Population Genetics The concept of the gene pool. Mon gonetos involves examining how specific alleles are passed on within a family. 1umbers, viduals, ie. looks at small Population genetics is the study of how the genetic composition in a population changes and how these changes are inherited. As genetic change is the basis of evolution, ints broadest sense population genetic looks at how evolution occurs. somauew nent ‘What do we normal men fat ‘we nemaly mean by aperuisio? muon fan dan A grovp of speaiy Wig 1 a pomeuar noe area : Larger peputasrans have mee Sbondan " cnargeS in aetos ‘To a population geneticist, members of a population must bie to mix their genes ie. reproduce sexually fe seca Fressue ‘The genetic makeup of such a population is known és ths 2:39 + AU224 Spey SANE * A SURE ore sue cause The gene pool is defined as all the alleles in a populsiicr ci 3 paroular time, ind genes In practice we are usually only considering the alleles at one particular gene locus at any one time. ‘A gene pool may be isolated, to a greater or lesser degree, from other such pools by geographical barriers or other means. In a lake there may be virtually no transfer of fish to other ponds but insects, pollen grains, etc. may move to ‘other ponds. Geograpnic boundary Bi gone pool “ es : see ey ssrsggeeae« hy Be eg) \e x2 = 82 Sawer Koen = - -@y 16 erat ladyrudS Individual with a Gy Aas Seminar condition RD OF : a oie ‘A gene pool made up of 16 individual organiome where gene Anas two alleles Scanned with CamScanner/ } New College Bradford A-lev6 Inthe example above, what is the frequency of alleles A and a? 16 I gz O-Sé | mae | wi wy ¢lgz2 oe tt | a yer feuve ! BSS i Calculating Allele Frequencies - Codominance Incodominance there are diferent phenotypes fr each genotype. Where this fs the case, the alle frequencies can easily be calculated, ©.9. we ares ULE Ime socin snes gyainwin etna: on an oe d domuuiy cres ae U Red CRC 150 ms = a Pink CRC" 100 —P Coktmnanta ce eck auste — “> ONLy CAE danny 36 Vase I unas ed I@dowe ~> doe specone2 YAOUT White CWC” 250. > Ng donut 4G SCOR LEB. = 000 asuss What isthe total number of alleles inthis population? 2 ass oft MC! “The frequency of G® alleles can be calculated as follows Number of O" alles inthe C*CR plants=BOx 2 = GOO Number of CR alleles in the heterozygous plants = 1 OO ‘Total number of OF alleles in the population = 30+ 100 = 4-60 400 Frequency of the C'allele is ¢@r /1000= ope 0° F Number of C™ alleles in the heterozygous plants = {00 Number of CW alleles in the C¥'C™ plants 10x 2 = 500 Total number of C™ alleles =(00 + 95 = G60 600 Frequency of the G™ allele in the population is &° 1000= (0G 21 Scanned with CamScannerif: fies "- The Hardy-Weinberg Equation- calculating Expected frequencies For any particular gene there is usually more than one allele. Therefore in the population, each allele represents a certain proportion of all the alleles in the population. This proportion is the allele frequency. The frequency with which ‘anallele occurs has litle bearing on whether itis dominant. ‘The general formula to represent the frequency with which the dominant and recessive forms of an allele occut gene poo! of a population is moder asSU"S pop anda 1s 1arge peqet — has random Mmayung = ekpedsrang nosriGha = ro emmarann a immigfnd- Where p represents the frequency of the dominant allele e.g. A and q represents the frequency of the recessive allele e.g. a. NB/ when alleles are codominant, they are randomly assigned as ether p or ‘The British mathematician G.H. Hardy and the German physician W. Weinberg developed an equation to enable us to estimate expected allele frequencies. This is known as the Hardy-Weinberg equation: AR +has nha a0 34.9 ey GORI Horezygea pant es domuva are PRe2pate= 1.9 eau Key henrozyys is the frequency of the dor nt allele in the guiie is the frequency of the recessive allele in the ger oot ‘The frequency of the homozygous dominent genotype is p* ‘The frequency of the homozygous recessive genotype (or phenotype) is q? ‘The frequency of the heterozygous genotype is 2pq, ‘i any population the frequency of the homozygous recessive genotype can be worked out simply by working out the Proportion who have the recessive phenotype, However we have no idea how many ofthe dominant phenotype are heterozygous and how many homozygous. Itis possible to estimate the other frequencies by using the two equations above. Using The Hardy-Weinberg Equation: An Example Tongue rolling is due to the presence of a dominant allele R. Tongue rollers can therefore have the genotype RR or Rr. Non-rollers have the genotype rr. we know the frequency of non-ollers in the population this wil also be the frequency ofthe rr genotype, and from this we can estimate the frequency of each of the two alleles, @.9: 2 Scanned with CamScanner1, If 16% oF 0.16 of non-rollers exist. rrgenotype = 16%/ 0.16. So q? = 0.16 Therefore q = 0.16 = 0.4. This is the frequency of the rallele. 2, This means that the frequency of the R allele (p) is 1-0.4 = 0.6. 3, The frequency ofthe other genotypes can now be worked out. The homozygous dominant genotype RA is p? = 08 =0.36. 4. The frequency of the heterozygous genotype Rr = 2pq. ‘The genotype frequency in this case is 2x 0.6 x 0.4 = 0.48, 5. Check - the sum of all these genotypes should add up to 1: Cauy use the parr OF He P+ 2pq4qi=1 equonn yor ave LOOcung 0.36 + 0.48 +0.16=1 fu- Population genetics calculations p @ & 1. Inhumans, the ability to taste the chemical P.T.C. is inherited as a simple dominant c found out that 360 out of 1000 students could not taste the chemical. > vy Ye wae r istic. Suppose you i State the frequency of the allele for tasting P.T.C. woo meneaace Gee | 2h oe 644/- Pr PP ree tt SSS] oominantatde ps0. Axexg iY ii How many students in this population are heterozygous? recessvegerohpeg? «O° BS 460 0-4% Pa all 4b Dominant genotype p? = 0-16 _ 2. Adformiy of cate ppearsin 4% cf a lage herd. twas caused by a recessive alee, pos Wt otk * 0 {2 0-04 rt Ut yal. i, Determine the frequency of the dominant allele . in this case. 24 20y Recessiveallele q=_O+ 2 LO sere Dominantaele px_O-$ li, Calculate the % of the herd that are carriers. J Onty 2PGY —_| Recessive genotype q?=_0" 0 82 °/, too ans Dominant genotype p? =_O* 6 & 23 Scanned with CamScanner New College Bradford A-level Biology ‘Sy ays New College Bradford yn in humans. The frequency of the albino allele was 10% ing 3. Abinism is recessive to normal pi population. Calculate the proporti people yous would expect to be albino. Sgr beh 0-32 Recessiveallele q=_Q + 32 Dominantallele p=_O°68 Recessive genotype q? = 0.*! Dominant genotype p? =_ 647 The Hardy-Weinberg P! This states: ion wit stay constant from generation to ‘The frequencies of the alleles of a particular gene ip generation. However this will only occur under the following conditions: 1s The populations must be large- in small populations, chance events can cause large swings in frequencies (Genetic drift -see later). «© Mating between individuals must be random- this ensures an equal chance of each allele being passed on to the next generation. «No mutations must occur- this will introduce new alleles, changing allole frequencies. + Ait genotypes must be equally likely to reproduce, i.e, no selection occurs this encures an eavel Chance of the alleles being passed on to the next generatior «There must be no migration into the population (immigrat migration adds new alleles to, of removes alleles from, the popu tion) or out of the population (emigration)- ~ lation. This is known as gene flow. 1ey does not change then the population is said to be in genetic When these conditions are met and the allele frequen :dy-Weinberg equation only provides a reliable estimate of allele ‘equilibrium (or Hardy-Weinberg equilbrium). The Har frequencies if this is the case. ideal conditions listed above are never met in real ‘are all common processes. But the equation is ot in gonetic equilibrium (i.e. there is a change However the Hardy-Weinberg Principe is never reall vale 9 the Howttons. Gene lo (emigration), selection and non-random males saaaluable way of measuring evluionary change. I 8 popeisie® PN ar aye trquencies) then one of mote ef the processes bone Mi be at work il ie ns in tation deviates from the Hardy-Weinberg equilibrium shows th spn mt At Ot tantly ret or ee eens er oe taking place by how great these deviations are. 24 Scanned with CamScanner/ New College Bradiord A-level Biology Inthe en ‘examples, consider whether the Hardy-Weinberg principle applies or not. Can you justify your Example 1 Case study apo 200 ele moved ennai UA pe fond tm Ae ontranty ne tbo ‘couple, Mr and Mrs Samuel King, was heterozygous for Ellis-van Creveldt syndrome. This genetic disease produces a type of dwarfism where the limbs are shortened, sufferers have extra digits, and other compl tin death within the first year of lfe. The couple had many children, who in turn, produced many childre le 'y chance, another of the founders also carried this recessive allele. As a result of interbreeding in this isolated communi ‘now carries the allele, This has led\to a very high number of affected births. in 1964 there were 43 cases of the syndrome in a popula ‘7 ND because tne peepee moved TO pennsynarie in usA gq, Hem eucpe Sogngiam’d Out st tte POPLANG (emigsanon Jaddug [remarune, UL ASO auicly (reyMAGY Ad ner STAY COMLTAAY gem Che goncsaner tO HE Example 2 NeCFOUM (Aised Geary Populanay very MAL 14 ahd 19s 4 GOOG CUSTUG Genene Ane. Discuss: Within chimpanzee communities there is a clear social hierarchy, particulary in the males, with one male being dominant or alpha. Factors that determine dominance anid Sola status are physical ness, aggressiveness, kia fighting, abit to form coalitions, intligence and other personaly tres ‘Te dominant male ets access to and mates wil ie ferr9x'S-nthe gop than anyother male Ape Discuss: NO PeCALjo ently one MAL GUS iv Tepeda wuh MA? MALS than ony OHUL MALS Kuve an RaEHIED CARNE Of passing MUS CN tO thy reer Gees Hah GRE MAL -THECPEE MUftng KETV induUas |S NOT rondan no 2qvai Grane q anus beng passed oe re rexk Gens cno~ Genetic drift Genetic drift is basically the idea that allele frequencies can change simply due to chance, i.e. the allele frequencies “drift apart” over time. Some individuals may fail to survive or reproduce simply due to bad luck, not because they are poorly adapted, e.g. in the example below some beetles will be killed due to being in the wrong place at the wrong time. GENETIC DRIFT wl 25 Scanned with CamScannerNew College Bradford A-t es that the population must be large. In a small influonce in forms of changing allele frequancios factors tend to even out across the population. One of the conditions of the Hardy-Weinberg princi Population, these chance events can have a greater between generations. in large populations any chance ic XS: ‘Genetic drift may occur because of the founder effect or genetic bottlenecks 1. The Founder Effect | the population, {sometimes happens that a few organiems from a population become isolated rome ee por ©-9. when a small numberof individuals emigrate and colonise a new region such as an island. 2. Genetic bottlenecks {Population is said to go through a genatic bottleneck when i is temporatly reduced to a very ‘small number when fhe malority of individuals are killed. This could be due to a chance event such as disease, volcanic eruption, {odin or interference by man such as hunting. In both cases the new population size would be much smaller, and therefore the impact of chanco onthe allele frequencies would be much greater than forthe orginal population, The ‘new Population would also show a reduction in genetic diversity due to tho lose of some alleles, Past Paper Questions 53 - 467 Q1. A student investigated the m eyes were crossed, Of the offspriny “ oth Crater 2000 & Na © Ly {@) Using suitable symbols, give the geriatypes s 1 a cum z fe HeKetyIM ON NNN — icque Explain your answer. dona A Nn nA peat Genotypes Na Gian ———_t__ sca Explanation @ the galenss born nave bar CYS and we ProduG sare SHspnng Wa Mad CAUMA) eyes se parents Must be | —HHisenrg_bayn end Cnermar) eyes et be | Hersotyges auras oHHY reessive rond ees (amar) aato ne SUSS (neat) auiaro » reece rg gee 3.1 ( (o) The rat i r ©) Thera oltareyedtic and round. in the students resuts were not the same as the What ratio of bar-eyed to round-eyed flies was the Student expecting?) 324 a a) (©) Suggest two reasons why observed ratios are often not the same as expected ratios. | & So ASCE PRGUE tna may couse WB disad ayy qe ix ONd 0 murtinon nay AHear the can - 7 : Erte eee ICL 26 | fo ey Scanned with CamScannereov New College Bradford AJevel Biology @ (4) The studentiWiséd to test her resuts wit the ones ste had ekpected Which Statistical test should she use? Chi = squared, 0 (@) This fruit fly has another characteristic controlled by a pai ny wh NY + W What is meafitby eodominant alleles? Og wan cele, When Gore aUeias OF exprssed inHY Prenaype exe o ¥ 2 1700 aur, UICge ha AUELE FREQUENCIES ‘ ulation. In this population, 510 fut fies had the genotype METHOD. © yma tm gonaeo nv andthe srchpeMWh Calculate tne wet frequency ofthe allele WY, Bo not use the Hardy-Weinberg equation in your caleuation. BSON2 7G aise Nene ig orev & WNW! = 285 Kez ie Ww! = 2s xe2 afus AV Eww = $5 Xz = 170 O- ee = a Use the, i have = y00= 32 aso 2 (0-206) K 0-32 = 0-32 femeree OO a I: 204 xiao = 32°, @ investigated Two fos wi grey bodies were crossed, Of save, Gq 27 ay \ eoasswe “5 dey page Scanned with CamScannerCoches G ee Explanation thy porenys ove both RUeICLYGOUS because reave ae (EOP smn van wise vedas go paveMs wast ve io Cy cahilar; Now Cologe Bradord Atov (9) sea subsets, gro he gonypaselNe palit; Expan yourenswor, © 9 SUMS OF Hho _ReUISive Wade bodies ALO giBdwlaney PERE Saati sa gitar @ Re a ek (©) Explain why/a tts howd applied to| nod inthis investigation, 10_fod HoroDUly Way the vesUJ yore ceased Mut 10 ANG ond VIR (iE CASS GLE StONS He S:50hKo nee ena eae a @ (©) _Aspecies of insect, ony found on a remote island, has a characteristic controlled by a pair of codominant alse, Cand (0 Whatis moan by EEinannr 2 OA essed —ninen @ Poin ques ove CAPIEDEI Uns pnenclyPe a) id the ‘ f : aleuate wenoy thease "hy ss your working, SOO X2 = 1000 ouLLES IN IIa) FEPUAKR ($Ox2 )tis0 $ cheM: 800 NM cisg NMigg = 250} ,000 70-25 x100 7) gorvner(H)Use your answer oi) andthe Hardy Wetatrg eaten vs . e240 =O syie_ alwould be expected have the gore GH Ck wy RSS Be liane CH > esis 2 69? seawor__31 € os % 20-25 BZ so aise Prt 2Pq4q ez) (a) 0625 S00 Biers PPY=T Q3. cost colou 's controlled by two diferent genes. Each gone has a’dominant ol oduetalitntsgesora ‘but the effects of the alleles interact to produce Scat sure Tho tal ges our goes on epee Genotype | Phenotype BbEe black bbE® chocolate | Bbee yellow | bee yellow 28 Scanned with CamScanner0 10 fomvcar cob New College Bradford A-level Biology (2) Whatlcolour coat would you expect each ofthe following genotypes to give? @ BBEe gBiadc () boEE_chotoLae 2) (b) A BbEe male was crossed with a bbee female. Complete the genetic diagram to show the ratio of ‘offspring you would expect. Parental phenotypes Black male x ‘Yellow female ve Parental genotypes BoE wee ge gout Eo vote omer ©) Coke) Gee ever be vote Oneorna oeoypes Bene, LuEr, poe piace yee Ottpring phenotypes yebow , Cnoceraie » VIAEC | Y qaiow cue place - Ratio of offspring " Z2rrh ‘phenotypes @ ie clout Labrador do i uo capone. 8 Blgment phasomatann tho “he bck a os ara sof another pig ilipnn dopoctea Slagram shows te acon of genes E Bh Gene E sd preamarann | yenen! Enzyme soassive @ Coxser Y enagmacne Gere Cea oe Phacomelanin col ‘ (yellow pigment Proeomaoners rene) r £0 Gam i is inormat ya) is jon to explain hoy Onno’ 6 Ge mee —— meee wk OZE (the genotype bee produces a Yellow coal colour By Ons Gene Eumelanin (ark pigment) bong yte 50 (0x Colou @ the oo convert PNG tome un there i, the darker the hal. The. diferent coat colours. B affectsamount > Pemedany VY emetana ofeumelanin deposited in hairs Padoner y dance. Chocolate or lack coat colour & (eeessue tess en ae bieasswve so tess eumeanur $0 tS Ne. Homonygus tecessive SO_tecesswa_b prodweas jess cumatanmarn 50 Cont Gan (ess t- RECOSSWVE & means nO en dia to Gee ge eee nO enzyrw pro ddeg An £0 Evmutocan (2) Gene € aomuma E aus 60 cock for P foduen 1, vs onsen pracoweata ra contn So oor eee ANS Gene GB domuan B aviek so'naedses UO ot eum Mere ComManth 1eAds to 4 bIACE eon HPOSUS TH hate So coer comour Scanned with CamScanner@ b Q4. (a) In genetic crosses, the o sep note sare ®S served phenotypic aos bland in the offspring ‘Suggest two reasons why. 1.___Fusion of _gameres is (andor - —— offspring produced. The position of the shown in the diagram. The phenotypes and number of offspring produced are shown in Table 1. ar m T t M Me A Vy { 7 7 \ \ rc U \ wel) TMM tINin Table 1 5 Phenotype of offspring Number of offspring TYIMM ke mm [Tall plants and normal leaves 1860 Tall plants and mottied leaves 68 [Dwarf plants and normal leaves 87 te Dwarf plants and motted leaves 580 Ke mm Rocesswe (©) What would be the genotype of ae emm ay (c) Use the information provided to explain the results in Table 1. there are mae TAU MANS and Numai leOVe and mere daelf PLANT onc momed eaves , Thar ate IS rom planus curd Mond Ores and dwar Plavs avo! 30 nufial wae * Scanned with CamScanner+ [rest THtdm Tira Te win TTMm mea aie aie 1 tne ttm 4th Tan Aeima Fou! ariel es Table2 tie Phenotype of offspring Ratio of offspring Suen nore * Taw nomnot a) ; 3 iwold mdeto CG. tan mowed 3 AuiQrk maare d evesngioly n vasengeo- Adtmal Complete the genetic diagra Parental phenotypes Grey body, vestigial wings Ebony body, normal wings gre re to show the genotypes and phenotypes in this cross* “ty, Gaon 89Na dinyord < Parental genotypes Offspring genotypes. No No, Gann, 990 reywod ynormat ebony | vey erst, oe © : Houma Veiga wesna iat 31 29% 2S/y asl Ws Scanned with CamScanneri . New College Bradford A-t | opting phenotypes Grey body Notmar wurgs jCH00y badly Nomar wing ( Grey body VeyN/gion wings , @Hony vody verhiqiai™™"* wry) snail, (06. ina species of snail, shell colour is controlled b fc fare oF Genhyr? We ve - (a) Explain what is meant by a dominant allele, “HKUaS exter enifieiove , AN GUL phot is AWOYS expres i he ofan Mus Mn, #1 independont e6ON@ ch the fesse pote Be 68 By 4) ce ,6 ¢ Cc ¢ : ) eu ypee whieh woud ren no RRRSFSIEASTAIT cht ch ct, He! | p00 roc PRgeorvaS (Fine - bid ©) A ctoss betes a BR aRIAGA aa réduced | yellowe-shelled snail Ce SS only pink-shelled and, is. Use G ° ay pS eme’ yen cra ce \ SS (own ccd |x panic Shans ju yeow shally. oe : — @) () The shel of this snail may cf BadG8The absence or resence/af band's tontoled| ° “The alle tothealllefor b = bandod MO 4100 ; C propPaHG. knee P= domurdne anny 2PY order oye Reessive 0? + Smet \ sik : 2 j ee ee Answer 20-4 * | =o ® 0-41 428 oo OrTaltae + Y=) 2pay= Hererorygous anv | %> 0.285487 ANGE BN OMG ne WO. 24 22 2PM = G-204\427 K100 = 20.4 Scanned with CamScanner— pe: Q7. Waitarnis a substance which cat warfarin erik ue 18ihtemnaly le rats are in as they have the Rats have three possible enotypes: : donunay ae resistant to warfarin auld - resistant to warfarin c vows ‘susceptible (not resistant) to warfarin. WS = pecossv In addition, rats with the ger squire their diets. If they do nants ebay Seatac saben eae @ [lanl : rongscm chasg & in base S' te OF : 7 ADE &po omnes o 3) "parties / They were all fed on a di ing an ayuy Shs. in K. In this population, the [genotype WW and'56 had the genotype WWs." ' . your working. Boman © s wines 6 NYA (6x1) + (9642) we WSs 176 <1 ¥donuian- 460 Wen: S6 & axdemngs agg =0+6 WG, Anewer__C- & nwts 3S . @ (i) The hanged ned nya smal rhnt ofan Thera woud were jow many rats out ofthe population o cy iodo” on within Wee Se yWw's 28 Byes se 5648 - can Pigeren B Capron (Use the Hardy-Weinberg equation to Oo lation whi ow ibe Rens ff waa reseanee Sear yore ti Population wich 20% ONLY P= demas PH¥=l fot © REWSSuP Heros 4 . s y weW s\F/ comets p24 apytQ = Weys 7 Se p2 PH = OSI estar g 2XO-BKOT=O-4Z HOO wed 2) PVF1 mame ogg hoon 42g 3) W%2 0-49 3, Gza.7 é = p= 08 ae 4) PAY=N Pp rogzay See Q207 Scanned with CamScannerees earercmenmetae would appear in th Use a genetic yO s Soyo We ns NSW TOt Sus Ce pnbIe resiskan @ qo Wworonh " * s ws S67. NSW, susceenpte fo wort aun @ Gi) The graph shows tn agente ei ne Wal a 8 in which warfarin was regulary ue. and exp pe : fesse seam t PueqQuency ( 1 yt awe \ of WF allele ALCACASE won HVe Time —e $4 Fequncy of WS ase JO seases with Hume GN CO weve sia 5 wa tore to ve fev dora rover Xo eNstaN® no WoO » ara de og tess uch, AE EBSONG no worsen pone OVA Wt ard dy coneok p95 ona oyana 20 NPr* IPFA so equeney oe WS 9 decraytey LAS ANE MIVOANK poygrang@ SUE WE ose Peyaroy ina rapey dE "J (ON . wore oad One Nr @ Go) GvettDB Pind Pat mse fb oh nite Been AOS soemasenre ee ee eet 40 ond 2.___NO @migraha and immigian ca 34 Scanned with CamScanner é