ycerol nee fatty elds In rant wand tis an @ DNA structure Assessment statements 3.3.1 Outline DNA nucleotide structure in terms of sugar (deoxyribose), base and phosphate. 3.32 _ State the names ofthe four bases in DNA. 3.3.3 Outline how DNA nucleotides are linked together by covalent bonds ito a single strand. 3.3.4 Explain how a DNA double helixis formed using complementary base; pairing and hydrogen bonds. / 3.35 Draw and label a simple diagram ofthe molecular structure of DNA, Nucleotides are the building blocks of DNA DNA (deoxyribonucleic acid) isnot just long molecule ~it isan incredibly Jong molecule. In order to make sense ofthe structure of DNA, you must learn to recognize and work with the subcampanents.of DNA called aucleotides (see igure 3.9), Bach nucleotide of DNA is composed. p,a sugar called deoxyribose and a molecule that is called a nitrogenous base. phosphate ‘all group | HOH deorgrtbose sugar ota %, 0. NO vane sta ‘ ‘There are four possible nitrogenous bases in the nucleotides of DNA. The fo ses ae ad It is very common to see these bases shortened to their abbreviations (A, T, Cand G). Notice in Figure 3.10 that all nucleotides are exactly the same except for the nitrogenous base, Abbreviated. forms ofall the components have been used. ‘ee ye @ thymine Sone eyeing For many yeas most scientists verve baeved it was Protein, nt DNA that conta fourgenetc information Research conducted the fst ev decades cf the 20h century proved tha DNA contains our genet blueprat, 4 Figure 3.9 siructue ofa single OA deo 4 Figure 3.10 ‘the four nuciectides foundin DNA moleculesWhen scence not a scence? Vist heinemann couishatns, ingerte eseess code 4247? aod ‘lckonWeblini 33 Tink about ‘whether this scence aor Something ese The chemistry of fe Each strand of DNA is composed of nucleotides covalently linked 1 DNA molecules are often described as having the shape of a double heli This | ‘means that DNA is composed of tua strands and cach of the trandsisshaped like spiral staircase. Le’ first explore how each of the nucleotides ina single strand are covalently bonded together. Figure 3.11 shows five nucleotides bonded together to form the beginning ofa single DNA strand, Each adjoining nucleotide has been drawn in a diferent colour for emphasis of the nucleotide structure. No attempt has been mace to draw the helial shape of the strand. ‘he two sugar-phosphate strands form double Figure3.11 Fe nuseotides bonded heicnthntiogencusbates chown in blue) found tofonma very smal section of one inside the hei shape, strane DNA Complementary base pairs and hydrogen bonds help form the double helix [Now we ae ready to look at how the two single strands of DNA interact to help form the double helix. Imagine a double-stranded DNA molecule asa ladder (Gee Figure 3.12). The two sides ofthe ladder are made up of the phosphates and deoxyribose sugars. ‘The rungs of the ladder (what you step on) are made up of the nitrogenous bases. Since the ladder has two sides, there are two bases making up each rang, The two bases making up one rung are bases that are said to be complementary to each other. The complementary base pars are adenine ‘thymine and cytosine-guanine Adenine and thymine are held together by two hydrogen bonds. Cytosine and szuanine arc held together by three hydrogen bonds. Because adenine and guanine -srerwiee WHEW OF Uipmine md cYlosine, Complementary base psring isthe only arrangement that gives a consistent distance from one strand across othe other strand and also leads to bonding between the bases. We can now use all of this information to construct a simple yet accurate drawing of DNA.ed e only her ‘vy do researchers offen ave ONA ifrmation a the Sequence fnitoganous bases Wout inceatng the presence ofthe phosphate group and sug companent ofeach ruclotde? {6 starting witha bank pice of paper, rate drawing a lade lagram of DNA.n wtih the rtogenous tase sequence of one rand 7,6, AT Se sue To include a representation of ‘the phosphate groups and decnyibose suger in each audi, 4 Figure 3.12 Seal secon of double svended DNAmolecue ‘howe hydkogen bonds betmeen, complemeitrynivogenous bases, “Tre two sng sands hat makeup the double-stranded melecule unin opposite dretians wo each other The term that describes this sania Thus we say that he tno stands of the double hela antiparallel and complementary to¢sch ther. 4s arwork shows complementary base pas and hyctogen bangin DDNA Note that thymine and etoine are much smler alec structs than adenine and quenine °o ‘The Human Genome Project (see Chapter 4) asset up to map alte genes the genome) of umans you aeintrestedin this Incenstionl projet and woul ket knew abouts ests ane ‘eure goak eithenerann cull hotinks insert he express code 424 aa cickon Weblnk 34‘The chemistry of ie ea DNA replication Assessment statements 3.4.1. Explain DNA replication in terms of unwinding the double helix and separation of the strands by helicase, followed by formation of the ‘new complementary strands by DNA polymerase, 3.4.2. Explain the significance of complementary base pairing in the ‘conservation of the base sequence of DNA, 3.4.3 State that DNA replication is semriconservative. DNA replication involves ‘unzipping’ Calls must prepare for cll division by doubling the DNA content ofthe cell ina Helicase may catalyse the @ process called DNA seplicatian. This process doubles the quantity of DNA and also Presse tanta Siac | ‘ensures that there is an exact copy af each DNA molecule. You should try to picture the environment in which the DNA is actually replicating, This i the environment ofthe nucleus during interphase ofthe cell eye. During interphase there isa nuclear membrane which separates the fluid of the nucleus (nucleoplasm) from the ‘jtoplasm. The DNA isin the form of chromatin (not tightly coiled chromosomes). Among the variety of molecules present in the nucleoplasm arc two types that are particularly important for the proces of DNA replication; they are: «+ -sngymes.needed for replication —these inclu helicase and.a group of enzymes collectively called DNA polymerase, + {cee nucleotides ~ these are nucleotides thatage not yet bonded and are found i nucieoplasm, some c ring, some cytosine and some guanine (free micleotides are mote correctly called nucleoside triphosphates). Fee ‘One of the early events of DNA replication is the separation of the double helix into two single straads, You should remember that the double helix is held together by the hydrogen bonds between complementary base pairs (A and T, C and G). The enzyme that initiates this separation into two single strands is called hnclicase. Helicase begins at apoint in oratthe-end ofa DNA molecule and saves ‘one complementary base pair ata time, breaking the bydiagen bonds so the per seco Helicase (curently at about the >» halfaray ola ins image ofa ONA double hla beng unzipped) would have started o the left and be moving ‘owaucs the ght.6 e also cture pent m the mes). und sis nC alled “Toe unpaired ns singe stands can naw be wed i d r 7 tuna Some people oe the analogy of zipper for this process When you pull oa zippen the lie mechanism ike belcae The separation of the vo sides of the DNA molecule aelike the two opened sides of ipper (see Fire 3.13) | | CE 4 Figure 3.19 The fs sep ofONA at repletion i eleaze unepong the cat double-stranded DNA molecule forming a section wth we sgle so unzipped section Formation of two complementary strands {As showin in Figure 3.13, once DNA has become unzipped, the nitrogenous bases ‘on each ofthe single strands are unpaired In the environment of the nucleoplasm, thore are many free-floating nucleotides. These nucleotides are- available to arm le-standed nucleotides of the unzipped “snalecale. This does not happen in a random fashion. A free nucleotide locates 4 ‘on one opened strand at one end and then a second nucleotide can come in ‘ to join the first. This will require that these two nucleotides become covalontly inning of a sig. The formation of a i DN. polymerase enzymes that is important in this process. 144 A small section of DNA (chown inthe cent ofthis ara fseen na DNA polymerase enzyme [A third nucleotide then joins the frst two and the process continues in a repetitive ‘way for many nucleotides. The other unzipped strand also acts as a template for ™ the formation of another new strand.’This strand forms ina similar fashion, but in the opposite direction to the first strand. Notice that one strand is replicating in the same direction as helicase is moving and the other strand is replicating in the ‘opposite direction, ‘Who should decide how fast ard how farumane shoul go wih our study ofONA and the technology ‘hat rapidly emerging? |The chemistry of ite ff Significance of complementary base pairing ‘The patter of DNA replication ensures that two iene copies of DNA are | | | produced from one. Figure 3.14 illustrates a very small section of DNA replicating, Figure 3.14 DNA replication > 6 . Te » = _Notice that inthe arca where replication has alneady taken place, the two strands Lene Tea © sre absotly ident to each other. This is becuse the original double-stranded debate molecule had complementary pais of nucleotides and it was the complementary ‘was semiconservatie an calles tho most besutul nucleotides that used the unzipped single-stranded oreas as templates, eat “This lito mean that no DNA molecule ever completely new. very DNA, verdict enema enul afr replication cons ‘ot aw pated with ¢ ‘Soncmen tecere cote isnea! hed ata semiconssyative procs ‘etapa con en ee 77 The concept of semiconservative ONA repaton has some interesting epercssars Fo Teenie ene can gu tht there never ssh athng shew DNA molacde Hov/hong has Jour DNA en in youTinyout fam ineage? 18 Mos DNA mutatons occur during DNA sepcation Suggest how a mutation cals aden could ocean Suggesthow aration called a substation cout oc 35) Transcription and translation Assessment statements 3.5.1 Compare the structure of RNA and DNA. 3.5.2 Outline DNA transcription in terms of the formation of an RNA strand complementary to the ONA strand by RNA polymerase, 315.3. Describe the genetic code in terms of codons composed of triplets of bases. 3.5.4 _ Explain the process of transition, leading to polypeptide formation, 355.5 _ Discuss the relationship between one gene and one polypeptide.ting. ay Protein synthesis introduction * You probably took your first life science lass several yeats ago In that cass, you probably learned that the nucleus of the celf was the ‘control centre’ and that the \ nucleus contained DNA. This information isnot wrong — itis just incomplete. / (The control that DNA has overa cll isby-a poocess called protein synthesis. In simplest terms, DNA controls the protein produced in a cell, Some of the proteins produced are enzymes. The production (or lack of production) of a particular enzyme can have a dramatic effect om the overall biochemistry ofthe cell. Thus, DNA indirectiy controls the biochemistry of carbohydrates, lipids, and nucleic acids bythe production of enavies. “4 his computer graphic shows an insu molecule insulins rein hormone ands produced by proven tei Protein synthesis has two major sets of reactions called transcription and translation. Both either produce or require a type of nucleic acid called RNA (ribonucleic acid), This table compares DNA and RNA. contains a 5-carbon sugar contains a 5-carbon sugar Svcarbon sugar is deoxyribose S-carbon sugar is ribose ‘each nucleotide has one of four nitrogenous bases ‘each nucleotide has one of four nitrogenous bases the nitrogenous bases are cytosine, guanine, edenine, and thymine the nitrogenous bases are cytosine, uanine, adenine, and uracil double-stranded molecule single-stranded molecule Transcription produces RNA molecules ‘The sections of DNA that cade for polypeptides are called genes. Any one gene isa specific sequence of nitrogenous bases fou molecule. Molecules of DNA are found within the confines ofthe nucleus, yet ina specific location in a DNA ‘e Examiners hint: the command ern “ope eit bos sins ard iternces. wer maybe gen the Foam ofa table, nthe table shown here, ‘here ae five compansons (notte)The chemistry of life = etmeapitennn ett Seeeamaime” @ Sutnewens” Se Gere sNpemwire ese Sse Figure 3.15 Transcription (synthesis of anfvAmolecle) proteins are synthesized outside the nucleus in the cytoplasm. This means there hhas to be an intermediary malectile which carries the message of the DNA (the code) to the cytoplasm where the enzymes, ribosomes, and aming acids are found. “This intermediary molecule is called messenger RNA or mRNA. ‘The nucleoplasm (fluid in the nucleus) contains free nucleotides as disehissed catlier In addition to the free nucleotides used for DNA replication, the nnucleoplasm also contains free RNA nucleotides. Bach of these is different from its DNA counterpart as RNA nucleotides contain the sugar ribose (ot deoxyribose). ‘Another major difference is that no RNA nucleotides contain thymine, instead there isa nitrogenous base unique to RNA and called uracil ‘Transcription process “The process of transcription begins when an area of DNA of one gene becomes "unzipped (see Figure 3.15). This is very similar to the unzipping process involved. in DNA replication, but in this case only the ara of the DNA whece the particular ‘gene found is unzipped. The two complementary strands of DNA are now single-stranded in the area of the gene. Recall that RNA (including mRNA) is a single-stranded molecule. This means that Ine two strands of DNA willbe sed asa template to create the mRNA molecule. An enzyme called RNA sed as the catalyst for this process. =~ |ASRNA polymerase moves along the strand of DNA acting s the template, RNA -ueleotides ial inka lace by complementary hase paring, The complementary basepairs are the same a in double-stranded DNA, withthe exception that adenine.on she DNA is now paired with uracil on the newly forming snRNA _inglecule. Consider the following facts concerning transcxiption: ‘+ only oneof the two strands of DNA is ‘copied; the other strand isnot weds mRNA is always single-stranded and shorter than the DNA that itis copied from as itis a complementary copy of only one gene: ‘the presence of thymine in a molecule identifies itas DNA (the presence of deoxyribose is another cue) ‘© the presence of uracil in a molecule identifies it as RNA (the presence of ribose is another clue) somes NA eG CTTACCT AS ea 5 mee ATTGGCAT, % an Malte sot hellase Op Meng aa Teco aarec nie OF DNA SAA TSS! A's not transcribed We or carey free RNA ricleotideshe omits pose). of bose The genetic code is written in triplets ‘The mRNA molecule produced by transcription represents a complementary copy of one gene of DNA. The sequence of mRNA nudeotices isthe transcribed version of the original DNA sequence. This sequence of nucleotides making up the leagth Bf the mRNA is typically enough information to make one polypeptide. . you will ‘ealplsptidsatecrmposed of eminn ads smalaty hands to the mRNA molecule “ftbeuneage hat dcjermines be oaloeatcheaminaacids Researchers found ‘experimentally that the genetic code is written in a language of three bases. In other words, cxery three bases is ef the 20 amiho ‘acide, Any set of three bases that determines the idghtity of one amino acid is called a triplet. Wena.npeisfondina mRNA lee tiscaldacodonor sodon-isiplet / Translation results in the production of a polypeptide ~~~. ‘There are three different kinds of RNA molecules. They are all single-stranded and ceach is transcribed from a gene of DNA. Here is a quick suramary of each RNA type: ‘+ mRNA-as described shove, each mRNA is a complementary copy ofa DNA seneand is ezough genetic information ta cade fora single polypeptide: ‘© FRNA=sihosomal BNA, each ribosome is composed of rRNA and ribosome) proteins (RNA transfer RNA, cach type of RNA transfers { of the 20 amino acids to hi ribosome for polypeptide formation. Figure 3.16 (overleaf) shows atypical (RNA molecule, Notice thatthe three bases in the midale loop are called the anticodon bases and they determine which of the 20 amino acids is atached to the RNA. t Misthis model, you can see maNA (upper right) and NA (dover shaped “he amino acid which would be bonded othe A snot shownThe chemistry of life “—1 of 20 amino acids bonded here (serine) Figure 3.16 Stuctueofaimya molecule s Ansa sng sod f/ TNA nuclectidesbut as trenswhete the ran foscomplerentay base fang within fet ae Once an mRNA molecule has been transcribed, bens detaches fromthe tome pit the a tot tsgh one of ean bli ie pear ean A pores) and will then be in the cytoplasm. ‘ — 3 anticadon basas ‘Translation process ‘The MRNA will locate a ribosome and align with it so that the first two codon [A specific RNA molecule now floats in ~ its RNA anti he f don triplet of the mk , Thus the fist amino acid is brought into the translation process. It isnot just any amino acid See ie ~ its identity was: originally determined ‘by the strand of DNA that transcribe eee: STRNICSTG nthe Boson holding the Vv first amino acid, a second RNA floats in and brings a second (again specific) ‘amino acid, The second tRNA matches its three anticodon bases withthe second codon tiple of the mRNA. As you can see in Figure 3.17, two specific amino acids are now being held side by side, An enzyme now catalyses a condensation seaction ‘etween the two amino acids andthe _Eesulting covalent bond between them is “The nex step in the translation process involves the brsaking ofthe bond between thefitst RNA molecule and the amino ‘cid thatit tapsfermed in. This bond is ro longet needed as the second tRNA is curently bonded tits own arsino acid and that amino acid is covlentiy ‘bonded to the first amino acid. The fist {RNA floats away into the cytoplasm and invariably reloads with another amino acid of the same type. The ribosome that has 4ot has 1d pase on has Atiplet will bes triplet that docs not act. asa code for an amino acd, it signals‘stop the process of translation. The entire polypeptide breaks away fram the final tRNA only one tRNA in it now moves one codon triplet down the mRNA molecule. This, ineffect, pus the second t8NA in the ribosome position thatthe frst originally ‘occupied and creates room for a third {RNA to float i bringing with ita tied specific amino acid. The process now becomes somewhat repetitive as another peptide bond forms, the ribosome moves on by another triplet and so on. The process continues until the ribosome gets to the lst codon triplet be final codon 10 molacue-and hecomesa fee Soating palypeptide in the cytoplasm ofthe cll previous peptide 4 igere3.27 Eres cFenston Tome cuted tyne fa poy) ‘ne —argne sp shemyalanine wo RnAstt each tRNA caries speaiicamino ald plet codons ribosome The one gene/one polypeptide hypothesis In the early 1940s, experimental work was performed which ed tothe hypothesis that every one gene of DNA produced one enzyme. This was soon amended anes progressed number of aenes to nce al proteins and not just nays. Iwas ater discovered that many orem crn proteins are actualy composed of moze than one polypeptide and it was proposed tn srg dstay Ey ‘that each individual polypeptide tequiced.a separate gene. Thus for many years Sepeepaaie students lead the ‘one gene one polypeptide’ hypothesis, genes amex sina xe bow In the last few years, researchers have discovered that at least some genes are not for hts change i thining fhe. quite that srsightfonwardFor example, one gene may ea to single mRNA bese gest ce smalezile, but the mRNA molecule may then be modified in many different ways ieee Each modification may result in the production of a different polypeptide during polppepsides, the translation portion of protein synthesis Imagine that an rit eves the nceus ofa éukaryotlc cll withthe lowing bass sequance: | MUGECECSCRCCANTARGECCEE Locate an RR codon cr you do nothive atx tha cides codon chr yuan aces cnerfyouvstheneraen couloir rer he ere code a? an chon Mes. {9 eteine the amo aclsinwquence that recoded y he ave FRNA alee | 10 Determine the ONA code sean which ve aot above BNA cars | 11 Wat weld te amino acd sequence ef cosine ofthe NA mole Was replaced wih Ue? (Tt woud be eto ubstuen mutton occuring he ONA reclined Ys A) :ark) ark) bic park) e nak) @ Introduction Imagine the power of being able to predict the future, One of the fundamental reasons for studying science in general and geneties in particular isto be able to do just that. Here are some of the kinds of question that geneticists try to answer: » What will my baby brother look like? Will my children be able to see the difference between red and green even though Tean’t? If there is history of genetic disease in my family, what are the chances that my future baby might be affected? Other questions include: + How is it possible that I have blue eyes ‘whereas everyone else in my family has brown eyes? Can we find out who was atthe crime scene by analysing the DNA left behind? : » How cen ctops be genetically changed to improve their quality and quantity? + Isit possible to clone humans? ‘To answer these questions, we must understand the mechanisms of genetics. Genetics is the science of how inherited information is passed on from one generation to the next using genetic material ~ genes made of DNA. Chromosomes, genes, alleles and mutations ‘Assessment statements 4.1.1 State that eukaryote chromosomes ate made of DNA and proteins 4.1.2 Define gene, allole and genome. 4.1.3 Define gene mutation 4.1.4 Explain the consequence of a base substitution mutation in relation to the processes of transcription and translation, using the example of sickle cell anaemia, How DNA is organized somes are bundles of Ifyou could unwind a chromosome, it would be like unravelling a ball of string. A typical human cell contains enough DNA to stretch for nearly two metres, a ‘Acompute modelofa short stand of (ONA against the nucle membrane shoving a nucleat preIn eukaryotes that reproduce sexually, czamosounes lays comein paizs (except in sex cells or gametes) Humans have 46 _shuomosamesin 24 pais. The DNA in eukaryotes is associated ‘with proteins which help to Keep the DNA organized. Prokaryotes have only one chromosome, and the DNA isnot associated with proteins. Genes A genes hectable factor that-controls--specific chavacteristc, “Heritable’ means passed on from parent to ofispring,and ‘characteristic’ refers to genetic traits such as your hair colour or your blood type, The estimated 30.000 genes which you possess ae organized into chromosomes. ‘The genes which determine eye colour have more than one form. Some people have genes which give them brown eyes, others have genes for biueor green eyes. Such variations of @ gene are called alleles. Aneilleironespeciicfarm afa gene, differing from other alleles byane ara few bases, Alleles of she same gene occupy a corresponding place (locus) on each chomasome of a pais (see page 91). In some people, earlobes ae attached and in others, they are not, “The gene for this trait comes in two possible forms: one allele for sched earlobes and one allele for non-attached earlobes, ach vertical od of achuomosome's In order to find out which gene does what, alist must be made showing the order Called achat The aes wtwse the ofall the letters in the DNA code. Researchers use highly specialized laboratory tomas areoredtonetherscalled equipment to locate and identify sequences of bases. The complete set of an the cenomere Ts coloured elector ‘ trcrgpaph shows wo domatiss Inet central peconed “The complete genome of a few organisms have been fally written out. Among reer ‘these arc the fruit fly and the bacterium E. coli because these two organisms have ‘been used extensively in genetics experiments for decades. FFeach DNA dete base par (A, G-Q were typed out, ‘shun cllwould conan trove fetes than 10 se of eneyclopaeds Mutations ‘Amulation isa random. tare change in genstic material. One type involves a change of the sequence of bases in DNA, If DNA replication works correct, this should not happen (see Chapter 3, page 58). But nature sometimes makes mistake. For example, the base thymine (T) might be put in the place of adenine (A) along the sequence, When this happens, the corresponding bases slong mRNA ave altered during transcription, ram) Base substitution mutation The consequence of changing one base could mean thata diferent aminoacid placed inthe growing polypeptide chai. This may have litle or no effect, on the organism or it may have a major influence on the organism's physical characteristics. Look at the photograph of the fruit flies— it shows the consequence of armutation, The fut fi on the right hasan extra pair of wings. Mutations in fruit fies can also change ther eye colour, the number of legs, the shape ofthe wings as well as scores of other traits. rreeee eee eebttritireercsSas ie ss 108 for nce In humans, a mutation is sometimes found in the gene which creates haemoglobin for red blood cells This mutation gives a different shape to the haemoglobin molecule, The difference leads to red blood cells which look very different from the usual flattened disk pinched in the middle. ‘The mutated, d i made its discoverers think of a sickle (a curved knife used to cut tall plants). The condition, which results “The kind of mutation which causes sickle cell anaemia is called a ase subsitutjon ‘Mutation. In this case, one base is substituted for another so that the codon GAG becomes GTG. So, during translation instead of adding glutamic acid, which is the intended amino acid valine is added instcad. Since valine has a diferent shape and different properties from glutamic acid, the shape of the resulting polypeptide has a different shape and ‘40 does the red blood cell 4h oxmal rat ty and one th seidioral wings. 4 Tisee typical red blood cels and one scle-shped oneGenetics 1. — = ‘The symptoms of sickle cell anaemia are weakness, fatigue apd shortness of breath, Hom doyournekinesmears oy Ine tried a cflcenly hy he ieregulany-shaped red blood calls. n proce seceyorsperansne? addition, the haemoglobin tends to crsaliae with the red blood el, causing What doyou tk oul be them to be les flexible. The affected red blood cells can got stuck in capillaries 0 thepschologtfetsof blood flow can be slowed or blocked. being tod youhave sch agen maton? People affected by sickle cell anaemia havea risk of passing the mutated gene to + Hyouhadthe gee frie their offspring From a demographics point of view, the mutated gene is roostly cel anacria, would you want to ‘ow the chances of your future chidien geting” Would affect your decion of whether _ ee formato marrysemecne who Malaria sone ofthe most deadly esse inthe work However the praste which causes may bso carry the gene? rol has icy infec a person wf has sickle cel anarnia As aes people found in populations originating from West Africa or from the Mediterranean. « Fyaubad the opportunity to sffected by the condition have a natural esstace to naa genetically screen es the Statistical analy of he numberof eases of maa and the prevalence of sce cel anaemia emtayos of your fre chen, shows st there asrong covelation are thisisno coincidence ~ theres aca lok ‘would you doit you say ‘The eason wy the mutated gene has been passed on succes that thas eps ‘ yes that would you do othe people t avoid dying ofa, Natura selection Pas ensured that this gene’ equencyin ‘embryos whieh were discovered popuationsbalonces wih the narmal gene equency so that nat everyone has sce call tobe afacedbyskle cel nvemia and pat eveyone des of mala, snaer? Foran explanation of natural selection see page 140. Do ye thinkthat penis Should have the oppesturityto abort they knew ther unborn bby was affected? 4 Should cats fhe candsion be obiged to getadhe ram 1 Daawandlabe a ctvomorome Include the fotoing labels chromatld cenzomere.Indcate on ! genet counsalr before example of aoc having chide? 2 What isthe ference between analeleand.a gene? $3 Compre and contrast prokaryotic DNA and eukaryotic DNA 4 Gplain wy eukanyotichromasomnes says come in pis. @® Meiosis Assessment statements 42.1 State that meiosis isa reduction division of a diploid nucleus to form haploid nudei 4.2.2 Define homologous chromosomes. 4.2.3 Outline the process of melos's, including pairing of homologous | chromosomes and crossing over, followed by two divisions, which results in four haploid cells 4.2.4 Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down's syndrome (trisomy 21). 4.2.5 _ State that, in karyotyping, chromosomes are arranged in pairs according to their size and structure, 4.2.6. State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal di chromosome abnormalities. nosis of 42.7 Analyse a human karyotype to determine gender and whether non- cisjunetion has occurred.Meiosis se ccc). Although | meiosis has some similarities to mitosis (see Chapter 2, page 39), it is important to | One characteristic which makes meiosis unique is that each new cell which ests Som ithas only hal the numa of coromsasames that a typical cell that organism has, For example, humans have 46 chromosomes in thie cells but in thespemmandcge cells, them are oly 23 chromosomes in each cell. Cellswhich contain half the chr. led haploid cells. ith the full This type of cel division is called a reduction division because the number of chromosomes has been reduced, This reduction is necessary in gamete production because during sexual reproduction, each parent contributes 50% of the genetic information. “4 Four haploid potien cols formed by ‘The cells formed! from cell division are referred to as daughter cells. Meiosis, i genetic information of the parent cell Homologous chromosomes Ina diploid human cell, the 46 chromosomes can be grouped into 23 pairs of chromosomes called homologous chromosomes. Homologous means similar ip shapeand.size and itmennsthat the tun chisrmosomescarryshasamegenas, The reason there are two of each is that gne came from the father andthe other from, themathos. Although 2 pair of homologous chromosomes cary the same genes, they ate not ‘identical becausehe alleles far the genes from cach parent could be different, We use the letter mt denote the number of unique chromosomes in an organisin. In eukaryotes, there are pars of chromosomes. With two ofeach, that makes a total of 2n per cell Tiss a shorthand way of writing the chromosome number for haploid (n) and diploid (2n) cells. An egg and a sperm cell of a human cach, contain n or 23 chramasames sa. when they unite. there ace 2 or 46, -Genetics 1 Figure) Corshgove hapa DP Tomotpns centers cells metaphase! equator anaphese eae Re 49 8 See telophase a Figure 4.2 The sages of mele The phases of meiosis “Meiosis isa step-by-step proces by which a diploid parent cell produces four haploid daughter cells. Before the steps begin, DNA.zeplication allows the cello ‘make complete copy of te genetic information during interphase. This results in ‘each chromatid having an identical copy, or sister chromatid, attached to it atthe centromere In order to produce a total of four cells, the parent cell must divide two times: the first-meicticdinisionimakes two cells and then each ofthese divides during the (One of the characteristics which distinguishes meiosis fom mitosis (see Chapter 2, page 39) is that during the fist sep, called poophase | there ican exchange of (see Figure 4.1). This trading of segments of genes happens when sections of two homologous chromatids break at the same point, twist around each other and each connects to the other's intial position. ‘Crossing over allows DNA from.9 person's maternal. 0s to mix with DNA fiom the paternal chromosomes. In this way, the fecombinant chromatids ‘which end up in the sperm or the egg cells are a mosai¢of the parent cel’ original chromatids, Meiosis I takes place in order to produce two cells with 2 single set of chromosomes each (see Figure 4.2) Prophase 1 Chramasameshecame visihleas the DNA becomes more compact. 2, Homologous chromosomes, also called homologues, are attracted to-each other .~and paitup - one is from the individual's father, the other from the mother. 3 Grossingaveraccurs 4 Spindle fibres made from microtubules form. Metaphase | 1 Thehisalents (another name forthe pats of homologous chromosomes) ine upacrassthe els equator. 2 The nuclear membrane disintegrates. Anaphase | 1 Spindle fibres from the poles attach to chromosomes an pull them to opposite -polesofsbecellhe 2, 2 Usually, the chromosomes uncoil and new nuclear membranes form. 3 Many plats do not have a telophase stage. —— : At the end of meiosis |, cytokinesis happens: the cell spits into two separate cals. ‘The cells at this point are haploid because they contain only one chromosome of ceaclypair. However, each chromatid still has its sister chromatid attached to it, so ro $ phase is riecessary. ‘Now meiosis If takes place in order to separate the sister chromatids (see Figure 4.3), Prophase Il 1 DNA condenses into visible chromosomes again. 2. New meiotic spindle fibres are produced, Metaphase 1 Nuclear membranes disintegrate, 2. The individual chromosomes line up along the cquatar of each cell in no special orders this is called random orientation, 3 Spindle fibres from opposite poles attach to each of the sister chromatids at the centromeres. Anaphase It 1 Centroméres of each chromosome split, individual chromosome 2. Thespindle fibres pul individual chromatids to opposite ends ofthe cell. 3 Because of random orientation, the chromatids could be pulled towards ether of the newly forming daughter cells 4 Inanimal cells, ell membranes pinch ofF in the mide, whereas in plant cells xnew cell plates form to demarcate the four ces. sister chromatid as an Telophase I 1 Chromosomes unwind their strands of DNA. 2. Nuclear envelopes form aronnd each ofthe four haploid calls preparing them. foccytokiness. Down’s syndrome owns s sometimes diromosomes do not separate the way they aze expected to during the frst or second mefotie division. This results in an ynequal distribution of Ssoths penguin doesnot have the black markings characerstic of most penguins Let’s consider a condition called albinism, Most people and animals are unaffected by albinism and have pigmented skin, har, eyes, fur or feathers. But some people and animals lack pigmentation, An individual with little or no pigmentation is called an albino, We can trace the inheritance of albinism with a Punnett grid,In order to set up a Punnett gr, the following steps must be followed, Step 1 - Choose and indicate a letter to show the alleles | Use the big and small versions of letters to represent diferent alleles. Usually, 2 : capital letter represents the dominant allele and the lower ease version represents the recessive allele, For example: ‘A=dominant allele, allows pigments to forms a= recessive allele, albinism — fewer or no pigments, Se eae Sear te cas eae a Ties rocsing tes Neal hele of Get used to saying ‘big A and ‘tle a’ when reading alleles and genotypes. Also, pagrumraniraainula uit do not mix leters: ou cannot use P for pigmented and a for albino, for example. yay co snl in the capa ‘Once you have chosen a letter write down what it means so that it isclear which lowercase fours Daf ise allele is which, CFL Oo Py. 5 Uu W932 } 1 Step 2 - Determine the parents’ genotypes \ ‘To be sure that no possibilities are forgotten, write out all three possibilities and | | | 4 i decide by elimination which genotype or genotypes fit each parent. ‘The three possibilities here are: ‘+ bomozygous dominant (AA) —in this eas, the phenotype shows pigmentation; '* heterozygous (Aa) —in this case, the phenotype shows pigmentation but the heterozygote isa carrier of the albino alleles ‘+ homozygous recessive (aa) — in this case, the phenotype shows albinism, ‘The easiest genotype to determine by simply looking at the person or animal is aa, ‘The other two are more ofa challenge. To determine for sure ifthe individual is AAor Aa, we have to look for evidence that the recessive gene was received from an albino parent or was passed on to the individual's offspring, In effect, the only way to produce an albino is for each parent to donate one a ‘Step 3 - Determine the gametes which the parents could produce ‘An individual with a genotype AA can only make gametes with the allele A in them. Carriers can make A-containing gametes or gametes with a. Obviously, individuals whose genotype is aa can only make sperms or eggs which contain the allele, So you can record and label with A or aall the possible gametes. Step 4 - Draw a Punnett grid Once all the previous steps have been completed, drawing the actual grid is simple. ‘The parents’ gametes are placed on the top and side. As an example, consider a ‘monohybrid cross involving a female carrier Aa crossed with a male albino aa, You might guess that, since there are three a alleles and only one A, there should bbe 75% chance of seeing offspring withthe recessive trait. Bu this is not the case, Here is a grid withthe parents’ gametes.Courtingtemetofcomcangve ‘percentages of oping witha certain Phenotype nce each kenel'sone fring ‘Now you can fill n the empty squares with each parent's possible alleles by copying the letters from the top down and from left to right, When letters of I= theallele for type A blood; | = the allele for type B blood: | recessive allele for type O. ‘Crossing these together in al possible combinations creates six genotypes which sive rise to the four phenotypes listed ealier: + IM or I gives « phenotype of type A blood: PEF or Pi gives type B bloods gives type AB blood (due to codominance); ii gives type O blood. | Notice how the genotype IMP clearly shows codominance. Neither allele is masked; both show expression in the phenotype of type AB blood The sex chromosomes: X and Y ‘The 23rd pair of chromosomes are called the sex chromosomes because they determine if a person is male ora female. The X chromosome is longer than the ¥ chromosome and contains many more genes. Unlike the other 22 pairs of For ile coced ts 10 chromosomes which tate {thesex ofthe offiprng. Rather, ‘chromosomes, this isthe only pair in which itis possible to find two chromosomes theeveragetemperture ofthe | that are very different in size and shape. sandatoured he eggs dg | the 3 manth incubation paiod Tn human females th are two X chromosomes. When women produce gamcins, determines ifthe babis vl be rmalesor felon andoneY chromosome When males mraduce sperm cells balf of them contain = As a result, when an egg cell meets a sperm cell during fertilization, there is always a 50% chance thatthe child will be a boy and 50% chance that the child will be a girl (see Figure 4:7) ree ® @ A rons vpeoserestoya Gametes: Ox Xx Offspring: xy ‘The chances remain the same no matter hor has, many boys or gils the family already Genes carried on the sex chromosomes Because the ¥ chromosome is significantly smaller than the X chromosome, it has fewer loci and therefore fewer genes than the X chromosome. This means that sometimes alleles present on the X chromosome have nothing to pair up with. For example, a gene whose locus is at an extremity of the X chromosome would have zo counterpart on the Y chromosome because the Y chromosome docs not extend that for from its centromere “ThelettarsXand eerto hreresomes and nt tales, sotemssuch asdomnant and recess donot opGonetics 1 fecause the sent bn Dakon had ted-gfeen colour blindness, te condition somaqnes refed toas dtonsim and people who have tare ss tobe Saltontan. He asked that is yes te dwected ate his death (0 ‘ery his hypothess that the qd ise them was ve it as not. onever, the eyes were kapt in 1844 for study and, acer anda hatter certs used the sve “aml toidentiy the gene for ‘out blindness. esdes colour Diodes and haere futher examples 9 humane and oher armas ex linked was ae 1 Duchenne muscular dysvophy, 1 wt eye colour in fut hes; { calco-tortolseshelfurcolourla os, 9 Sex linkage i the X of the Y chromosome is said to “Tne sexlinked, Often genetic traits which show sex linkage affect one gender more than the other. Two examples of genetic trits which have this particularity are ‘colour blindness and haemophilia + Polourblindness isthe s.often green (rnd red. To people who are colour blind, the two colours look the same; they would rot see the difference between a green apple and ared apple for example « Haznophilis isa disorder in which blood doesnot dat properly, For most people, a small cut or scrape on their skin stops bleeding after afew minutes and? tventualiy a scab forms. This process is called clotting. People with haemophilia risk bleeding to death froin what most people would consider a minor injury ‘such asa bruise, which would rupture many tiny blood vessels, Such bleeding can also occur in internal organs, Medical treatments such as special injections help to give people affected by haemophilia a better quality of lie Alleles and genotypes of sex-linked traits Since the alleles for both colour blindness and haemophilia are found only on the X chromosome, the letter X is used in representing ther: fe X! = recessive allele for colour biindness; lle for the ability to distinguish colours; ele for haemophilia; lele for the ability to clot blood. In both cases, there is no allele on the ¥ chromosome, so Y is written alone without any superscript. Here are all the possible genotypes fof colour blindness: XX! gives the phenotype of a non-affeced ferygle: XOX? gives the phenotype oF a non-affected female who isa carriers XX" gives the phenotype ofan affected female, “XY gives the phenotype of a non-affected male ‘XY gives the phenotype ofan alfected male In the above list, B and b could be replaced by H and h to show the genotypes for haemophilia. Carriers of sex-linked traits Sexclinked recessive alleles such as-X* are rae in most populations of humans ‘worldwide, For this reason, itis unlikely to get one and much less probable to get two. This is why o few women are colour blind: their second copy ofthe gene is Tikely to be the dominant allele for full-colour vision and mask the recessive allele The same is true for haemophilia. [As you have seen, there areahree possible genatyps fr emales but only two i alg women can be heterozygous, X°X?, and as a result, they are the only ones who can be carters. f you ae in any doubt here, lok agein at thellistof genotypes for colour blindness. PY ark blindness. With just the oe recessive “lee b, a man willbe colour blind. This is contrary to what you have seen up to now concerning recessive alleles: usually people need two to have the trait and with one, they ate carrer. In ths case the single recessive allele in males determines the phenotype. Men cannot be cazriezs for X-linked alleles,out Me Applications of the Punnett grid Using the five steps of the Punnett grid method (see page 93), we are going to ‘examine the theoretical chances of how genetic traits can be passed on from one generation to the next, Short or tall pea plants? {ets frst consider a cross that Gregor Mendel did with his garden pea plans. He took purebred tall plants and crossed them with purebred short plants, Purebred ‘means thatthe tall plants’ parents were known to be all all and the short plants’ Pérents were known to be all short. In other words, he knew that none of the plants were heterozygous. He wanted to find out if he would get all tall plants, some tall and some short or all short. ‘The answer took months for Mendel to confirm but a Punnett grid can get the answer in seconds (see Key facts box): the result was 100% tal plant. Why? ‘Because in garden pea plants, the allele for tall is ominant over the allele for short plants, thus masking the shor trait ‘The name given tothe generation produced by across such a this isthe fist filial generation, usually referred to as the F, generation. What would happen if tall plants from the F, generation were crossed to make a second filial generation (F,)? ‘The Punnett grid gives us the result the T |r] te 4.) Te | te This grid can be interpreted in two ways: + there isa 75% chance of producing tall offspring and a 25% chance of producing short offspring; © 75% of the offspring will be tall and 25% of the offspring will be short ‘Although 75% of the plants are tall, they have differing genotypes, Some tall plants are homozygous dominant and others are heterorygous. Also, in areal experiment, itis unlikely that exactly 25% of the offspring would be short plants. The reason is essentially due to chance. For example, if 90 F, peas ‘were produced and all of them were planted and grew into new plants, there is ‘no mathematical way that exactly 25% of them woul be short. At the very best, 23 out the 90 plants would be short and that gives 25.56% that is as close as itis, possible to get to 259 in this case. Even ifa convenient number of plants were produced, such as 100 plants, farmers and breeders would not be surprised if they got 22,26 or even 31 short plants instead ofthe theoretical 25. Ifthe results of hundreds of similar crosses were calculated, the number would probably be very close to 25%. The same phenomenon can be seen in the gender of buman children, Although the theoretical percentage is calculated to be 50% girls and 50% boys, in reality, ew families have exactly half and half. Tis is due to chance. Inheriting your blood group Punnett grids can also be set up to predict blood type inheritance or the chance of «couple's next child having haemophilia or albinism, QO Meivestenschne rune id method + Stop 1 ~ Choose alte: Taleo fora tal plane, {alee for a sort plant ‘Step — Parents genotypes ‘Tot the puede all anc ttforthe sort + Stop 3 Determine gametes: ‘he purebred tll parent can only qe, short patent can conlyaivet «+ Step 4~ Draw Punnett tlt T || te t|t| te + Step 5 Interpret gi 10% ‘Teand willbe al, so wl be shot @ Wren camined corey by experts insta, some of Gregor Mende’ reat seem t00.g000%0 be tue. Hs numbers donot show the expected vrations which ae \yplay foun by farmensand researchers when breeding plants Whathappened? bide thnkthat the unexpected resus were cue tomistaes andsohe orated theme his firings? Or did he prrposeully change the numbers so they would with what he wanted show! Such a practice is called fudging the data and t is consered unethical Noone rows why Mendelspumbes ae soperec and the mysexy may ever be ehiidated How can we be se that made sciottic studies are fe om Red data?Genetics 1 ‘These ave the symbols used in pedigree charts. ale =Female (square = mate filed cacle= aferale wba ossenves the tat bing studied Wied square =mate who possesses the tat beng studied [vertical ine =the lacenship parertsofsing ‘—horzontal ine between aman ‘and aweman means they ate the paentswho had the offspring 9 Worked example Isit possible fora couple to have four children, each child showing a different | blood type? | Solution | ‘There is only one way for this to happen: one parent must have type A blood but | be a carrier ofthe allele for type O blood and the other parent must have type Blood and also be a carrer of the ofthe allele for type O blood (if necessary, refiesh your memory ofthe blood group alleles on page 95) ‘The cross would be Ti and the grid is shown below. See if you can determine the phenotype of exch child before eading on, [efi] ® [me] wi vf So, would itbe possible fr this couple to have four children and all of them have a diferent blood group? Yes. Would it be possible fr the same couple to have four children ond al of them have type AB blood? Yes, bt it would not be likely. ‘This question is similar to Could a couple have 10 children, all of them gins?” Itis possible but statistically unlikely. = ‘Gregor Mendel conser tobe the founding ater of genetics Ard ye Ie mary other ‘elengss wath radical new eas he was nt recognize or commended fos work histfetime. Why dot scents inthe second haf ofthe 1th century not ake notice of Mendel when he tried to pir ou the enpvtance ofthe mathematical tos in ofpring? He Showed his results om yeas of ross breeding plants as welas al his painstaking clelatons and stitcs and yt very few peopl took is ideas evo. ‘ys that the scientiic community so reluctant otk on new eas and paradigm shits? Does tis reluctance have a postive o negative impact onthe advancement of Ibleacceprabl thata scientists new ideas are not adopted jst because he o she snot ‘well nown pesson with an esablshed reputation? iersly should the new ideas ofa \wal-known scents be embraced soley because hear she has sold reputation? How it oss to determine which new eas ar val an wich ones should be ejected? Pedigree charts ‘Thetermpedigres sofas ta the cocond of an atanism’s ancestry. A pedigree al such asa racehorse or 2 show dog is an animal whose owner can prove the true descent ofthe horse oF dog based on official documents about its parents and grandparents. Pedigree charts are diagrams which are constructed to show biological relationships. In genetics, they are used to show how a trait can pass from one {generation to the next. Used in this way for humans, a pedigree chart is similar to @ family tree complete with parents, grandparents, aunts, uncles and cousins. "To build such a chart, symbols are used to represent people. The Key fact box (left) shows you these symbols and what each represents. Preparing a pedigree chart helps in preparing Punnett grids for predicting th likely outcome of the next generationFis Example 1 - Huntington’s disease ‘Huntington's disease (Huntington's chorea) is caused by a dominaptallele which O7# suauailLaofer toby the Iottor H. This genetic condition causessevercly debilitating Teaunas bathe pons Joastshowantlepesoncabontoaes ome Bere ei gainer eneeeeerveeee a certain unt they have started a carer and possibly started family. Mowe. Wished The symptoms nce icy wig, sein wing, Winine — egmerbeet totes few year, the person loses complete control of his or her muscles and dies an early death. Since itis dominant, all itiakes is one H in the person's genetic makeup to cause the condition, In the pedigree chart in Figure 48, the symbols indicate that the unafected . members ofthe family are the mother, the frst child (a gil) and the Fourth child (« boy). Those who are affected are the father, the second child (a boy) and the third child (a gil) To work out ifthe father is HI or Hh, consider the Peer fact that some of his children co not have the trait This prows that he soust haye given one to each of them, Hence, he can only be Hh and not HH. eT E a Example 2 ~ Codominance in flower colour This pale rt shows how pikes can ace pute ed Codominance in certain flowers can create moze than two colours, so a pedigree‘ rklowercan ase can help keep track of how the offspring got their phenotypes. For example, in tea purebred snapdragon flowers, sometimes white x red = pink. ‘edones white shops epee ‘The system of eters for showing flower olourin snapdragon flowers uses a prefix wht omen nan ey shapes which refers tothe gene that codes for flower colour pts asupescrigt which Cnycudcumum sabes of refers to the specific colour, R (red) or W (white). r = eer ere. So theallles for codominant lore colour are: “4 tet * CF for red flowers; > © OF for white Hower Same expert ebtng > wha pnsapagon tones |S result codominanee cr partal 1 Censnna tampled deses thecedomince explain ‘The genotypes and their phenotypes are: © C1CE makes red flowers; ‘= CYCW makes white fowers; © CCW makes pink flowers, 4 Puze-bred rec flovesed and white Noweredsrapdiagon pans can : sometimes produce pink flowered sping For codominant traits, grey is used in pedigree charts rather than black or white. Example 3 - Codominance in the shape of red blood cells ‘The prefix Hb refers tothe gene that codes for haemoglobin (the molecule ia red blood cells). The superspript letter is for the typical shape of haemoglobin, A for normal and $ for the shape that causes sicile cells (see page 83). The genotypes and phenotypes are as follows: + HAHA genotype generates haemoglobin that results in the phenotype with disk-shaped red blood cells (the person has normal blood); + HSH genotype generates haemoglobin that results in the phenotype with curved red blood cells (the person has severe anaernia and sickle-shaped cell); + HbAHD* genotype generates some of each type of haemoglobin because the alleles show codomrinance (the person, who is said to have sickle cell trait, has fewer sckle-shaped cells so the anaemia is much les severe this person also has some resistance to-malaria), Asinthe stem tor shows 004 roups we use dierent superscip eters fr aferent codominanealelesIn fomies where gene csease hes been passed down generation afte generation, enous questions arse, someones caret, shoul they have clden knowing that they might transmit the gene? Hom wouid fel inoning or rot knowing = Fyou ad the ‘ene? How mht patents el when ‘hey find out they have parsed "he gene onto the ofspung? ‘sitaicun tor people who have genetic densest find Someone to mary? Ajob? Life Ieswance? Shoule emoayes or insurance companies have the right to now it someone his genetic dvease oristhat amie When eves is scieening appropriate (geting a genetic test done onan unto cle)? 11 ag the Cand Cakes fr codominancein rapeiagn fewer clot show how two Foca have Some ube awesed fecha some pnkfowereotipng esos ce were offspring withinone generation raw a edhe chart o the two generations descbed in eercse 1, 13 Lookatthe ged below shaming the chances that 2 State the genorype ofthe mother and father 2 State the poste genotypes ofthe ots and boys, € State the phenowyper ofthe gis and boy, 4 Who are the caries In thisfamiy? (© Whotarethe chances that he patents net cd nl be 3 hasopiet [| 2 Frese | ey 2 couple children might have haemophia, y 28 fe | xy © Genetic engi neering and biotechnology Assessment statements 44.1 Outline the use of polymerase chain rea minute quantities of DNA “42 State that, in gel electrophoress, fragments of ONA move in an electric field and are separated according to thelr sive 4:22. Sate that gel electrophoresis of DNA is used in DNA profting 44.4 Describe the application of DNA aso in forensic investigations 44° Analyse DNA profies to draw conchsions about paternity or forensic investigations. 44.6 Outline three outcomes of the genome. 447. ‘State that, when genes are transfered between species, the amino 244 Seauence of polyoeptides translated from them is unchanged because the genetic code s universal “48 Outi abasic tecinique use for gene transfer invohing plasmids, 2 host call bacterium, yeast or other cell, estrction enzymes (endonucleases) and DNA ligase 4.4.9 State two examples ofthe current us animals, 44.10 Discuss the potential benefits and possible harmful effets of one ‘example of genetic modification, 44.17 Define cone 44:12 Outline a technique for cloning using ciferentiatad animal ells 4413 Discuss the ethical issues of therapeutic cloning in humane. ction (PCR) to copy and amplify Profiling to determine paternity and sequencing of the complete human 825 of genetically modified crops or - 7 : 6 boty aoe arene| Exploring DNA " DNA ist the very core of what gives animals and plans their uniqueness. We are | now going to look atthe astounding genetic techniques, developed in the past few decades, which enable scientists to explore and manipulate DNA. These include: Look at this nage What do you | 1 + copying DNA ina laboratory — the polymmerasechain reaction (PCR); ‘think about the ides expressed in : 7 : thecaoton? using DNA to seuss] ic ouener's identity DNA profiling: a a Seat 5 —Buvisat. . ake n = 3 "These techniques offer new hope for obtaining treatments and vaccines for ‘ diseases; for creating new plants for farmers; for freeing wrongly convicted people from prison (thanks to DNA tests proving their innocence. ‘Techniques such as gene transfer and cloning have sparked heated debate. sit ‘morally and ethically acceptable to manipulate natare in this way? Are the big biotech companies investing huge surns of money into this research to help their fellow citizens or are they jst init for the economic profit? Concerning cloning and stem cel research, is it morally and ethically acceptable to create human ‘embryos solely for scientific research? ante nginecng ows ving ‘tgnimsobeconideed nanew Part of being a responsible citizen is making informed decisions relating to these gh os tbrarevcfONA Aifficult questions. Its not just technical complexity that makes these questions : difficult it s also because humans have never had to face them before. iy | ic Polymerase chain reaction (PCR) [ PCR isa laboratory technique which takes avery small quantity of DNA and. j opiesal the muceic acids in to make mnlions of copics af the DNA (see i Figure 4.9). PCR is used to solve a very simple problem: how to get enough DNA | Jobeableto analyseit { small quantity of large quantiy of 4 Figure Ants impose with DNA goes in DNA comes out the OHA fompistone or afew ces FER way ofeatng hat enoush i Q 8 i i ; i Dadfronscanbe ented _ thermocycler copies segments of DNA ‘When collecting DNA from the svene ofa crime or from a cheek smear, often only a very Iimited number of cells are avaiable. By using PCR, forensics experts ‘or research technicians can obtain millions of copies of the DNA in just afew hours, Such quantities are large enough to get results from, notably using gel lectrophoresis (see overleaf)