appropriate. Ifyou chose ‘meiosis T or II nondisjunction occurred’ in parti, pick one and state which one you are illustrating: your answers must be consistent. (10 pu) Be. Mostade tne farce T On the uextpage, you are depicting: ME 'G3IS01 Adc pct Genome 561 Fall 2014, Exam 1 9 Coppright © F. Cheong 2014Egg A \ os 4 Secondary oocyte tr a7 et Second polar body ry Le ____— Do not write below this line —————— — Questions 1-8 40 140 Question 9 a 1S } \$ ns | Question 10 a ' pba \ Question 11 fee ) Question 12 Total Genome 361 Fall 2014, Exam 1 10 I Copyright © F. Cheong 2014Genome 361 Fall 2014 iS Name _L Quiz 2 Version A, Nov 25 o Student #: Section: _Q 6 Four SNP (single nucleotide polymorphism) markers, SNP 1, 2, 3 and 4, have been identified on chromosome 3 in mice. Crossovers between pairs of SNP loci occur at the rates shown below: Frequeney of Crossover 50% 35% ee 2% = 5%: (i) Use the data above fo,construct a genetic map for these four loci. Indicate map distanees. (4 ps) / erate Ucar The obese gene has an autosomal recessive mutation (e) that makes mice eat excessively and become obese. To map the gene, you cross a wild-type female mouse heterozygous for this mutation to an obese male. 100 FI progeny are collected. You genotype the parents and the F'1 offspring for SNP 2 and 4. The back of your tear-off page shows the ASO (allele-specific oligonucleotide) hybridization results. Shading indicates hybridization, ee (ii) Determine the linkage relationships among the following loci; show your work or explain your reasoning: (9 ps) Are SNP 2 and obese linked? If linked, what is the map distance? prenehy er sur? Ker € * s got Sor Grom Ae i jehid Are SNP 4-and obese linked? If linked, what is the map distance? —“—0< © they ave bed Le we See He meMer's gtordn oe i | Deen : 2 Lae reas Write the parents’ genotypes for the loci obese, SNP 2 and SNP 4. Indicate phase wherever“ ®ut appropriate. Use superscripts to indicate the alleles of each SNP locus. For example, use SNP 2° to indicate a G allele at SNP 2. Use E and e for the ee alleles. 4 Female: (iii) Redraw the genetic map from part i to include the location of the obese gene. If you think there is more than one possible location, indicate all possibilities. Label the map distances. (2 prs) e7 a Copprigit © F. Choong Fall 2014 1 Pew Male: SweZe Swed / Swe2 e SWF