Note for BIOLOGY 283 at UMass(1)
Note for BIOLOGY 283 at UMass(1)
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Date Created: 02/06/15
General Genetics BIOL 283 Spring 2014 Markstein Homework 1 DUE Friday April 4 YOU MUST BE IN CLASS ON FRIDAY APRIL 4 TO COMPLETE THIS HOMEWORK Late homework not accepted TOTAL POINTS 50 40 Takehome 10 To be completed in class You must be here YOUR LAST NAME ONLY YOUR STUDENT ID PRINT YOUR LAST NAME HERE Question 1 Family Pedigrees 10 points total You have worked with six patterns of gene transmission 1Autosomal Recessive 2 Autosomal Dominant 3 X linked Recessive 4 X linked Dominant 5 Ylinked 6 Mitochondrial Is it possible for the transmission of an Autosomal Recessive trait in a family pedigree to be distinguished 39om the other 5 forms oftransmission Answer this question by devising a family pedigree ofyour choosing Yourfamily can have up to 10 people and it can span up to three generations Construct the tree in stages A ci Make sure to construct a tree that is consistent with transmission of an Aurosomal Recesslve rralr Label each individual With a um rte number l j z J SO Liiai 5TE 6 4 1 Pl 7 A 3 85 a points Create patterns of inheritance on your tree that are consistent with an Autosomal Recesslve trait but that rule outAutcsomal Dominant Xyllnked Dominant XV linked Recesslve and Mitochondrial Inheritance See gractlce examgle Write the unique identifying number oral least one individual in your tree that rules out the renewing traits ii a lratt cannot be ruled out then explain brie y in the space allotted BAutosomalDornlriant2 points i1 l A E 1 c Xrlirlked Dominant t2 nolntsl if 77 D Xrl lnked Recesslve 2 points b 8 E Mitochondrial inheritance 2 points if 3 C ulxe lift Ft 5 PRINT YOUR LAST NAME HERE Question 2 Sexlinkage 10 points A 25 points Which of a woman s grandparents could not be the source of any of the genes on either of her Xchromosomes Assume normal transmission of chromosomes and genes 1 Her mother s father 2 Her father s mother 3 Her mother s mother 4 gr 5 Each her grandparents could be the source of her X chromosome genes This is because X chromosomes are not passed down the lineage from father to son Instead the Y chromosome is passed down the lineage from father to son B 25 points Which of a man s grandparents could be the source of genes on his Xchromosome 1 His paternal grandmother only 2 Both his paternal grandfather and grandmother 3 His maternal grandmother only 4 His maternal randfather onl 7 154 in in fii This is because females receive their X chromosomes from both parents The man most likely received an X chromosome from his mom that is a recombinant of her mother and father s X chromosome Using the terminology of Lecture 9 April 4 he most likely inherited X chromosome haplotypes from both his maternal grandmother and his maternal grandfather PRINT YOUR LAST NAME HERE Question 2 Continued C 5 points This is a true story A young woman in a family like the one shown was worried that the men in her family were cursed with a gene that made them extremely violent Two of her brothers one of her male cousins and her grandfather each found themselves in jail for extremely violent crimes She approached her family doctor for help 15 years later scientists mapped the gene Defense lawyers have used this finding to argue that people with mutations in this gene should not be held accountable for their violent acts 10 2 3 4 5 6 7 962 I 10 11 12 13 14 15 2 points When the scientists first mapped the gene they reported to the press that the likelihood that they were right about finding the gene was 100001 What they meant was that the odds of linkage between the socalled violence gene and a marker Marker M at thetaO was 100001 What is the LOD score for linkage between Marker M and the violence gene 10quot4 10000 3 points What chromosome is Marker M most liker on e Y chromosome i quot glullllllw ll C An autosome D Mitochondria E There is not enough information to speculate The pedigree is a classic example of a recessive Xlinked trait it appears to skip a generation because the female carriers don t show it but half their sons do It does not make sense to be most likely autosomal recessive because it would necessitate that people 3 and 7 who are outside the family are also carriers As we discussed in class it is rare to have people be carriers for diseases PRINT YOUR LAST NAME HERE Question 3 LOD score analysis 10 points Some people are amazing at doing their assignments ahead oftime and the rest of us never get sleep the night before they are due There39s good news it turns out that the abilityto be punctual and organized is a simple Mendelian trait that has been shown to run in several families as well as in zygotic twins separated at birth That means that you are not to blame if you are doing this homework at the last minute But you still have to do it Below is the LCD Score data for 5 nurkers on chromosome 22 that you have tested for linkage to the gene for being punctual and organized PUNC Beiow are LCD SCORES piutted for 5 markers A i a mksL 4 quott i MoT HE LE f g 4 1 3 Hit l 0 5 0 is z 01 pi w m lung The Lab Scum Fall Ma a ti t is 2 FROM 6 o 3917i27 4 THEREFORE iLmKlLEZ EH IS MDT Wimw 10cm CF Puna Hawwer mom ice 4 the dueta are Incovicluslli A Lod score Theta Recombination Frequency A 5 points To the right of the LOD score graph draw a map of chromosome 22 showing me relative posmon ofthe markers 1 2 3 4 5 relative to PUNC When you do this simply plot the Zmax position of each marker If you do not have ennug inlarmatjprng 11ng marker on the mag exglain B 5 points Theta ranges from 0 to 50 Explain why it is never over 50 Your answer should not be longerthan 3 sentences and should discuss independent assortment Theta is another term for recombination frequency which is a measure of genetic distance The farthest two genes or markers can be ph icalu is on two separate chromosomes which by the law of independent assortment we know are inherited 50 ofthe time together and 50 ofthe time apart thus the maximum RF or Theta cannot be larger than 50 Genes that are physically linked do not exhibit RF greaterthan 50 because as the distance between two genes increases the likelihood of multiple crossovers increases PRINT YOUR LAST NAME HERE Question 4 Recombination and GWAS 10 points A 5 points In humans the genetic map is 4400 cM in females and 2700 cM in males Although females and males have different areas of recombination hot spots in general meiosis in which sex is more likely to produce lucky breaks like the ones that we discussed in class that enable nemapping of genes on autosomes Circle your answer 2 Males 3 Lucky breaks are equally likely female and male germ lines The take home message isthat genetic distance and physical distance are not the same thing The extreme example is that a stretch of chromosome that is the same physical distance in females and males will often have different degrees of recombination in the two sexes in females there tendsto be more recombination than in males Thus the genetic map in females is greaterthan in males there are more cM in the female genetic map than in the male genetic map because there tends to be more crossovers The more crossovers you have the better your chances of getting a lucky break between the gene you are mapping and the markers you are mapping it against B 5 points lfthe human genome evolved to have 30000 nonrecombining chromosomes with one gene per chromosome could you ever map genes PRINT YOUR LAST NAME HERE Question 5 TO BE COMPLETED IN CLASS 10 points Question 5 part 1 5 points Explain your answer to Question ZB See explanation that I already wrote by the answer Also many of you drew out a pedigree and that was also a ne approach Question 5 art 2 5 oints For Question 3A Which map is most accurate for Markers 1 amp 3 relative to PUNC 1 3 I39 C A PUNC They are 3 1 equally B l PUNC accurate The markers can be either to the left or right of PUNC There is nothing indicating orientation lfyou found the explanation of LCD scores on Moodle TLDR then you may have mistakenly thought that left and right made a difference It doesn t in the current example
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