a a an eee Ceame i 143 [a] cuomosomes ey) ) CHAPTER 5 PRINCIPLES OF INHERITANCE AND VARIATION 5.1. Mendel’s Laws of Have you ever wondered why an elephant always gives birth only to a baby elephant and not some other animal? 5.3 Inheritance of Two Genes Or why a mango seed forms only a mango plant and not 5.2. Inheritance of One Gene 5.4 SexDetermination any other plant? 4 Given that |iiey do, are the offspring identical to their 165 Mutction parents? Or do they show differences in some of their 5.6 Genetic Disorders characteristics? Have you ever wondered why siblings sometimes look so similar to each other? Or sometimes even so different? ‘These and several related questions are ded scientifically, in a branch of biology known ‘This subject deals with the inheritance. variation of characters from parents to offspring. s the Humans kr one of the ©: reproduction. They exploited the variations that_were w from as early as 8000-1000 B.C. that ral uses of variation was hidden in se: | natu in the wild populations of plants and animals tofsel Se ‘tively breedjand select for organisms that poss in jaracters, For example, through Sbudive and famconad artificial sel ‘ation from an < ae we, is onA f yavanls of gene wrth of aburdance f(REASON for serecTinG (6A) (7) Plein sativum / 1 show Life span —+ morPb..ssive trait we have well-knowy 2 eaaly avoulable @ 3. conbsoltad coallai™pousible inkled | el fical pybriclsalon @ i] 4y Creer fewer) ree 4. kange progeny por. moling (lange domplng sire) S. pure Lins Chomerygous plat), ite Lely on Jas borg pored of Umi / gensrokons REASONS FOR LATE RECOBNITIontricted OF _menot. ‘S Work fi 1. Commumcaion was nat cally 2 Concept of "FACTOR", Stable discee unis aa vot P | 3. No physcol proot of ae | | 4 Figure 5.1 Seven pairs of contrasting traits in pea plant studied by Mendel breeds, e.g., Sahiwal cows in Punj Must, however, recognise that thougy, ancestors knew about the inheritay,." characters and variation, they ha , little idea about the scientific basis of, phenomena. fiom Sabirwry 5.1 Menpev’s Laws or Inne: FATHER OF GENETICS TANCE Itwas during the mid-nineteenth century thy headway was made in the understanding inheritance. onduct and. proposed Jaws of inheritance in living organisms. Dur, Mendel’s investigations into inheritan: patterns it was for the first time that statisti analysis and mathematical logic were app to problems in biology. His experiments had a large sampling size, which gave great credibility to the data that he collected. Also. the confirmation of his inferences from experiments on successive generations of his test plants, proved that his results pointed t general rules of inheritance rather than bein unsubstantiated ideas. Mendel investiga characters in the garden pea plant that w: manifested eg.. tall dwarf plants, yellow or green seeds. This allowed him to set up a basic framework 0! rules governing inheritance, which ws expanded on by later scientists to accour all the diverse natural observations ar! complexity inherent in them. 5. Mendel conducted such fartitic ‘using several breeding line is one that, having Mendel selected 14 true-breedins plant varieties, as pairs which were similar except for one characte! V"" contrasting traits. Some of the contrasting traits selected were smo!” wrinkled seeds, yellow or green seeds, inflated (full) or constricted or yellow pods and tall or dwarf plants (Figure 5.1, Table 5.1) . 4W 4 oF INNERTANCE AND VARIATION e on i j:contrasting Traits Studied by pile ON rendel in Pea 5.2 Let us take the example of one such hybridisation experiment carried out by Mendel where he crossed tall and dwarf pea fans to sty theiietance of one gene] generate plants of the first hybrid generation. MEETS This generation is also called the] Filial, trai ther parent was not seen in “ ie J 4s 4 io of Mende! then Sepa ee we we ee ‘dwarf: the character that was not seen in Kenai: -tnepeupeseiont) Ste, generation was now expressed. The igure 6.2 Steps in making a croes in pea if tralts were identical to their parental type and did not show any only one of results were obtained with the other traits that he studied: ‘Progeny or the F, )Mendel observed that all the F, progeny plants were tall, like one of its parents; none were dwarf (Figure 5.3). He ited] the tall F, of plants that were dwarf were that the parental traits was expressed in the F generation while at ' the F, stage bo oe 1 ‘Transfer of pollen (Figure 5.2). He collected the seeds produced made similar observations for the other pairs of traits - he found that the]F, always Blunts and to his surprise found that in the 1/4" of the F. a ts all the offspring were either tall or dwarf, none were of in- Simi th SS (Pollination) as a result of this cross and grew them to one of the parenis, and that “Gog etation some of the offspring were trate 2 Pants while 3/4* of the F,, plants were tall. The tall and ight (Figure 5.3), the traits were expressed in the proportion 3:1. ‘The did not show any blending at either F, or F, stage.Parental | Cours Lime) x C ARTIFICIAL HYBRIDISATION) Tall Dwarf a T tt aes)Geries, therefore, an, @, t ) the They Gamsles ‘) 61 contain the information that \, F, generation (SELF POLLINATION) oFlapale of contrasting tts a \Wiwilasmalieles, i.c., the slightly different forms of the same Tall Tall gene, Ifwe use alphabetical symbols for each gene, then the capital lett is used for the trait expressed at F, stage and the small alphabet for the other trait. For example, in case P, generation ‘equired to express a particular (3) | in an organism, MESWBICh cody of the character of height, T is used for the Tall trait and t for the ‘dwarf. and T and t are alleles of each other Tal: doorf aa ta pwart Hence, in plants the pair of alleles 3:1 tt for height would be TT, Tt or tt pew 5.3 pga reoetics "Mendel also proposed that in a true of monohybrid cross breeding, tall or dwarf pea variety TT and tt, respectively. TT and tt are called the genotype of the plant while the descriptive terms tall and dwarf are the phenotype. What then would be the phenotype ofa plant that had a genotype Tt? As Mendel found the phenotype of the F, heterozygote Tt to be exactly like the TT parent in appearance, he proposed that In this case T (lot tallness) is dominant over t (for dwarfness), that is recessive, He observe! identical behaviour for all the other characters /trait-pairs that he studies It is convenient (and logical) to use the capital and lower ¢ alphabetical symbol to remember this concept of dominan recessiveness. (Do not use T for tall and d for dwarf because you w!!! find it difficult to remember whether T and d are alleles of the sa!” gene/character or not). Alleles can be similar as in the case of homozygo'" TT and tt or can be dissimilar as in the case of the heterozygote Tt. Sin e of an and Home eygows dommart TT Horrosygeut Aeceatve | Tt Keleno ry sou comunaw: ttinERTANCE AND VARIATION \y pues OF «js heterozygous for genes controlling K a ng tsa monk ybrid and the eee nd tt is a monohybria or Se observa ‘pservation that the recessive parental a oe without any blending in the F, we can infer that, when the tall and Dwarf ( eN . ‘one parent say, through the pollen, and t from the other parent, then through the egg, are united to produce zygotes that have one T allele and one t x q allele. In other words the hybrids have(Tt) Since Tall See these hybrids contain alleles which express Y S Cameres¥ @) () PARENTS Tall TT Game . This segregation of alleles random process and so ® shas F, ae verified by the results of the crossings. In this a the gametes of the tall TT plants have the allele NG ‘and the gametes of the dwarf tt plants have the allele t. During fertilisation the two alleles, T from contrasting traits, the plants are heterozygous. The production of gametes by the parents, the formation of the zygotes, the F, and F, plants can be understood from a diagram call @ asshown in Figure 5.4. It was developed by a British _ F: generation: PUNNETT . It is a graphical Sere: ‘Gametes ‘The possible gametes are written on two sides, . usually the top row and left columns. All possible maiasree roto tall: cwart 1 are represented in boxes below in the Genotypic ratio : TT : Tt : tt ‘Squares, which generates a square output form. 7 2:1 The Punnett Square shows the parental tall TT Figure 5.4 A Punnett square used to a typical monohybrid peat a) Plants, the gametes prose conducted by Mondel Plants of geno i 1 Tt progeny. 1 between true-breeding tall plants ‘symbols § type Tt are self-pollinated. The and true-breeding dwarf plants Yabo ena and ¢ are used to denote the female the gen ne (Pollen) of the F, generation, respectively. The F, plant of Tandt FY Pe Tt when self-pollinated, produces gametes of the genotype Bains of qt Proportion. When fertilisation takes place, the pollen Beno Pe T have a 50 per cent chance to pollinate eggs of the 250 per gan Wellas of genotype t. Also pollen grains of genotype t have “ent chance of pollinating eggs of genotype T, as well as ofgenotype t. As a result of random fertilisation, the resultant zygor, be of the genotypes TT, Tt or tt. From the Punnett square it is easily se that 1/4" of the rar fertilisations lead to TT, 1/2 lead to Tt and 1/4" to tt. Though tix. have a genotype of Tt, but the phenotypic character seen is ‘tall’. a, ; 3/4" of the plants are tall, where some of them are TT while others, Tt. Externally it is not possible to guish between the plants wit the genotypes TT and Tt. Hence, within the genopytic pair Tt only on, character ‘T’ tall is expressed. Hence the character T or ‘tall is said j, dominate over the other allele t or ‘dwarf’ character. It is thus due to thi. dominance of one character over the other that all the F, are tall (thoug the genotype is Tt) and in the F, 3/4" of the plants are tall (though genotypically 1/2 are Tt and only 1/4" are TT). This leads to a phenotypic ratio of 3/4" tall : (1/4TT + 1/2 Tt) and 1/4" tt, ie., a 3:1 ratio, buta genotypic ratio of 1:2:1. ‘The is mathematically condensable to the form of the binomial expression (ax +by)¥ that has the gametes bearing genes T or t in equal frequency of 4. The expression is expanded as given below C/2T+ 1/2¢) = (1/20 + 1/28) X(1/2T + 1/28) = 1/4 TE + 1/20 + 1/4 te Mendel seif-pollinated the F, plants and found that dwarf F, plants (Canck CROSS) continued to generate dwarf plants in F, and F, generations. He concluded (000 Wty pawntal that the geno homo: [CORE jenclype) _ he would have got had he self-pollinated a tall F, plant? From the preceeding paragraphs itis clear that though the genotypic Test cross, Patios can be calculated using mathematical probability, Case wr — (00 wim AL the phenotype of a dominant trait, it_1s not possible to know the domunant reassive —_enotyple composition. That is, for example, whether a tall plant from F. poset , fee ) or, has TT or Tt composition, cannot be predicted. Therefor re, to determine the genotype of a tall plant at F,, Mendel crossed the tall plant from F with a dwarf plant. This he called a€est eros | Ina typical test cross an ; The progenies of such a cross can easily be analysed (0 predict the genotype of the test organism. Figure 5.5 shows the ts of typical test cross where! Using Punnett square, try to find out the nature of offspring of a test cross [RECIPROCAL CROSS) What ratio did you get? Using the genotypes of this cross, can you give a general definition fo" @ test cros:ON -£ AND VARIATI {pITANC! oF NH ts Phenotype’ unknown), {9 » WW<— —>Ww. Ww_| © (Genotype 3 All flowers are violet Ci00'/.) Half of the flowers Unk is half of the flowers —, Se peace Unknown flower iaaaRRRaR? Figure 5.5 Diagrammatic representation of a test cross are violet and ( te, ) Based on his observations on monohybrid crosses Mendel proposed two general rules to consolidate his understanding of inheritance in eens monohybrid crosses. Today these rules are called the Principles or OF THE GENEL laws of Inheritance: the First Law or Law of. Dominance and the Second Law or Law of Segregation. SRUAWoNDominanee) 3) wn veal 0 Pacts cra ee see uns cee) C4) Fecetsite - exprcsed 4m I, alin LD errata Marpac! (i) Factors occur in pairs. the abence aan doreunant Wi) Ina dissimilar pair of factors one member of the pair dominates the other (recessive). oak law of dominance is used to explain the expression of only one of paretal sina monohybrid cross in the F, and the expression tbat inthe Fy ta expr So explains the proportion of 3:1 obtained at the Fy. This ley Chaw furrly of Garmiles) — universal Law is ad that a the fact that the ters are recovered as such in the F, generation Shese is not seen at the F, stage. Thou ‘€ous parent Produces all gametes that are similar meat ™¥¢0u8 rox Produces two kinds of gametes each having tion, Wual propo; ooo a7ep flower colour Mbabitar cd ay starch syrah oP pea coat cOloiu ve Ardulowian tows W 4 5.2.2. I{lri¢omplete Dominance; | i aoe When experiments on peas were repeated tisins 9 traits in other plants, itwas found that sometim,.. ted ie ett we the F, had a phenotype that did not resemble « of the two parents and was in between the two. ‘Th. Sain b d inheritance of ower colour in the dog fi ic {(Sniapdiragon or Antirrhinuum spJis a good examp) to understand incomplete dominance. In a cross between true-breeding red-flowered (RR) and true breeding white-flowered plants (rr), the F, (Rr) was pink (Figure 5.6). When the F, was self-pollinated the F, resulted in the following ratio 1 (RR) Red: 2 ase (Rr) Pink: 1 (rx) White. Here the genotype ratios were exactly as we would expect in any mendeliar monohybrid cross, but the phenotype ratios had changed from the 3:1 dominant : recessive | What happened was that| was not completely this made it possible to ras pink from RR (red) and rr (white). Explanation of the concept of dominance: What exactly is dominance? Why are some alleles dominant and some recessive? To tackle these questions, we must understand what a gene does. Every gene, as you know by now, contains: the information to express a particular trait. In a diploid organism, there are two copies of each gene, i.€., as a pair of alleles. Now, these two alleles need not always be identical, as in a heterozygote. ‘One of them may be different due to some changes that it has undergone (about which you will read farther on, and in the next chapter) which modilies the information that particular allele contains. Let's take an example of a gene that contains the information for producing an enzyme. No there are two copies of this gene, the two allel forms. Let us assume (as is more common) th’ the] that is needed for the transformation 0! * substrate S. Theoretically, the} ‘Ufrihe normal/less efficient enzyme, or Ui non-functional enzyme, or Gir no enzyme at all Gametes Results of monohybrid cross in the plant Snapdragon, where one allele is incompletely dominant over the other alleleITANCE AND VARIATION oF INHER! piss case, the modified allele is equivalent to the unmodified allel smite Or ce te same phenotype/trait, Le., result in the transformation je.ttiiPe'g, Such equivalent allele pairs are very common. But, if the of subst yces a non-functional enzyme or no enzyme, the phenotype may auciep™4 The phenotype/ trait will only be dependent on the functioning pectected Fed allele. The unmodified (functioning) allele, which represents afneunm™® phenotype is the dominant allele and the modified allele is neoriginal P essive allele, Hence, in the example above the recessive trai y the sere to non-functional enzyme or because no enzyme Is produced, se epual dominance @ both The 2.2.2 esemminaio63) spanowwe were discussing crosses where the F, resembled either of the tro parents (dominance) or was in-between (incomplete dominance). But, nite case of o-dominance the F, generation resembles both parents. A good example is different types of red blood cells that determine [ABO — chromosome F iood waping in human beings) ABO blood groups are controlled by ‘hegeneL The plasma membrane of the red blood cells has sugar polymérs that protrude from its surface and the kind of sugar is controlled by the gene. (hie gene () has three alleles Ft Pand i The alleles P and P produce slightly different form of the sugar while allele i does not produce any sugar. Because humans are diploid organisms, each person possesses any two of the three Igene alleles. and F are completely dominant over i, nother words when F and iare present only F expresses (because i does not produce any sugar), and when FP and iare present I? expresses. But when F' and F are present together they both express their own types of sugars; this is because of co-dominance. Hence red blood cells have both A and B types of sugars. Since there are three different alleles, there are six different combinations of these three alleles that are possible, and therefore, a total of six different genotypes of the human ABO blood types: (Table 5,2). ow many phenotypes are possible? 4 / Table 5.2: Table Showing the Genetic Basis of Blood Groups in Human Population anhgens eben 7 qher® Ccdomitant )[rigioreoev? Do you realise that the example of ABO blood grouping J gene efeclé wie Py a good example of Mitiltiple alleles? Here you can see that the n chorocled more than two, Le., three alleles, governing the same characte on ethan two, Le., three alleles, gc an individual only two alleles can be present Occasionally, a single gene product may produce more than one cif BB © Round Sor exatnhk jis controlled by o: Jaw ‘or example, Y One gene. rege 8 has two alleles (B and b}, Starch ts synthesised effectively by homozygotes and therefore, large starch grains are produced. In contras,_ also pra Since BL: Round, (®B)homozygotes have lesser efficiency in starch synthesis and produ, valenredale 4tach “Smaller starch grains. After maturation of the seeds, BB seeds are rouny . and the bb seeds are wrinkled. Heterozygotes produce round seeds, an bb ninlled ‘so B seems to be the dominant allele. But, the starch grains produced are : gral) starch grein of intermediate size ir(Bb)seeds. So if starch grain size is considered as the phenotype, then from this angle. the alleles show incomplete dominance, Therefore the Product that it has information for. It depends as much on the gene product and the production of a particular phenotype from this produci as it does on the particular phenotype that we choose to examine, in case more than one phenotype is influenced by the same gene. mononverin Cone sere) 5.3 InweRrrance or Two Genes A a Mendel also worked with and crossed pea plants that differed in two fa i 5 characters, as is seen in the cross between a pea plant that has seeds with yellow colour and round shape and one that had seeds of green colour and wrinkled shape (Figure5.7), Mendel found that the seeds resulting j DIHYERID (meget) from the crossing of the parents, had yellow coloured and round shaped pops A? seeds. Here can you tell which of the characters in the pairs yellow ot be green colour and round/wrinkled shape was dominant? Thus, yellow colour was dominant over green and round shape Q what ateud CMorol2i) dominant over wrinkled. These results were identical to those that he got + AABb when he made separate monohybrid crosses between yellow and green seeded plants and between round and wrinkled seeded plants + Aa bBcc Let us use the genotypic symbols ¥ for dominant yellow seed colou, = AABbCc and r for “wrinkled seed shape/ The genotype of the parents can then be written « RRYY and rryy. The cross between the two plants can be written dow? as in Figure 5.7 showing the genotypes of the parent plants. The game' RY and ry unite on fertilisation to produce the F, hybrid Rr¥y. Whe" Mendel self hybridised the F, plants he found that 3/4" of F, plants ha yellow seeds and 1/4" had green. The yellow and green colour segregat! ina 3:1 ratio. Round and wrinkled sced shape also segregated in a 3) ratio; just like in a monohybrid cross,IATION ig AND VAR eTAne’ of" ee. oom " x mm © | © © Round yellow MONOHYBRID RATD 1S. MAINTAINED, Renee A. ae 7 ‘dihybrid cross where the two traits: parents differed in two pairs of Seed colour and seed shapeon N 5.3.1 Law of Independent Assortment In the dihybrid cross (Figure 5.7), the phenotypes round, y; wrinkled, yellow; round, green and wrinkled, green appeared i, | ratio 9:3:3:1. Such a ratio was observed for several pairs of char | that Mendel studied The ratio of 9:3:3:1 can be derived as a combination series of 3 y 1 green, with 3 round ; 1 wrinkled, This derivation can be w as follows: (3 Round : 1 Wrinkled) (3 Yellow : 1 Green) = 9 Round, Yellow Wrinkled, Yellow: 3 Round, Green : 1 Wrinkled, Green Based upon such observations on dikybrid crosses (cro: plants differing in two traits) Mendel proposed a second set of generalisatic that we call Meidel’'s Law of Independent Assortmenty The law states that en two pairs of traits are combined ina hybrid, segregation of one pair is independent of the other pair of characters'/ ‘The Punnett square can be effectively used to understand 1: 2S between ‘Consider segregation of one pair of genes R and r. Fifty per cent of the gametes have the gene R and the other 50 per cent have r. Now besides eact gamete having either R or r, it should also have the allele ¥ or y. The important thing to remember here is that Segregation of 50 per cetitR ‘(Wand 50 per centy. Therefore, 50 per cent of the r bearing gametes has ¥ and the other 50 per cent has y. Similarly, 50 per cent of the R bearing gametes has ¥ and the other 50 per cent has y. Thus there are four genotypes of gametes (four types of pollen and four types of eggs} The four types are RY, Ry, r¥and ry each with a frequency of 25 per cent or 1/4" of the total gametes produced. When you write down the four types of eggs and pollen on the two sides of a Punnett square it is very easy to derive the composition of the zygotes that give rise to the F, plants (Figure 5.7). Although there are 16 squares how man) different types of. genotypes and phenotuves are formed? Note them down in the format given.7 Can you, using the Punnett square Re work out the genotypic ratio at the F, stage and fill in the format given? Is the genotypic ratio also 9:3:3:12 [29:12 94:9: 1:Q: 1 pes 5.3.2 Chromosomal Theory of Inheritance Mendel published his work on inheritance of characters in 186° but for several reasons, it remained unrecognised till 1900. Firstly aeWW ass OF NHERTANCE [AND VARIATION y qi a pe recs Sec now) in those days and his work In 11004 ate ede ey aie canis that contra (or), Hugo de we te Mender’s words) as stable and discrete units that controlled ~ ? Coubrumy prod) in Mone raits and, of the pair of alleles which did not ‘blend es geexpreesions.. was not accepted by his contemporaries as an Get Cones each othe pe apparently continuous variation seen in nature aan ) explanation fs approach of using mathematics to explain biological S Gch von Techean ne on Fa ee unacceptable to many of the C gon thon pea nenomen® time. Finally, though Mendel's work suggested that Pe f o | njotoists of vere discrete units, he could not provide any physical sgeqisoN FORRES DIScovERY factors ene’ Tarence of factors or say what they were made of “pe MENOEL’S WORK, | | proof for t 1 uae oy atoleta + moDrematic amabysld Mou ‘characters. AIS. by this time due to advancements in microscopy that were taking place. scientists were able to carefully observe cell division. gy fee ancile. wet ed to the discovery of structures in the nucleus that appeared to Re able and divide just before each cell division. These were called Cee crromesomes (colored bodies, as they were visualised by staining). By 4 thecrtcal ‘902, the chromosome movement during meiosis had been worked out noted that the behaviour of Chromosomes was parallel to the behaviour of genes and used m (Figure 5.8) to explain Mendel’s laws (Table 5.3). Recall that you have studied the behaviour of chromosomes during mitosis (equational division) and during mejgsis (reduction division). The important to remember are thal two alleles of a e located on homologous sites jlogous chromosomes: © Homolo; sight a me ein sepouale) ar G Meiosis! Meiosis 11 Germ cells anaphase anaphase —Chaplotel ) sompln3 a epi and germ cell formation in a cell with four chromosomes. __ an you see how chromosomes segregate when germ cellsTable 5.3: A Comparison between the Behaviour of Chromosom,, and Genes ‘igure 5.9). 1, understand this, compare the chromosomes of four different colour in the left and right columns. In the left column (Possibility 1) orange and green is segregating together. But in the right hand column (Possibility Ml) the orange chromosome is segregating with the red chromosomes Possibility I Possibility I ‘One long orange and short green One long orange and short red chromosome and long yellow and chromosome and long yellow and short red chromosome at the short green chromosome at the ‘same pole same pole Meiosis I - anaphase Meiosis I - anaphase Homologous toa, R. a chromosome : Ae Meiosis Il - anaphase 0) WD Figure 5.9 Independent assortment of chromosomesICE AND VARIATION (OF INHERITAN pencirles Boveri argued that the sutton and pe ming this synthesis of ideas, experimental verification of re omosomal theory of inheritance by, ae ‘gues, led to discovering the basis for the variation roduction produced. Morgan worked with the tiny igure 5.10), yells were suitable for such s They could be! grown on ee: in the laboratory. They*Complete their life weeks, and a’Single mating could produce a large thee ‘and his collea; that sexual rep! ( udies sim cycle in Figure 5.10 Drosophila (FP! melanogaster (a) Male ( 27 a) (b) 8) (b) Female FATHER OF EXPERIMENTAL GENETICS umber of progeny flies. Also, there was a clear differentiation of the | sexes / the male and female flies are easily distinguishable. Also, it garHer OF MODERY has many types of hereditary variations that can be seen with low s | power microscopes. 5.3.3 Linkage and Recombination 'dihybrid crosses in Drosophila to study genes ‘The crosses were similar to the dihybrid crosses carried "out by Mendel in peas. For example Morgan hybridised yellow-bodied, white-eyed females to brown-bodied, red-cyed males and intercrossed their F, progeny. ratio (expected when the two genes are independent). Morgan and his group knew that the genes were located on the X chromosome (Section 5.4) and saw quickly that when the two genes ina dihybrid cross were situated on the same chromosome. type. Morgan attributed this due to the physical association or linkage of the two genes and coined the term Hnkage to describe this physical nd the term recombination to describe the generation of non-parental gene combinations (Figure 5.11). _ Morgan and his group also found that even when genes were grouped Je uesame chromosome, some genes were very tightly linked {showed Tent tecombination) (Figure 5.11, Cross A) while others were loosely (showed ler_ recombination) (Figure 5.11, Cross B). For andy h* found that the genes white and yellow were very tightly linked recombination while white and miniature. T cent recombination, His student [Alfred AntJused the frequency of recombination irs. on the same ' their position on the chromos: Today genetic maps L distance TF Unkege — L necombinalic bis genes GENETICS (iBedaaontare extensively used as a starting point in the sequencing _ genomes as was done in the case of the Human Genome Seq, | Bam Gy?| Yelian) (y Project, described later. Parental type(98.7%) type(62.8%) — 5 a ee: J wa e ne ite ¢ 2 igs ya Edie | aa. . ow o.- “an w 7F, generation Figure 5.11 Linkage: Results of two dihybrid crosses conducted by Morgan. Cross A shows crossing between gene y and-w; Cross B shows crossing between genes w and m. Here dominant wild type alleles are represented with (+) sign in superscript Note: The strength of linkage between y and w is higher than w and m. Uf Recombinaton > |cM Ceo} Morgen) aa elW a are extensively used as a starting point in the sequencing of , genomes as W done in the case of the Human. Body — | Bran (yt)| Yelow (y project, described later Colour | any Gt) | whl Cw) 9 “Cross A = “Cross BB is slags | Herel Ihe meey x ee 6 yw" OMe Sequen. n cm) | ae < : i a a : XW wee oe. a oe | een ein +0 + Q w w F, generation ¥ aemeoe eee ne Gao SS We ome cence = | t “wd wpe Yetow tte ‘wid type White miniature ne Parental Parental type(98.7%) type(62.8%) y 3 ean F, generation Figure 5.11 Linkage: Results of two dihybrid crosses conducted by Morgan. Cross A shows between gene y and w; Cross B shows crossing between genes w and 1 Here dominant wild type alleles are represented with (+) sign in superscript Note: The strength of linkage between y and w is higher than w and m I'f Recombinatlen = |e Ceondi Morgan)> VARIATION MATON | QuanLecve’ (nhaidance sycinss OF INHERITANCE AN pRINCIPLES omy gone ——> one. characlonr 4 : ly described those traits that have distinct alternate vi ndel's studies mai distinct in thet oss a gradient. For example in humans W J alternatives but a whole ou will find ¢ ir occurrence and are spi ‘e don't just have tall or short people as two distinct range of possible heights. Such traits are generally nd are thus called as polygenic traits. x the involvement of multiple genes polygenic inheritance also takes | fu another {lassic example for this. Iva polygenic trait the phenotype reflects the Jrribution of each allele, Le., the effect of each allele is additive. To Goversiand this better let us assume that three genes A. B. C control skin colour inh with the dominant forms A, B and C responsible for Sark skin colour and the recessive forms a, b and c for light skin colour. ‘The genotype with all the dominant alleles (AABBCC) will have th and that with all the recessive alleles (aabbcc) will have the expected the genotype with three dominant alleles and thi ive alleles will have an In this manner the number of each type of alleles in the genotype would determine the darkness or lightness of the skin in an individual. mR eased We have so far seen the effect of a gene on a single phenotype or trait. There are however instances where a) Such a gene is called a pleiotropic gene. The underlying mechanism of pleiotropy in most cases is the effect of a gene on iffer: An example of this is the which occurs in ad a Besides through phenotypic expression characterised by{mental Tetardation and a T¢ nin hair and skin. ion. 5.6 Sex DeTeRMinaTION ‘The mechanism of sex determination has always been a puzzle before the ae The initial clue about the genetic/chromosomal mechanism out termination can be traced back to some of the experiments carried aneetis . In fact, the cytological observations made in a number of ae: the development of the concept of genetic/chromosomal determination, muld trace a specific nuclear Structure all through spermatogenesis in a few insects, and it was also Sbserved by him that 50 per cent of the sperm received this structure iesis, whereas the other 50 per cent sperm did not receive plain its sj the conclusion that Ice. er investigations by other scientists led to the "X body’ of Henking was in fact a chromosome t aabbee Continuous phenol ypic vowalon Ball shoped ce Fable BOLE phondlype (AD_ENVIRON MENTAL crocodile Qg +L wnyp- o $ LempPE SEX DETERMINATION @ xo @* Kélero gamneles Homesomales é and that is why it was given the , chromosome. It was also obsery am S ln Secacemiaon rte 0% \| eggs bear an additional X-ch XX besides the other chromosoy," (autosomes). On the other hand, some of, sperms bear the X-chromosome wher, Homogamdas Some do not. Eggs fertilised by sperm j; (a) an X-chromosome become females ans those fertilised by sperms that do not hi, oa Q an X-chromosome become males. Do y, . think the number of chromosomes in th: No male and female are equal? Due to the involvement of the X-chromosome in the { Fr determination of sex, it was designated 1 XY (b) xx be the sex chromosome, and the rest of the Hoo. gorsles Horogametos chromosomes were named as autosomes GiaSSHODBEH!s an example of XO type of sex determination in which { males have only one X-chromosome besides the autosomes, whereas females have a pai of X-chromosomes. These observations led to the investigation of a number of species to understand the mechanism of sex cates canny mal f.aetermination. Figure 5.12 Determination chromosor differences: (a,b) Both in humans and seen where both male and female have same number of chromosomes. Among the males an X-chromosome is Present but its counter part is distinctly smaller and called the Y-chromosome Females, however, have a pair of X chromosomes, Both males and females bear same number of autosomes. Hence, the males have autosomes plus XY while female have autosomes plus XX. In human beings and it Drosophila the males have one X and one Y chromosome, whereas females have a pair of X-chromosomes besides autosomes (Figure 5.12 a, b) In the above description you have studied about two type determining mechanisms, i.e. Such types of sex determination mechanism is designate? to be the example of In some other organisms. ¢4 birds, a different mechanism of sex determination is observed (Figu" 5.12 ©). In this case the total number of chromosome is same in bot! males and females. But twoW INHERITANCE AND VARIATION 77) = 2 yy type of SEX berenrmnernonl. yciPues OF |! ~ - eg: bads el i.¢., female heterogamety. |1) Mo have a distinction with the mechanism of sex determination “sat ied earlier the two different sex chromosomes of a female bird has descr pe gnated to be the Z and W chromosomes. In these organisms the been deserve Zand one W chromosome, whereas males have a pair of ales have 0 etpromosomes besides the autosomes. 5.6.1 Sex Determination in Humans ithas already been mentioned that the sex determining mechanism in mans is XY type. Out of 23 pairs of chromosomes present, same in both males and females; these are the o g qutosomes. A pair of X-chromosomes are present in the female, whereas xy KX the presence of an X and Y chromosome are determinant of the male Characteristic. During spermatogenesis among males, two types of hs gametes are produced. 50 per cent of the total sperm produced carry the X-chromosome and the rest 50 per cent has Y-chromosome besides the autosomes. Females, however, produce only one type of ovum with an X-chromosome. There is an equal probability of fertilisation of the a ovum with the sperm carrying either X or Y chromosome. In case the = x ovum fertilises with a sperm carrying X-chromosome the zygote develops. Bul into a female X) and the fertilisation of ovum with Y-chromosome carrying sperm results into a male offspring. Thus, it is evident that it 4s the genetic makeup of the sperm that determines the sex of the child. It is also evident that in each pregnancy there is always 50 per cent probability of either a male or a female child. It is unfortunate that in our society women are blamed for giving birth to female children and have been ostracised and ill-treated because of this false notion. The sex determination in honey bee is based on the number of sets of chromosomes an individual receives. An offspring formed from the union of a sperm and an egg develops as a female {queen or worker), and an_unfertilised log (drone) by means lenogenesis, is means that the males have half the number of Fencr than that of a female. The oa are diploid having 32 losomes and males are haploid, i.e., having 16 This is called as' characteristic features such as the of (Figure 5.13), & Ferillicato S é jfortitieed J Oo) Nass 718Ww CHROMOSOME AwC DELETION é mes one end to the other in each chromatid, in a highly supercoiled ia. Tce Therefore oss deletions) on gain (ngertion/duplcalioR) ofa segmeny, puplt cATION DNA, result in alteration in chromosomes. Since genes are known cE F 6) located on chromosomes, alteration in chromosomes resulis 5 © © 4) > Sudden + random changer on DNA 5.7 Mutation Sequence Mutation is a phenomenon which results i Lion. Of DNA seqiie, and consequently results in changes in the genotype and the phen. of an organism. In addition to recombination, mu phenomenon that leads to variation in DNA. As you will learn in Chapter 6, one DNA helix runs continuously fy, FG Male aberrations are commonly observed in cancer cel\s In addition to the above female This is known as, classical example of stich a sex unspecified mutation is sickle cell anemia. eat BO ® wicca inaiiauais (see Chapter 6). The mechanism of mutation is beyond the scope E—®© ating of this discussion, at this level. However,jithiere are huce © mating between relatives ‘These are referred to as| Ww {consanguineous mating) —_radiations can cause mutations in organisms - it is mutagen. parents above and children below (in order of birth-Ieft to right) 5-8 Genetic Disorpers 5.8.1 Pedigree Analysis The idea that disorders are inherited has been paras ee pe child prevailing in the human society since long. This was based on the heritability of certain characteristic features in families. After the rediscovery of Mendel’ work the practice of analysing inheritance pattern ol © five unaffected offspring traits in human beings began. Since it is evident that control crosses that can be performed in pea plant or Figure 5.13 Symbols used in the human Some other organisms, are not possible in case o! pedigree analysis human beings, study of the family history abou! inheritance of a particular trait provides 4? of traits in a several of generations of a fam! In the pedigree analysis the inheritanc® of a particular trait is represented in the family tree aver generations In human genetics, pedigree study provides a strong tool, whic! utilised to trace the inheritance of a specific trait, abnormality or dista** Some of the important standard symbols used in the pedigree analys* have been shown in Figure 5.13. As you have studied in this chapter, each and every feature in 2" organism is controlled by one or the other gene located on the DNA pres" alternatipawcrs OF MNERTANCE AND VARIATION &, chromosome. DNA is the carrier of genetic Information. It is hence rom one generation to the other without any change or ration, However, changes or alteration do take place occasionally. Such oeaiteration or change in the genetic material is referred to as mutation. number of disorders in human beings have been found to be associated Attn the inheritance of changed or altered genes or chromosomes. Pisce , Polio Mendslion taut) w majorly Shen of 5.8.2 Mendelian Disorders 4, p, 1; pre Pralyale is used ) Broadly, genetic disorders may be grouped into two catégories - Mendelian disorders and Chromosomal disorders. Mendelian disorders are mainly determined by alteration or mutation in the single gene. These disorders are transmitted to the offspring on the same lines as we have studied in the principle of inheritance. The pattern of inheritance of such Mendelian ee disorders can be traced in a family by the pedigree analysis. Most common 5 BTEAS INE, and prevalent Mendelian auto aa tc.1tis Caused by mutalion m important to mention here that such Mendelian disorders may be ¢E7R gene dominant or recessive. By pedigree analysis ong can easily understand whether the trait in question is dominant or recessive. Similarly, the trait Tis leads Jo Des may also be linked to the sex chromosome as in case of haemophilia. Itis mucus buildup tag inthe transmitted fr evident that this X-linked recessive trait shows transmission from carrier Giginp bff a female to male progeny. A representative pedigree is shown in Figure 5.14 Satis fordominant anid recesatve traits, Discuss with yourteacher and design beolhng. Utty vatoly 4 pedigrees for characters linked to both autosomes and sex chromosome. acing Je tbsos/s a) Eo© om bd fa) ) Figure 5.14 Representative pedigree analysis of (a) ‘(b) Autosomal recessive trait (for example: Sickle-cell anaemia) RED + GREEN COLOUR BLINDNESS / DICHROMASIA : It is a Bese” recessive diSOrMEr ue to defect in either red or green cone of eye resulting in failure to discriminate between Fed and green colour, This defect is due to mutation in certain genes eee in the X chromosome. It occurs in about 8 per cent of males and — Fernales about 0.4 per cent of females. This is because the genes that lead to ‘4 ec - rir gee oe colour blindness are on the X chromosome. Males have only Mae Afecled chromosome and females have two, The son of'a woman who carries XC” MERE Nova! Hales = KY ~ Norwad‘o AUTOSOMAL DOMINANT] - Seen sh overy generation - affeced ally tan hove _ ated ltd andviclual «xl or pected pused. [RuTOSoMAL RECESSIVE) = not Seen m al graces Cskppin 9 of neration wid apedeh pact > have afedsd children. X— LINKED DOMINANT | X- LINKED RECESSIVE , = Clss COs aihwitane Mom —? Son Fatnan —> DauighIer. | ee og Mypertvchsls CHainy ears) - Seen only +0 males - Fath to Son} } YX" Nowmal xix casnler xx? opechot pe ny nomwol QUAUTATIVE = <= Noo HbA 464 Hb* He * | Affedlad Hb® Ho Normal Hy gene GAC Sie cet 9) gone the gene has a 50 per cent chance of being colour blind. The not herself colour blind because the gene is recessive, That mear effect is suppressed by her matching dominant normal gene will not normally be colour blind, unless her mother is ac father is colour blind. [Haemophilia]: This sex linked recessive disease, which sh. transmission from unaffected carrier female to some of the male has been widely studied. In this disease, Adaughte, rier and The heterozygous female (carrier) for haemophilia may transmit the diseas to sons. The possibility of a female becoming a haemophilic is extreme! rare because mother of such a female has to be at least carrier and the father should be haemophilic (unviable in the later stage of life). The pedigree of Queen Victoria shows a number of haemophilic descendents as she was a carrier of the disease. Sickle-cell anaemia} This is an that can be transmitted from parents to the offspring when both the partners are carrier for the gene (or heferozygous). The disease is controlled by a single pair of allele, (as) and) Out of the three possible genotypes only homozygous individuals for Hb* (Hb*Hb’) show the diseased phenotype Heterozygous (Hb*Hb*) individuals appear apparently unaffected but th are carrier of the disease as there is 50 per cent probability of transmission of the mutant gene to the progeny, thus exhibiting sickle-cell trait (Figure 5.15). The defect is caused by the Substitution of Glutamic aie Vai) (is) ea)- a6) a) Gan) HbA peptide HS peptide Figure 5.18 Micrograph of the red blood cells and the amino acid composition of the relevant Portion of f-chain of haemoglobin; (a) From a normal individual; (b) From an individual with sickle-cell anaemiaW pamcint8 OF INHERITANCE AND VARIATION & gguu) bv Valine (Va) at the sixth position of the beta globin chain of the molecule? The substitution of amino acid in the globin rotein results due to the'single base substitution at the sixth codon of -—» pon 4 mutalion E from. toGl ‘The mutant haemoglobin molecule on polymerisation under low oxen tension causing the change ine E ape of the RBC from bicone: gructurelFigure 5 15). (Fhenylketonual: This inborn error of metabolism is also inherited as ity The affected individual lacks an enzyme — phenyl ppt) the that converts the amino acid phenylalanine into tyrosine. As a result of ny this phenylalanine is accumulated and converted into phenylpyruvic acid tein and other derivatives. Accumulation of these in brain results in mental A pLeroTROPY retardation. These are also Se coe because of its poor absorption by KIGNEY., 9) ppyriparyigt Wine block This is also an autosome-linked recessive blood disease, ‘mitted from parents to the offspring when both the partners are trans! unaffected carrier for the gene (or heterozygous). The defect could be due to either mutation or deletion which ultimately results in reduced rate of synthesis of one of the globin chains (« and f chains) that make up haemoglobin. This causes the formation of abnormal haemoglobin molecules resulting into anaemia which is characteristic of the disease. Thalassemia can be classified according to which chain of the haemoglobin molecule is affected. In « Thalassemia, production of a. globin chain is affected while in f Thalassemia, production of f globin chain is affected. {each parent and it is observed due to mutation or deletion of one or more of the four genes. The more genes affected, the less alpha globin molecules produced. While nd occurs due to mutation of one or both the genes. from sickle-cell that a quanta ng | ce i ee las | 5.8. Wr No need for pedigree ie 3 Chromosomal Disorders 7 ae 7 estoy, ‘The chromosomal disorders on the other hand are caused due to absence or excess or abnormal arrangement of one or more chromosomes. — ProphassT/ I For example, Down's syndrome results in the gain of extra copy of chromosome 21. Similarly, Turner's syndrome results due to loss of an X chromosome in human females. . Coaused due b cher : og he {otal number of chromosomes in a normal human cell is 46 COLCHICINE) _ 23 pairs). Out of these 22 pairs are autosomes and one pair of f mes are sex chromosome. Sometimes, though rarely, either an 44 I copy of a chromosome may be included in an individual or an — CEES ON E QB> GD Ged GD ™ 2 cx allosomas NULYScMy monosomy TRISCHY —TETRASOMY 2 ) ex demosome’Figure 5.16 A representative figure showing an individual inflicted with Down's ‘syndrome and the corresponding chromosomes of the individual 4 Tall stature Short stature and with feminised underdeveloped character feminine character Figure 5.17 Diagrammatic represe- nation of genetic disorders due to sex a composition in humans : ‘Syndrome; (b) Turner's to the eee Or are sterile b lack of other secondary sex af laracters (Figure 5.17 b). Tor functona) individual may lack one of any one pair of chromosomes. These situations are known as trisomy ‘or monosomy of a chromosome, respectively. Such a situation leads to very serious consequences in the individual. Down's syndrome, Turner's syndrome. Klinefelter's syndrome are common examples of chromosomal disorders, The cause gprs! genetic disorder 1s the presence of an additional copy of the chromosome number 21 (trisomy 6f21)! This disorder was first described by Langdon Down (1866). The affected individual is'short statured with small roun head. “furrowed tongue and partially ‘open mouth (Figure 5.16)7Paim is broad with characteristic palm crease," Physical, psychomotor ata mental developme This genetic disorder is also tused due to the presenc © of an additional copy of X- resulting into a karyotype of Such an individual has'overall masculine development, however, the’ feminine development (development of bres stia) is also expressed . 1e.3Gynaecom luals are sterile (igure 5.17 a). Such individ ‘Warmers syndrome. Such a disorder is caused due [one of the X chromosomes... ies are rudiment JSuch females ides other features including