Reasons for Mendel’s Success 3.2 GENETIC TERMINOLOG' AND MECHANISM oF INHERITANCE: «+ Heredity Inheritance is the transmission of genetic information from generation to generation, + Gregor Mendel first explained the mechanism of inheritance by using the technique of hybridization, + He studied the inheritance of the following seven traits in garden pea (Pisum sativum). [ie Gina oe 1_[Stem height | Tall/dvart [727 [Frower postion [Asal ierminal [7 3._| Flower colour | Purle/white 4._ | Pod shape | tnftated constricted 3._| Pod colour [ Green yellow 6. [Seed colour | Yelow/ Gren 7__|Seed shape | Round/wrinkled + He coined term ‘factors’ that are responsible for expression of a particular trait/ character. + The Mendelian factors are now termed as ‘genes! + Mendel planned his experiments carefully with large sample size. + He carefully recorded all the results and analyzed the data statistically. + He selected Pisum sativum as his experimental plant, because it has several contrasting characters. + The factors responsible for these characters are located on separate chromosomes. + Character: It is a specific feature of an organism e.g, height of stem, + Trait: An inherited character and its detectable variant e.g. Tall or dwarf + Factor: Its a unit of heredity, which is responsible for the inheritance and expression of a character. + Gene: It is a specific segment of DNA which is responsible for the inheritance and expression of a character. + Alleles or Allelomorphs :are two ormorealternative forms of a given gene (factor) that occupy identical loci (positions) on homologous chromosomes. + Dominant: It is an allele of a pair that masks the expression of other allele in heterozygous condition. + Recessive: This allele is not expressed in the Presence of an alternative allele in heterozygous condition * Phenotype: The external appearance of an individual for any trait is called phenotype for that trait. 7) 3.3 ee SOO omen cara 3.1 CHROMOSOMES + Genotype: Genetic constitution of an organism with respect to a particular trait. Homozygous (pure): It is an individual with identical alleles for a particular trait. + Heterozygous (hybrid): It is an individual possessing contrasting allele for a particular trait. + Pure line: An individual which is homozygous for one or more traits, is said to be pure line or true breeding. i.e. which breeds true for a character. ‘+ Monohybrid: It is heterozygous for one trait. + F, generation: It is the first filial generation produced from a cross between pure parents with contrasting characters. + F, generation: Its the second generation (progeny) produced by selfing (inbreeding) of F, generation offsprings. + Punnett square / Checkerboard: tis adiagrammatic representation of a cross to predict the progeny of + Homologous Chromosomes: These are morphologically, genetically and structurally identical chromosomes present in a diploid cell. + Back cross: It is a cross of F, progeny with any of, the parents. + Test cross: It is a cross of F, offspring with homozygous recessive parent + Phenotypic ratio: It is the ratio of the offsprings with respect to their physical appearance. + Genotypic ratio: It is the ratio of the offsprings ‘with respect to their genetic makeup. + Monohybrid cross : It is a cross between parents that differ with respect to only one pair of contrasting characters. + Dihybrid cross : It is a cross between parents that differ with respect to two pairs of contrasting characters. Mendel also performed the dihybrid cross between pea plants that differed in two pairs of contrasting characters, ‘MENDEL’S LAWS OF INHERITANCE : (1) Law of Dominance : It states that, “When two homozygous individuals with one or more sets ‘of contrasting characters are crossed, the alleles (characters) that appear in F, are dominant and those which do not appear in'F, are recessive”. (2) Law of segregation (Law of purity of gametes It states that, “When hybrid (F,) forms gametes, the alleles segregate from each other and enter in different gametes”. Gametes are formed by meiosis and hence the 2alleles for a trait always segregate during gamete formation and hence the gametes are always pure as they carry either dominant or recessive allele bbut never both, @ scanned with OKEN Scanner28 (3) Law of Independent Assortment: It states that, “When hybrid possessing two (or more) pairs of contrasting factors (alleles) forms gametes, the {factors in each pair segregate independently of the ‘other pair’ Thus, the alleles of two characters are assorted independently giving rise to recombinations in the F, generation. 3.4 BACK CROSS AND TEST CROSS : (a)Back cross: A cross between the F, individual with one of its two parents. (oyTest cross: The cross of F, hybrid with the homozygous recessive parent is known as a test cross. + It is used to test whether an individual is homozygous (pure) or heterozygous(hybrid). + Test cross is also used to introduce useful recessive traits in the hybrids of self polinated plants during rapid crop improvement programs. & 2. BRIBE 2,0.) (cenctype unkown) Anfomenervike GE Half the fowers ae viet and Unknown mess hal ofthe fowers ze white omaaygous dominant nln Rowers heterosyaous ___ Fig. 3.1 Grapheal representation of test cross 3/8 DEVIATIONS FROM MENDEL'S FINDING + Neo-Mendelism: In the post-Mendelian era, certain deviations were observed in the patterns of inheritance. These deviations are called the Neo- Mendelism. + Gene interactions: Modification of phenotypic expression of one gene by the other gene is called gene interaction. Gene interactions may be Intragenic (interallelic) or Intergenic (non-alllic). () Intragenie (interalelic|interactions occur between the two or more alleles of same gene e.g. Incomplete dominance and co-dominance. (i) Intergente (non-allelic| interactions occur between, the alleles of different genes present on the same or different chromosomes. €.g,Pleiotropy, polygenes,epistasis, supplermetary and complementry genes, etc. Some of these are discussed below {a) Incomplete dominance: + In the incomplete dominance, both the alleles (genes) of an allelomorphic pair express themselves partially, + Oneallele cannot supress the expression ofthe other allele completely. + Asa result, the F, hybrid shows an intermediate expression. «A well-known example is flower colour of Mirabilis jalapa. Jeross between a red-flowered (RR) and a white- owered (rt) plants, would yield F, offsprings with UTTAM's_XI1 Biology Papers Solution pink (Rr) flowers. When selfing of F, is done and F, generation is formed. It shows following ratio : Genotypic ratio - IRR: 2Rr: Ler Phenotypic ratio - IRed : 2 Pink :1 White. + Thus genotypic and phenotypic ratios are identical. (b) Co-dominanes + Inco-dominanee, both the alleles of a gene express tqualy in F, hybrid. «re nple of co-dominance is cost colour in cate «THUS recat (RR) are crossed with white cttlen Wah brid) exible roan patter eee mintore of red and white colour oa body thus provingancqualexpressionof both the traits. ‘Across between two roans would yield F, generation with red (RR), roans (RW) and white (WW) in the ratio 1:2:1. + Thus in Co-dominance, the genotypic and phenojypic ratios are identical. Phenotype : x White oe Genotype : Parent: me x Generation: Phenotypic Rw? Rye ae % wil Genotypic ; ‘ratio! RR RW: Ww read Fig. 9.2 Representation of co-dominance in cattle (c) Multiple alletes: More than two alternative forms (alleles) of gene in a population occupying the same locus Sn homologous chromosomes, are ‘known as multiple aistes. They arise by mutations of the Wil typeof gene + Wild" ype fe dominant over all other mutant alees + There may be several mutants producing a series of multiple alleles. 7 "e + The mutant in series may show how dominant- recessive relations or may. Show eo. dominance ‘or incomplete dominance am themselves. me + In. Drosophila, the wings pattern ranges. from normal wings (wild type, Wer) to vestsal Wings, through nicked’ wingstg™, notched wingsivg™ and strap wings) + The ABO blood grouping in Maman beings also represent multiple allelism, @ scanned with OKEN ScannerInheritance and Variation 29 Phenotype Normal Wings ve eked win JBC | oe Notched wings ae [ve Strap wings a we ‘Table : 3.3 Few phenotypes and genotypes in Drosophila (a) Pleiotropy: + Pleiotropy or pleiotropism involves control of ‘two (or more) different traits by a single gene. + Inheritance of sickle-cell anaemia is an example of pleiotropy. + The disease, sickle-cell anaemia, is due to a gene Hb’, which is recessive to the normal or healthy gene Hb*. + The carriers {heterozygotes Hb‘/Hb') suffer from mild anaemia only under abnormally low O, concentration. + The homozygotes with recessive gene Hb however, die of total anaemia. As the gene Hb® produces defective haemoglobin, causes RBCs to become sickle shaped which may block blood flow and ‘oxygen transport to various internal body organs. + Thus, a single gene affects several phenotypic characters. fonoploidy Polyploidy pee are ‘A marriage between two carriers will produce normal, carriers and sickle-cell anaemic children in 112:1 ratio, But the Sickle cell anaemics die and thus the carriers : normals ratio is 2:1 PARENTS Phenotype Sicke-cell cartier X Sickle-el carrer Genotype : Ht Hb" HO Ht OAMETES: 3.6 CHROMOSOMAL THEORY OF INHERITANCE : + It was put forth by Sutton and Boveri * It identifies chromosomes as the carriers of genetic material. + It states that the chromosomes are present in pairs in cells. + During gamete formation _ homologous chromosomes segregate and assort independently during meiosis. As a result, cach gamete has one chromosome from a pair. + With a single set of chromosomes, the nucleus of fa gamete (sperm and ega) carries all hereditary traits. + The haploid gametes form a link between parents and offsprings. + The fusion of haploid male and female gametes, restores the diploid number of chromosomes of the species. 3.7 CHROMOSOMES: (Chromo = color, soma = body) Wonosomy (Gael). Nallisomy (2n-2), Chart 3.5: Varlation in chromosome number (Plotdy) + These are filamentous bodies present in the eukaryotic nucleus, visible during cell di + They are carriers of heredity + Eukaryotic chromosomes are chemically made of DNA, histone and non-histone proteins. + They can selfreplicate and play important role in heredity, mutation, variation, and evolutionary development of eukaryotic species. * The number of chromosomes is specific and constant for a species and hence they are {important in the study of phylogeny and taxonomy of the species. + The degree of repetition of the primary basic number of chromosomes (ie. 5c) in a cell is called . the ploidy. * When the chromosome number in a 2el # ‘exact multiple of the primary basic number js the then @ scanned with OKEN Scannerit is called euploidy. + Euploids may be haploid(n). diploid (2n), triploid {Gn), tetraploid (4n} and so on. + When the chromosome number is not the exact multiple of the haploid set, it is described ‘as Aneuploidy. It is either addition or deletion of fone or more chromosome (s} to the total number of chromosomes in a cell Structure of chromosome: +A highly condensed metaphasic chromosome shows two chromatids joined at centromere or primary constriction. + Primary constriction consists of a disk shaped plate called kinetochore which is the site of attachment of spindle fibres during cell division. Telomere cchromoneees Cchromegensta Second ‘Constrieion centromere Primary Sconsireion (Centromere| ‘Nucleolus IB cpromonemata secondary Costin oF ocesar organize Saree ws o Fig.3.9 (A): Parts of chromosomes (8) Showing Secondary constrictions and details +A few chromosomes may possess additional constrictions called secondary constrictions. + Secondary constriction I is the site of nucleolus organization during interphase. + Secondary constriction Il is for the attachment of satellite body (SAT body). Each chromatid has @ Jong, unbranched, slender, highly coiled DNA thread, called Chromonema. + Chromatid consists a double stranded DNA molecule. + Depending upon the position of centromere the chromosomes may be Acrocentric, Telocentric . ‘Submetacentric and Metacentric. + The ends of chromosome (ie. chromatids) are known as telomeres. Sex Chromosomes: + These are responsible for the determination of sex (Allosomes). + Human sex chromosomes. +X chromosome is straight, metacentric and longer than Y chromosome. + ¥ chromosome is acrocentric. + X chromosome has large amount of euchromatin nd small amount of heterochromatin (highly condensed region) and hence is genetically active. | Y chromosome has small amount of euchromatin dnd large amount of heterochromatin, hence it is chromosomes are X and Y LUITAMs XII Biology Papers Solution genetically less active, — Both X and Y chromosome shi is and non-homologous regions. a * Crossing over occurs only between homologous regions of X and Y chromosomes, + Non-homologous region of X chromosome hhas more genes(X-linked genes) than that of non homologous region of Y chromosome (¥ linked genes). [Non - Homologous regions Centromere Homologous Tegion Fig. 3.10 Structure of X and ¥ chromosomes (in humans) 3.8 LINKAGE AND CROSSING OVER : + Linkage : Genes located on the same chromosome have a tendency to be inherited together and are called linked genes. + Linkage is of two types - complete and incomplete Linkage: fi) Complete linkage : Completely linked genes ‘are closely located on the chromosome and do not participate in crossing over and inherit together. (ti) Incomplete linkage : Incompletely linked genes ‘are distantly located on the same chromosome and may separate during crossing over. + Linkage Groups : = All the genes on a particular chromosome, constitute one linkage group. = The number of linkage groups is the haploid number of chromosomes. e.g. Drosophila melanogaster has 4 Uokage groupe as it has 4 pairs of chromosomes. ~ Garden pea has 7 linkage groups and 7 pairs of + Sex-linkage ~ It is the inheritance of X - linked and Y-linked genes from parents to offspring It may be complete sex linkage as exhibited by genes located on non-homologous regions of X and Y Chromosomes, - Examples: Xlinked Haemophilia, Red-green colour” blindness, Myopia rear "sightedres) "inked Hypertichony, eho ct ~ Itmay be tneomplete sex linkage a, exhibi a8 exhibited by ge london homolgoe segs af ad ~ Baamples of RY linked trait 9 ae total colour blindess, Nephritis, Retinitis pigmentosa, a @ scanned with OKEN Scanner 4Inheritance and Variation + Crossing Over : = It is the exchange of genes between non-sister chromatids of homologous chromosomes that may lead to recombinations. = It occurs during pachytene of prophase 1 of meiosis. = Crossing over occurs in four steps as synapsis, tetrad formation, crossing over and terminalization ~ Itisa universal phenomenon and is necessary for variations. % Morgan's Experiments showing linkage and crossing over : + Experimental animal: Drosophila melanogaster (fruit fy) + Itcan be easily cultured in laboratory, has a short life span and high rate of reproduction. Parental >, generation & 3a Morgan crossed yellow-bodied, white eyed female to the wild type with brown-bodied, red eyed males and intercrossed their F, progeny. It was observed that the two genes did not show independent segregation as obvious from the F, ratio. The physical association or linkage of the two genes decides the proportion of parental and non- Parental combination in F,, generation, - The strongly linked genes show very few recombinations (1.3 %). ~ When genes are far away from each other on the chromosome, they show higher recombinations (37.2%) ‘ype O72) Fig. 9.6 Linkageland crossing over 29 sonouas mraes: d Phenyl ketonuria (PKU), Cystic fibrosis and Sickle cell anaemia, (a)Widow's peak : + Widow's peak refers to a condition of having a Prominent “V" shaped hairline on forehead both in males and females. * Itis determined by an autosomal dominant gene. @ scanned with OKEN Scanner32 {b) Phenylketonuria (PKU): 3. + Itis seen in homozygous dominant (WW) and also heterozygous (Ww) individuals while homozygous recessive (ww) genotype have a straight hair line. Widow's Peak No Whlow's Penk Fig.3.7 Widow's Peak + Ibis an inborn metabolic disorder in which the amino acid phenylalanine is excreted in urine, thence this disease is called Phenylketonuria + Itis determined by an autosomal recessive gene, + The homozygous individuals fail to produce the enzyme phenylalanine hydroxylase and hence can not convert the amino acid phenylalanine into APT reeuk, phenylalanine and ie derivatives are accumulated in blood and cerebrospinal fluid (CSF), thereby affecting the development of brain ‘and causing mental retardation, + Autosomal recessive traits appear in both sexes with equal frequency, These traits tend to skip generations. 10 SEX LINKED INHERITANCE : + Genes located on non-homologous region of sex chromosomes, are called sexlinked genes, the traits that are determined by them are called sexlinked traits and_ their inheritance from parents to their offsprings, is called sex linked inheritance. + There are two types of sex-linked genes as X-linked genes and Y-linked genes. (a) X-linked (sex linked) gene: + The X linked genes are located on non-homologous region of X chromosome. + Examples include haemophilia, colour blindness, night blindness, myopia, muscular dystrophy, ete. + They do not have corresponding alleles on Y chromosome. In female these genes are in pairs as there are two X chromosomes. So a recessive allele may remain suppressed if the other allele is dominant. Such a female will be a carrier of the recessive gene. + A male with only one X chromosome however will always express the X-linked recessive allele as the corresponding dominant allele is absent. + X-linked recessive traits therefore appear more frequently in males than in the females, (b) ¥-linked (Holandric) genes : + The Y linked genes are located on the non- homologous region of Y chromosome. + Example - Hypertrichosis(Hairy Pinnae). + They are inherited from male to male. Colour blindness : UTTAM's XI Biology I This an Xetinked recessive disorder in which a fete ula to distinguish between red nnd green Ealours «The receasive Xelinked gene (X") which prevents formation of colour senatve cells the cones), therretinn ot eye «The homonygous recessive females (X* x") and in receaaive male (XY) are therefore Mh while the heteronygous femaleCX) na the Hemiygous dominant male@X°Y) wl te norma vision. + Theinhertace of colourblindness can be studied inthe flowing two types of marringes 1h) Mrsage between colorblind mate with normal pol pretuceall he , progeny’ female wh normal vision. But the daughter will be carrier Colour blind Normal Parents: Male =X famale Genotype: xv ex IES a Raj ROX OK yxy Ww WY Carrier daughters (50%) Fig. 9.8 Sex linked inheritance (colourblindness } (b) Marriage between carrier female (daughter) and normal male will produce all female offsprings with normal vision but half of them will be carriers for the disease. Half of male offsprings will be normal while remaining half will be colour blind, Carer Normal Parents ; Daughter ‘wale Genotype xx" xy Gametes : xx RY? @ oe, XY Normal Normal Carrier Colour blind Female Mole Female Male 25% 25% 5% 25% Fig.3.9 Sex linked inheritance (Colour blindness) + Thus, the X linked recessive gene for colour blindness is inherited from colourblind father to his grandson through his daughter. This type of inheritance is called as cris-cross inheritance. i @ scanned with OKEN Scanner‘Haemophilia (Bleeder's Inheritance and Variation disease) : + Itis an X-linked recessive disorder in which blood fails to clot or congulates very slowly. As a result, even minor injuries cause continuous bleeding, and hence haemophilia is also called as bleeder's disease. + The person having recessive gene for haemophilia is deficient in clotting factors (VIII or 1X) in blood, ‘The gene is located on non homologous region of X chromosome. + The gene for normal clotting is dominant over the recessive genes for haemophili + Like colour blindness, haemophilia also shows criss-cross inheritance. (a) A marriage between the Haemophilic male and normal female will produce all the F, progeny with normal blood clotting. But the daughter will be carrier for the disease. Parent Normal ta: X Female Genotype x Gametes as I 3¥0 we : ye 0 xy ey UY Carrier daughters Normal Sons (50%) (50%) Fig.3.10 Sex linked inheritance (Haemophilia) (b) Marriage between carrier female (daughter) and normal male will produce all female offsprings with normal blood clotting but half of them will be carriers for the disease. Half of male offsprings will be normal while remaining half will be haemophiliacs P generation Male Female Fig. 3.11 Sex Unked inheritance (Haemophitia) 3.11 SEX DETERMINATION : (a) Sex Determination in human beings (XX-XY type) : + Ofthe 23 pairs of chromosomes in human, 22 pairs are autosomes and one pair is sex chromosome. 33 * Human female has homomorphic sex chromosomes (44 Autosomes + XX) while male has heteromorphic sex chromosomes (44 Autosomes +xY) * Human male is heterogametic as during spermatogenesis in testis, two types of haploid sperms are produced, 50% sperms with 22 autosomes + X, while 50% sperms with 22 autosomes + Y, * Human female is homogametic, as during oogenesis in ovaries only one type of egg is Produced. All eggs will be with 22 autosomes +X. + IEX sperm fertilizes egg (ovum), then the resulting diploid zygote grows into a female child. If ¥ sperm fertilizes the egg, the resulting diploid zygote grows into a male child. + Thus, the sex of a cl sperm fertilizing the egg. depends on the type of P generation Male ametes F, generation ® sm @ 7x XY @ Female Hate x x ® Female | sive Conclusion 1:1 sex ratios produced Fig.3.12 Sex determination in human beings (b) Sex Determination in birds (ZW-ZZ type) : Parente: Male X Female avez ave comers iN ont @® @ @ @ | ms anvza! ‘ant Male bit female bird Fig. 3.13 Sex determination in birds + Im birds, the females are heterogametic and Produce two types of eggs; 50% eggs with 2 chromosome, while 50% eggs with W- chromosome, @ scanned with OKEN Scanner34 + Males are homogametic and produce one type of sperms ie. Z-sperm. Thus sex of individual is determined by the type of egg (ova) fertilized by the sperm. (c)Sex Determination in honey bee! (Haplo-diploid type) : In honey bees the females are diploid (2n = 32) and males are haploid (n =16). + The female produces haploid eggs (n ~16) by meiosis and male produces haploid sperms (n =16) mitosis, + Ifthe egg is fertilized by sperm, the zygote develops into a diploid female (2n = 32, queen and worker) while the unfertilised egg parthenogenetically develops into haploid male (n = 16, Drone) i {une (eS —— al ante > Gp Gp [etn \ / Parents Leantenoenci ase an-92 5) a hie Pires Fig. 3.14 Sex determination in honey bees 3.12 GENETIC DISORDERS : + Genetic Disorders may be Mendelian disorders and chromosomal disorders. + Mendelian disorders are mainly caused due to alteration or mutation in the gene. eg Thalassemia, sickle-cellanaemia, colourblindness, haemophilia, phenylketonuria, etc. + Chromosomal disorders are caused due absence or excess of one or more chromosomes or their abnormal arrangment. For e.g. Down's syndrome, Turner's syndrome, Klinefelter's syndrome ete. Thalassemia : + It is an autosomal, recessive disorder due to synthesis of defective haemoglobin molecule. Haemoglobin molecule has four polypeptide chains- 2 alpha (a) and 2 beta (f) chains. The synthesis of alpha chains are controlled by two genes (HBA1 and HBA2) on chromosome 16 while the synthesis of beta chain is controlled by a single gene (HBB) on chromosome 11. + Thalassemia is caused due to deletion or mutation of gene which codes for alpha (a) and beta (B) globin chains that result in abnormal synthesis of haemoglobin, Symptoms of Thalassemia include anaemia, pale yellow skin, change in size and shape of RBCs, slow growth and development, dark urine, etc. Massive blood transfusion is needed to these to patients, © power eymtonomel disorder caused duc to presence Ua 88 88 88 88 80 68 8088 * Klinefeltes + They are feminized tall, sterile males with UTTAM's_XIl Biology Papers Solution ‘Syndrome (21" trisomy) : chromosome(Trisomy) have 47 chromosomes bite apes of 27 ch These indivcials wil Fisted ofthe norma number 46, inet tet non-ajunction of chromosomes Mra during gamete formation. re PaMaacterbtie, features of this disorder Tne patente mental retardation, poor skeletal development, small head, ears and mouth, flat eeseea tice with. flat nose, open mouth, voling tongue, slanting eyelide with Internal Peanthal folds, Aat hands and stubby fingers fand palm with single crease. Fig. 3.15 Down's syndrome ai 45 5 9 1 Mm 12 13 14 15 16 an aim ttt 20 22 Fig. 3.16 Karyotype of down's syndrome * Turner's Syndrome (X monosomy / XO females) : Its sex chromosomal disorder caused due to non- disjunction of chromosome during gamete formation. Individual with Turner's syndrome has 44 autosomes with XO, They are phenotypically female. They have a short stature (height) and webbed neck, lower posterior hair line, broad shield- shaped chest, poorly developed ovaries and breast, and low intelligence syndrome (XXY males) : It is a sex chromosomal disorder caused due to an extra X chromosome in males. Thus, genotype of individuals is 44 + XX¥. The extra X chromosome is a result of non-disjunction of X-chromosome during meiosis masculine development, long arms, high pitched voice, developed breasts (Gynaecomastia) and under developed testis Aarau @ scanned with OKEN Scanner