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Molecular Biology and Genetics
MBG 2040
Christine Schisler

CongenitalAnalgesia CugenrFlAnalgesiaorCongenitallnsensitivitytoPain(qlP)i',,"@ EnEoGsdgthe alpha subunit of aagegatedsodifiiiannelproteilndividuawithl lhrgdiqordcrcm."n--oe5ggpl"l[el-$-"f{g."lg!-9;pe!e_1cgsa resultheyhaie many bruises, cuburnsanO-iiac;turds"*Tffiireitldloiil"ffirahypothetical familaffecteditClP.SnaOeO inOiviOuare ed.Thenext sixuestionrefer to thiinformation. Ae /\ f-t' T ha- o ^* & z -Is 'l Itt' o,s. tn A/A {pa $0. A" " i m" t Ao n0 4o_ &oo L-? b 't\-; lv \LAc^ rt*o L- frao*.) *-T*; *)r d-ao z-\ 1.lndjvrdual V-2 marries individual lV-9.herobabilithat theirrchildill \--.--_.-.-ithCIP?"; V -z 3oo/o * n* x {. R* x +{A"} = + =* A^ c)between2.O%and2.5o/o x {,f _ i _ Q between1.5o/and2.jo/o z- AA *v.a. x L\r\*'' -s1E 2q /1c' Qlessthanl'5% lrA*-i=dr*.lJ -iJ-. tt !a.^ xf Ao.k 3b '\uY '*rb t\v\ x{c-.^,r \S t f 12 r\ {tr 4}z _--go*__ ra rr ; -tt^* tr' {*e*1, 1& '* Fal2013MidteVersio, ot't, Fall2Ol3MidVersioZ 2. Only neurons transcribethe SCNSA gene and produce thealpha subunit- Which of the followingtatements istrue? a) SCNSA gene expression is activatedinneurons because only neurons are arrested inGz of thecellcYcle. the SCNSA gene because only neurons have the SCN9A O) Onty neurons iranscribe gene. gene is highly methylated in 6; N"urons transcribe the SCN9A gene because this pQurons. (ODru"rrorswould have a promoter regionforthe SCN9A gene and allother cellsould tik tnepromoter region forthe SCN9A gene. (e){one of theabove is true 3. What isthe probabilitthatindividuallV-7isheterozygous fortheC/P allele? &reater than 40% b)between 30% and 4oo/o g)between2Oo/o and 30% (dDetween 1Oo/oand 20% fl lessthan 10% 4.The literatureas described a hypomorphic allele region ofNewfoundland. The alleleis defined by a r"lionof theSONoA gene. lnindividua'?XUT*ous forthisatteietfrcreou subunit. productionof reduced amounts ofthe alpha gene the alpha subunits produced b; normal Ievelsof transcriptionf the SCN9A but I would be nonfunctional. c) no transcriptionof the SCNSA gene and therefore no alpha subunitswould be p(oduced. GDilr;t levelsoftranscriptionf theSCN9A gene butthe alpha unitproduced would ilinctionoorly. e) more than one ofthe above ispossible frequency ofCIP intheBird Cove Region ofNewfoundland is1 in 5. lmagine thecarrier from Bird Cove marry' What is the 3. furo pnenotypicattv -nqn-al i app'oii,[email protected],,4z.,, zQry -- : "' r ) ftreaterthan3o% 5 ,h)between2Oo/o and 30% [c)Oetwee n 10% and 2Oo/o "33Y.31 : o'totq d) between 5% and 10% e) lessthan 5% i I Fall2013MidtermVersion Page 3of13 Fall2013MidtermVersion '2-,b LU,.) 4AL-*\,, ,A CL t: 1- u,U t\A 49 2- : D.u.L n bb'/" -i "/-/ (- \ A 3 Or"'dlW I ':ulbi O* Ae,* c-tc,. Read over thefollowingstatements' i)Two othergenetic conditionsare similarto ClP. FamilialDysauton-omia ll(FDll)is uy a gen;tq[qp".hrclq5gmgg Congenital Analgesia I(CAl)iscontrolled contrgene tn"t iduals withCAI and FDll slrow impaired by a sensitivity Pain. seen in glP,san*Ue-segury*ifl.lq ii)Symptoms,-similarto those JLe--heve*rerve dam)qE-dgq !q lelroaY gene. lndividuals -':--*re* are a number of differentmutant ln contrast, ^m-rfi6ffioZygoNorh the "Bird Cove" alleleare L ' no pain sensitivitye g]@n-h-gm 6.The previousstatements illustrateich of thefollowingphenomena? (}'l rocusheterogeneity,ii)henocopy effectand iii)leliceterogeneity ffii\complementltion, ii1ieiotropyand iii)riableexpressivity 6ilii;ilenetic effects,i)'phenocopyeffectand iii)ocusheterogeneity Yii;il"]i" heterogen"ity,ii)phenocopy effectand iii)ocusheterogeneitv e) none ofthe above ii ftlxH' iiH: followingtatements describes themeiotic evenUs thatgave risetot+iJhitd?-=' \{=-'-'" n- meiosis Inondisjunctionoccurredrintheamaleaparent. T ,,,4 A ll nondiijunctionccurred inthemale na191!. Vn meiosis i't"-"oitiunctioncurred inthefemale parent' n4 t^o.T; ;if,ffi;;it occurred nine femaaelegrent' A djR meeiossislllndisunctonn ,,/ \u \Y r e) None ofthe above --L G9 t baldness have inheritedthe male- *- ,kr g. A studentclaims thatallmales withmale-pattern correct? '\D/}{- ' pattern baldnessallelefromtheirmothers. lsthe student ----" XO \ V b/ studentiscorrect Orn" studentisincorrect 9n" e$drv,osssftw'e$r._tlples..na @ __***}]g}y the g. O"n"yf;nd 6-are tightlyfinleO}p chromosot"0e-12- A student claims that iinyorio, s: Wna 1:1:1:1ratio.sthe ;il1;i;"""-'i? \_.r^\ Stt,- a)The student iscorrect''# he student isincorrect Fall2013Midtermersion2 Farr2013Midtermrr*""{ffi${, GilU;+ ') 10. Dwarfismincattlescaused by an autosomal dominaallele,16\orr"lcattlare d0)A researcher hypothesizthat homozygous,ffiIile dieinVro and therefore aYdwarfed cattle,alq hetqrgzygoTo tesi hhyp'othesitherrseaffiertest-crosses severalOwarfeO-6ttte. If+he-researeheris--hypOthe.-isco-1recJthe-exfi;i&f of the Dd x dd a)3dwarfed:lnormal \--/\-/-..--l b)3normal: ldwarfed *es< GruSs @ normal1 dwarfed d)2normal: ldwarfed e)2dwarfed:l normal d*roYr ,r*ru'""1 A small numberoftype O individualhavethe Bombay blood phelgtype.lndividuals withtheBombay bloodphenotype alwaysappearto have because they are US thegene, H, which iepistattdg6fre /As long asat least ABO bloodtypeassociatedwitthe person's ABO genotypewillbe expressed. Individuals'warehomozygous hh have typeO blood. The pedigreebeloueincludes two individualswith the Bombay blood phenotype.Note:Gene{ and Dareindependentllassorting. BxrrtxrS.r63 + A Hw-epi l^iHh hq :'LL \^\hn\.\ D AABOB 'LLhv-\ \^LHvr lo\sHn 10 Use the abovintormatHfrSEn.*", thenexttwoquestions. 11. ThegenotypeoIl-;couldbe @t:r, b\rr hh '@rcnnun "\ Fall201MidterVersio2 Page 5o13 Fall201Midterm Vers2on e)None ofthe abover-. 12.The genotype ofl.[!:Jtcould difi nn W toiuu 'eiLff nn Wrr un @rtone of theabove Wirecoatsindogsarecontrolledbyasingleo"[email protected]@ F- .P*q* allele._!4/,_!a{Ugjgejg- Homozygous recessif;e,)ogs have s[ooth coats. F ,6r&J AnotfrFffie, S,fintrolshe presenceoflrhitenthegogt. Dogs thatareS- ha.vq sQlId darkioaL. ooiiinat aress doqs have=S-iidmTThird sene controtE?ffi1-iF. Dogs with aleast onedom-rnana!!ele,,-haVeuprightars.Dogs that areom-6ZlQ-ous , ears. All-threegenes are autosomal and independently assorting.rihybridemales arecrossedtotrihybridales.The next twoquestions refer tothisinformation. W - \p[Y*ed i\^r{9rr'o.5+k\ S- sotid S'cuu- SS *:r'"i'*e 13.What ithe probabilithatthefirst offspringheabove crosswill \Alw 8s Ff { \F.r\NS}tr{ 'l3z a) 1116 .itr \4, ,l b\ 1t64 -!S -;s W b.\* trF s: @usz \ts -r,F W 5lw tq= 7 6azt -i+ *r.,1\w fr {{x e" e) none oftheabove j.t \it -ttr an ol *1{ dark coat.What is the probabilityve cross is thathisoffspring gc tw* x { trF x ats')= a a\4127 @un1/16 ,555s I od)1/e *T, ie,none oftheabove e $t ,1 Ostrichesre2N--=80;Usethisinformation to answerenextfourquestions. 15 n p,.ophr.:;;",or,r, ostrich ,.0 flit*?fr qc ""li{Wffrt'tf"€ru + a)Above statementis true statementis false @oo'" Fall2013idterVersion Page 6of13 Fall2013idtermersion 2 DN*- 6C) 16. How many bivale-tanOc-:[email protected] are presentiner6Gpl of meiosiin ostrich cerrs? {s e 2t\: @O and80 respectively nLz \t"o U+O and80 respectively --{o c)0 and40 respectively N d)40 and 160 respectively o ZC:BO e)none of the above .1. .-+'*d o br\irrqpt\35 L4 17. A male ostricis tte [email protected] alleleand thisgene maps to todetermineth-6-ppporthof thifemale'sametes thatwould in a Z chromosome and a chromdome Z.;withhe recessivalbino allele. Thstudenclffistheanswer is50%. !sthestudent correct? LW a) The studenicorrect @rn" student is incorrect Cvoss.\ere\( ostrichediatelafterS Bhase of thecell cycle, there wobed skincells. ois,lrep( codncr\ Above statement is true b)Above statementifalse and tabhyeoats-are all-ewhich [email protected] the allele whichoducestabby coatsisL Imagine thesegenes ,r" art on theX chromosome- Examine the pedigreebelow' Cr*p f -+-"fong Bn heni >€,,-Ltu-t
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