Biology-12 : 4 : Principles of Inheritance and Variation - Flashcards
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Which branch of biology developed as a consequence of studying genetic material?
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Molecular biology.
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| # | Question | Answer |
|---|---|---|
| 1 | Which branch of biology developed as a consequence of studying genetic material? | Molecular biology. |
| 2 | Name some scientists who contributed majorly to molecular biology according to the text. | Watson, Crick, Nirenberg, Khorana, Kornbergs, Benzer, Monod, and Brenner. |
| 3 | Which parallel biological problem was being tackled along with molecular genetics? | The mechanism of evolution. |
| 4 | Which areas enriched our understanding of the molecular basis of evolution? | Molecular genetics, structural biology, and bioinformatics. |
| 5 | What topics are examined in this unit? | Structure and function of DNA, and the story and theory of evolution. |
| 6 | What common scientific interest united Watson and Crick? | Solving the DNA structure. |
| 7 | When was the complementary double-helical configuration of DNA proposed? | Early in March 1953. |
| 8 | What led Watson and Crick to the successful DNA model? | More experimental evidence and better appreciation of nucleic acid literature. |
| 9 | Which proposal made by Watson and Crick in 1953 became historic? | The double-helical structure for DNA and the replication scheme. |
| 10 | Which branch of biology deals with inheritance and variation? | Genetics. |
| 11 | What does Genetics study? | Inheritance and variation of characters from parents to offspring. |
| 12 | Define inheritance. | Inheritance is the process by which characters are passed on from parent to progeny. |
| 13 | What is the basis of heredity? | Inheritance. |
| 14 | Define variation. | Variation is the degree by which progeny differ from their parents. |
| 15 | During which period did humans recognize that sexual reproduction causes variation? | Around 8000–1000 B.C. |
| 16 | How did humans exploit naturally occurring variations? | By selective breeding and domestication. |
| 17 | Which Indian cow breed is mentioned as an example of artificial selection? | Sahiwal cows of Punjab. |
| 18 | What did ancient humans lack regarding inheritance and variation? | Scientific understanding of these phenomena. |
| 19 | During which century was major progress made in understanding inheritance? | Mid-nineteenth century. |
| 20 | Who conducted hybridisation experiments on garden peas? | Gregor Mendel. |
| 21 | For how many years did Mendel conduct pea plant experiments? | Seven years (1856–1863). |
| 22 | What did Mendel propose from his experiments? | Laws of inheritance in living organisms. |
| 23 | What type of traits did Mendel study in pea plants? | Opposing contrasting traits. |
| 24 | Give examples of contrasting traits studied by Mendel. | Tall/dwarf plants and yellow/green seeds. |
| 25 | What is a true-breeding line? | A line that shows stable trait inheritance and expression after continuous self-pollination for several generations. |
| 26 | How many true-breeding pea plant varieties did Mendel select? | 14 varieties. |
| 27 | What was special about the pea plant varieties selected by Mendel? | They differed in only one character with contrasting traits. |
| 28 | Name the seven contrasting characters studied by Mendel in pea plants. | 1. Stem height – Tall/Dwarf, 2. Flower colour – Violet/White, 3. Flower position – Axial/Terminal, 4. Pod shape – Inflated/Constricted, 5. Pod colour – Green/Yellow, 6. Seed shape – Round/Wrinkled, 7. Seed colour – Yellow/Green |
| 29 | What kind of pollination experiments did Mendel perform? | Artificial pollination/cross-pollination experiments. |
| 30 | Which plants did Mendel cross in his monohybrid experiment? | Tall pea plants and dwarf pea plants. |
| 31 | What did Mendel call the units responsible for inheritance? | Factors. |
| 32 | Define genes according to the text. | Genes are units of inheritance containing information required to express a trait. |
| 33 | What are alleles? | Slightly different forms of the same gene controlling contrasting traits. |
| 34 | Which symbols are used for tall and dwarf traits in pea plants? | T for tall and t for dwarf. |
| 35 | What are the possible allele combinations for height in pea plants? | TT, Tt, and tt. |
| 36 | What is a homozygous condition? | A condition where both alleles are identical, such as TT or tt. |
| 37 | What is the genotype of a true-breeding tall pea plant? | TT. |
| 38 | What is the genotype of a true-breeding dwarf pea plant? | tt. |
| 39 | What is genotype? | The allelic composition of an organism. |
| 40 | What is phenotype? | The observable expression of a trait, such as tall or dwarf. |
| 41 | What is the phenotype of genotype Tt? | Tall. |
| 42 | What did Mendel conclude from the appearance of Tt plants? | One factor dominates over the other. |
| 43 | Which allele is dominant in pea plant height? | T (tallness). |
| 44 | Which allele is recessive in pea plant height? | t (dwarfness). |
| 45 | Why are capital and small letters used for alleles? | To represent dominant and recessive forms of the same gene. |
| 46 | Why should T and d not be used together for tall and dwarf? | Because they may not clearly indicate alleles of the same gene. |
| 47 | What is a heterozygous condition? | A condition where the two alleles are different, such as Tt. |
| 48 | Why is the cross between TT and tt called a monohybrid cross? | Because it involves one character (height). |
| 49 | What is a monohybrid? | An organism heterozygous for genes controlling one character. |
| 50 | What is a monohybrid cross? | A cross between TT and tt involving one character. |
| 51 | During which process do alleles segregate from each other? | Meiosis. |
| 52 | How many alleles of a gene are transmitted to a gamete? | Only one allele. |
| 53 | Is segregation of alleles random? | Yes, segregation is a random process. |
| 54 | What is the probability of a gamete containing either allele in a heterozygote? | 50 percent. |
| 55 | Which allele is present in gametes of tall TT plants? | T allele. |
| 56 | Which allele is present in gametes of dwarf tt plants? | t allele. |
| 57 | What genotype is formed when T and t alleles unite during fertilisation? | Tt. |
| 58 | Why are Tt plants called heterozygous? | Because they contain contrasting alleles. |
| 59 | What is a Punnett Square? | A graphical representation used to calculate possible genotypes in a genetic cross. |
| 60 | Who developed the Punnett Square? | Reginald C. Punnett. |
| 61 | How are possible gametes represented in a Punnett Square? | Along the top row and left columns. |
| 62 | What is the probability of T pollen fertilising T eggs? | 50 percent. |
| 63 | What proportion of fertilisations produce TT genotype? | 1/4. |
| 64 | What proportion of fertilisations produce Tt genotype? | 1/2. |
| 65 | What proportion of fertilisations produce tt genotype? | 1/4. |
| 66 | What is the phenotypic appearance of Tt plants? | Tall. |
| 67 | Why can TT and Tt plants not be distinguished externally? | Both show the tall phenotype. |
| 68 | What is the genotype of dwarf plants according to Mendel? | Homozygous tt. |
| 69 | Why can phenotype alone not determine genotype in dominant traits? | Because both TT and Tt show the same dominant phenotype. |
| 70 | What is a test cross? | A cross between an organism showing dominant phenotype and a recessive parent to determine genotype. |
| 71 | Why is a test cross performed? | To determine whether a dominant phenotype organism is homozygous or heterozygous. |
| 72 | Which example is given for a test cross in the text? | Violet flower colour (V) dominant over white flower colour (v). |
| 73 | Which two laws did Mendel propose based on monohybrid crosses? | Law of Dominance and Law of Segregation. |
| 74 | State the first point of the Law of Dominance. | Characters are controlled by discrete units called factors. |
| 75 | State the second point of the Law of Dominance. | Factors occur in pairs. |
| 76 | State the third point of the Law of Dominance. | In a dissimilar pair of factors, one dominates over the other. |
| 77 | What happens to alleles during gamete formation according to the Law of Segregation? | Alleles separate so each gamete receives only one factor. |
| 78 | What type of gametes does a homozygous parent produce? | Similar gametes. |
| 79 | What type of gametes does a heterozygous parent produce? | Two kinds of gametes in equal proportion. |
| 80 | Which plant is used as an example of incomplete dominance? | Snapdragon (Antirrhinum sp.). |
| 81 | What was crossed in the snapdragon experiment? | True-breeding red-flowered (RR) and white-flowered (rr) plants. |
| 82 | What was the genotype of pink-flowered snapdragon plants? | Rr. |
| 83 | What is the genotype ratio in incomplete dominance? | 1 RR : 2 Rr : 1 rr. |
| 84 | What does every gene contain? | Information to express a particular trait. |
| 85 | How many copies of each gene are present in diploid organisms? | Two copies. |
| 86 | Why may alleles in a heterozygote differ from each other? | Due to changes modifying the information in one allele. |
| 87 | What example is used to explain dominance at the molecular level? | A gene coding for an enzyme. |
| 88 | What does the normal allele produce in the enzyme example? | A normal enzyme required for substrate transformation. |
| 89 | What are the three possible effects of a modified allele? | 1. Normal/less efficient enzyme, 2. Non-functional enzyme, 3. No enzyme at all |
| 90 | When are two alleles considered equivalent? | When both produce the same phenotype. |
| 91 | Which allele is generally dominant in enzyme-related inheritance? | The functioning or unmodified allele. |
| 92 | Why is a recessive trait expressed? | Due to non-functional enzyme or absence of enzyme production. |
| 93 | Which human trait is given as an example of co-dominance? | ABO blood grouping. |
| 94 | Which gene controls ABO blood groups in humans? | Gene I. |
| 95 | What is present on the plasma membrane of red blood cells in ABO blood groups? | Sugar polymers. |
| 96 | What does allele i produce? | No sugar. |
| 97 | Why do humans possess only two alleles of the ABO gene at a time? | Because humans are diploid organisms. |
| 98 | How many different genotypes are possible in human ABO blood groups? | Six genotypes. |
| 99 | What is multiple allelism? | Presence of more than two alleles governing the same character. |
| 100 | Why can multiple alleles be observed only at the population level? | Because an individual can possess only two alleles at a time. |
| 101 | Which trait in pea seeds is controlled by a single gene with alleles B and b? | Starch synthesis. |
| 102 | Which genotype produces large starch grains in pea seeds? | BB homozygotes. |
| 103 | Which genotype produces small starch grains in pea seeds? | bb homozygotes. |
| 104 | What is the seed shape of BB seeds after maturation? | Round. |
| 105 | What is the seed shape of bb seeds after maturation? | Wrinkled. |
| 106 | What type of dominance is shown by starch grain size in Bb seeds? | Incomplete dominance. |
| 107 | Why is dominance not considered an autonomous feature of a gene? | Because it depends on gene product and phenotype expression. |
| 108 | Which symbols are used for seed colour alleles in the dihybrid cross? | Y for yellow and y for green. |
| 109 | Which symbols are used for seed shape alleles in the dihybrid cross? | R for round and r for wrinkled. |
| 110 | How is the 9:3:3:1 ratio derived? | By combining 3:1 ratio for seed shape with 3:1 ratio for seed colour. |
| 111 | On which type of crosses was the Law of Independent Assortment based? | Dihybrid crosses. |
| 112 | What does the Punnett Square help explain in a dihybrid cross? | Independent segregation of two pairs of genes during meiosis. |
| 113 | Which alleles are considered for seed shape in the dihybrid cross? | R and r. |
| 114 | Which alleles are considered for seed colour in the dihybrid cross? | Y and y. |
| 115 | What proportion of gametes carries allele R? | 50 percent. |
| 116 | What proportion of gametes carries allele r? | 50 percent. |
| 117 | What proportion of gametes carries allele Y? | 50 percent. |
| 118 | What proportion of gametes carries allele y? | 50 percent. |
| 119 | Why is segregation of R/r independent of Y/y? | Because alleles assort independently during meiosis. |
| 120 | What are the four types of gametes produced by RrYy plants? | RY, Ry, rY, and ry. |
| 121 | What is the frequency of each gamete type in a dihybrid cross? | 25 percent or 1/4th. |
| 122 | How many total boxes are formed in the Punnett Square of a dihybrid cross? | 16 boxes. |
| 123 | What advancement helped scientists observe chromosomes clearly? | Advancements in microscopy. |
| 124 | What structures were observed doubling and dividing before cell division? | Chromosomes. |
| 125 | What important similarity exists between chromosomes and genes? | Both occur in pairs and segregate during gamete formation. |
| 126 | What important observation was made about chromosomes during meiosis? | Chromosomes occur in pairs and segregate during gamete formation. |
| 127 | Where are alleles located according to chromosomal theory? | On homologous sites of homologous chromosomes. |
| 128 | During which stage of meiosis do chromosome pairs align independently? | Anaphase I of meiosis. |
| 129 | What does independent alignment of chromosome pairs explain? | Independent assortment of genes. |
| 130 | What did Sutton and Boveri conclude from chromosome behaviour? | Pairing and separation of chromosomes lead to segregation of factors (genes). |
| 131 | Who proposed the Chromosomal Theory of Inheritance? | Walter Sutton and Theodore Boveri (though Sutton specifically united the knowledge and named it). |
| 132 | What did Sutton combine to formulate the Chromosomal Theory of Inheritance? | Chromosomal segregation and Mendelian principles. |
| 133 | Which scientist experimentally verified the Chromosomal Theory of Inheritance? | Thomas Hunt Morgan. |
| 134 | Which organism did Morgan use for genetic experiments? | Drosophila melanogaster (fruit fly). |
| 135 | Why was Drosophila melanogaster suitable for genetic studies? | It could be grown easily in the laboratory on simple synthetic medium. |
| 136 | What is the life cycle duration of Drosophila melanogaster? | About two weeks. |
| 137 | Why did Drosophila produce useful experimental data quickly? | A single mating produced a large number of progeny. |
| 138 | Why were male and female Drosophila easy to study? | Because the sexes are clearly distinguishable. |
| 139 | What advantage did hereditary variations in Drosophila provide? | Variations could be observed easily with low-power microscopes. |
| 140 | What type of crosses did Morgan perform in Drosophila? | Dihybrid crosses involving sex-linked genes. |
| 141 | Which female Drosophila traits were crossed by Morgan? | Yellow body and white eyes. |
| 142 | Which male Drosophila traits were crossed by Morgan? | Brown body and red eyes. |
| 143 | Why did Morgan conclude that genes did not assort independently? | Because parental combinations appeared more frequently than non-parental combinations. |
| 144 | On which chromosome were the studied genes located? | X chromosome. |
| 145 | What is linkage? | Physical association of genes on the same chromosome. |
| 146 | What is recombination? | Formation of non-parental gene combinations. |
| 147 | What did Morgan discover about tightly linked genes? | They showed very low recombination. |
| 148 | What did Morgan discover about loosely linked genes? | They showed higher recombination. |
| 149 | Which gene pair in Drosophila showed only 1.3% recombination? | White and yellow genes. |
| 150 | Which gene pair in Drosophila showed 37.2% recombination? | White and miniature wing genes. |
| 151 | Which student of Morgan mapped gene positions on chromosomes? | Alfred Sturtevant. |
| 152 | On what basis did Sturtevant map genes? | Frequency of recombination between gene pairs. |
| 153 | What are genetic maps used for today? | As starting points in sequencing whole genomes. |
| 154 | Which major project used genetic maps extensively? | Human Genome Sequencing Project. |
| 155 | Which scientist carried out several dihybrid crosses in Drosophila? | Thomas Hunt Morgan. |
| 156 | Why did Morgan perform dihybrid crosses in Drosophila? | To study sex-linked genes. |
| 157 | On which chromosome were the studied genes located? | X chromosome. |
| 158 | Define linkage. | Physical association of genes on the same chromosome. |
| 159 | Define recombination. | Generation of non-parental gene combinations. |
| 160 | What did Morgan discover about genes located on the same chromosome? | Some genes are tightly linked while others are loosely linked. |
| 161 | What is the characteristic of tightly linked genes? | Very low recombination frequency. |
| 162 | What is the characteristic of loosely linked genes? | Higher recombination frequency. |
| 163 | Which gene pair showed only 1.3% recombination in Drosophila? | White and yellow genes. |
| 164 | Which gene pair showed 37.2% recombination in Drosophila? | White and miniature wing genes. |
| 165 | Who used recombination frequency to map genes? | Alfred Sturtevant. |
| 166 | What did Sturtevant use as a measure of distance between genes? | Frequency of recombination. |
| 167 | What is a genetic map? | A map showing positions of genes on chromosomes. |
| 168 | Why are genetic maps important in modern biology? | They are used in sequencing whole genomes. |
| 169 | Which project extensively used genetic maps? | Human Genome Sequencing Project. |
| 170 | Why does Cross A show stronger linkage? | Because recombination frequency is lower. |
| 171 | What causes non-parental gene combinations? | Recombination. |
| 172 | What type of gene combinations appear more frequently in linked genes? | Parental gene combinations. |
| 173 | Which organism became a major model for linkage studies? | Drosophila melanogaster. |
| 174 | What key concept did Morgan establish through his experiments? | Genes located on the same chromosome show linkage and do not assort independently. |
| 175 | What are polygenic traits? | Traits controlled by three or more genes. |
| 176 | Why do polygenic traits show continuous variation? | Because multiple genes and environmental influence affect them. |
| 177 | Which human trait is given as an example of polygenic inheritance? | Human skin colour. |
| 178 | How is phenotype determined in polygenic inheritance? | By the additive effect of each allele. |
| 179 | Which genes are assumed to control human skin colour in the text? | A, B, and C. |
| 180 | Which alleles are responsible for dark skin colour? | Dominant alleles A, B, and C. |
| 181 | Which alleles are responsible for light skin colour? | Recessive alleles a, b, and c. |
| 182 | Which genotype produces the darkest skin colour? | AABBCC. |
| 183 | Which genotype produces the lightest skin colour? | aabbcc. |
| 184 | What type of skin colour results from three dominant and three recessive alleles together? | Intermediate skin colour. |
| 185 | What is pleiotropy? | A condition where a single gene affects multiple phenotypic traits. |
| 186 | What is a pleiotropic gene? | A gene showing multiple phenotypic expressions. |
| 187 | What usually causes pleiotropy? | Effect of a gene on metabolic pathways contributing to different phenotypes. |
| 188 | Which human disease is given as an example of pleiotropy? | Phenylketonuria. |
| 189 | Which enzyme gene is mutated in phenylketonuria? | Phenylalanine hydroxylase. |
| 190 | What are the phenotypic effects of phenylketonuria? | Mental retardation and reduced hair and skin pigmentation. |
| 191 | Which major topic begins after pleiotropy? | Sex determination. |
| 192 | What did Henking observe about sperm formation in insects? | 50% sperm received the X body and 50% did not. |
| 193 | What is the XO type of sex determination? | A mechanism where males have one X chromosome and females have two X chromosomes. |
| 194 | In XO sex determination, what do all eggs contain? | An X chromosome besides autosomes. |
| 195 | In XO sex determination, what types of sperm are produced? | Some with X chromosome and some without X chromosome. |
| 196 | Which offspring develop from sperm carrying an X chromosome in XO system? | Females. |
| 197 | Which offspring develop from sperm lacking an X chromosome in XO system? | Males. |
| 198 | Why is the X chromosome called a sex chromosome? | Because it determines sex. |
| 199 | What are autosomes? | Chromosomes other than sex chromosomes. |
| 200 | Which organism is an example of XO type sex determination? | Grasshopper. |
| 201 | What chromosome composition do male grasshoppers have? | One X chromosome plus autosomes. |
| 202 | What chromosome composition do female grasshoppers have? | Two X chromosomes plus autosomes. |
| 203 | What is the XY type of sex determination? | A system where males are XY and females are XX. |
| 204 | Which chromosome is smaller in XY type sex determination? | Y chromosome. |
| 205 | Which organisms are mentioned as having XY sex determination? | Humans and Drosophila. |
| 206 | What chromosome combination is present in human males? | XY. |
| 207 | What chromosome combination is present in human females? | XX. |
| 208 | What is male heterogamety? | A condition where males produce two different types of gametes with respect to sex chromosomes. |
| 209 | What are the two types of gametes produced in male heterogamety? | Gametes with X chromosome and gametes with Y chromosome (or without X in XO type). |
| 210 | Which organisms are examples of male heterogamety? | Humans and Drosophila. |
| 211 | What type of sex determination occurs in birds? | Female heterogamety. |
| 212 | What sex chromosomes are present in female birds? | ZW chromosomes. |
| 213 | What sex chromosomes are present in male birds? | ZZ chromosomes. |
| 214 | Which sex produces two types of gametes in birds? | Females. |
| 215 | What is the sex determining mechanism in humans? | XY type. |
| 216 | How many pairs of autosomes are present in humans? | 22 pairs. |
| 217 | Which chromosomes determine male characteristics in humans? | X and Y chromosomes. |
| 218 | What type of gametes are produced during human spermatogenesis? | 50% X-bearing sperm and 50% Y-bearing sperm. |
| 219 | What type of ova are produced in human females? | Only X-bearing ova. |
| 220 | What determines the sex of a child in humans? | Genetic makeup of the sperm. |
| 221 | What is the probability of having a male or female child in each pregnancy? | 50 percent each. |
| 222 | What is the basis of sex determination in honey bee? | Number of sets of chromosomes received by the individual. |
| 223 | How is a female honey bee produced? | By fertilisation of egg with sperm. |
| 224 | How is a male honey bee (drone) produced? | From an unfertilised egg by parthenogenesis. |
| 225 | What is the chromosome number in female honey bees? | Diploid, 32 chromosomes. |
| 226 | What is the chromosome number in male honey bees? | Haploid, 16 chromosomes. |
| 227 | What is the sex determination system in honey bee called? | Haplodiploid sex determination. |
| 228 | How do male honey bees produce sperms? | By mitosis. |
| 229 | What is mutation? | Alteration in DNA sequence causing changes in genotype and phenotype. |
| 230 | Besides recombination, what else produces variation in DNA? | Mutation. |
| 231 | What chromosomal changes occur due to deletion or duplication of DNA segments? | Chromosomal aberrations. |
| 232 | In which cells are chromosomal aberrations commonly observed? | Cancer cells. |
| 233 | What is a point mutation? | Change in a single base pair of DNA. |
| 234 | Which disease is a classical example of point mutation? | Sickle-cell anaemia. |
| 235 | What are frame-shift mutations caused by? | Insertions or deletions of DNA base pairs. |
| 236 | What are mutagens? | Chemical and physical factors that induce mutations. |
| 237 | Which radiation is mentioned as a mutagen? | UV radiation. |
| 238 | What is pedigree analysis? | Study of inheritance of traits over several generations in a family. |
| 239 | Why is pedigree analysis important in human genetics? | It helps trace inheritance of specific traits, abnormalities, or diseases. |
| 240 | Why are controlled crosses not possible in humans? | Ethical and biological limitations. |
| 241 | What does a pedigree chart represent? | Family history of inheritance of a particular trait across generations. |
| 242 | What is the carrier of genetic information? | DNA. |
| 243 | Where are genes located? | On DNA present in chromosomes. |
| 244 | What is a mutation? | An alteration or change in genetic material. |
| 245 | Into which two categories are genetic disorders broadly classified? | Mendelian disorders and chromosomal disorders. |
| 246 | What causes Mendelian disorders? | Mutation or alteration in a single gene. |
| 247 | How are Mendelian disorders transmitted? | According to Mendelian principles of inheritance. |
| 248 | Which method helps trace inheritance patterns of Mendelian disorders? | Pedigree analysis. |
| 249 | Name some common Mendelian disorders mentioned in the text. | Haemophilia, cystic fibrosis, sickle-cell anaemia, colour blindness, phenylketonuria, and thalassemia. |
| 250 | Can Mendelian disorders be dominant or recessive? | Yes. |
| 251 | Which disorder is mentioned as an X-linked recessive trait? | Haemophilia. |
| 252 | How is an X-linked recessive trait usually transmitted? | From carrier female to male progeny. |
| 253 | What causes colour blindness? | Defect in red or green cone cells due to mutation in genes on the X chromosome. |
| 254 | Which colours cannot be distinguished in red-green colour blindness? | Red and green. |
| 255 | What is the frequency of colour blindness in males? | About 8 percent. |
| 256 | What is the frequency of colour blindness in females? | About 0.4 percent. |
| 257 | Why is colour blindness more common in males? | Males have only one X chromosome. |
| 258 | What is the probability that the son of a carrier mother will be colour blind? | 50 percent. |
| 259 | Why is a carrier mother usually not colour blind? | Because the normal dominant allele masks the recessive allele. |
| 260 | Under what condition can a daughter become colour blind? | If the mother is a carrier and the father is colour blind. |
| 261 | What type of disease is haemophilia? | Sex-linked recessive disease. |
| 262 | What is affected in haemophilia? | A protein involved in blood clotting. |
| 263 | What happens in a haemophilic individual after a simple cut? | Non-stop bleeding occurs. |
| 264 | Can a heterozygous female transmit haemophilia? | Yes, to her sons. |
| 265 | Why is haemophilia rare in females? | The mother must be a carrier and the father haemophilic. |
| 266 | What type of inheritance does sickle-cell anaemia show? | Autosomal recessive inheritance. |
| 267 | Which alleles control sickle-cell anaemia? | HbA and HbS. |
| 268 | Which genotype shows sickle-cell disease? | HbSHbS. |
| 269 | What is the condition of heterozygous individuals (HbAHbS)? | They are carriers but usually unaffected. |
| 270 | What is the probability that a carrier parent transmits the mutant HbS gene? | 50 percent. |
| 271 | Which amino acid substitution causes sickle-cell anaemia? | Glutamic acid is replaced by valine at the sixth position of β-globin chain. |
| 272 | Which codon change causes sickle-cell anaemia? | GAG changes to GUG. |
| 273 | What happens to mutant haemoglobin under low oxygen tension? | It polymerises. |
| 274 | How does sickle-cell anaemia affect RBC shape? | RBCs change from biconcave discs to elongated sickle-shaped structures. |
| 275 | What type of inheritance does phenylketonuria show? | Autosomal recessive inheritance. |
| 276 | Which enzyme is absent in individuals with phenylketonuria? | Enzyme that converts phenylalanine into tyrosine. |
| 277 | What accumulates in phenylketonuria due to enzyme deficiency? | Phenylalanine. |
| 278 | Into what compounds is excess phenylalanine converted? | Phenylpyruvic acid and other derivatives. |
| 279 | What effect does accumulation of phenylalanine derivatives have on the brain? | Mental retardation. |
| 280 | Why are phenylalanine derivatives excreted in urine? | Due to poor absorption by the kidney. |
| 281 | What type of disease is thalassemia? | Autosomal-linked recessive blood disease. |
| 282 | How is thalassemia transmitted to offspring? | From heterozygous carrier parents. |
| 283 | What causes thalassemia? | Mutation or deletion affecting globin chain synthesis. |
| 284 | Which globin chains are affected in thalassemia? | Alpha (α) and beta (β) globin chains. |
| 285 | What is the main effect of abnormal globin synthesis in thalassemia? | Formation of abnormal haemoglobin causing anaemia. |
| 286 | What is α-thalassemia? | Disorder caused by reduced production of α-globin chains. |
| 287 | Which genes control α-thalassemia? | HBA1 and HBA2 genes. |
| 288 | On which chromosome are HBA1 and HBA2 located? | Chromosome 16. |
| 289 | What causes α-thalassemia? | Mutation or deletion of one or more α-globin genes. |
| 290 | What happens when more α-globin genes are affected? | Fewer alpha globin molecules are produced. |
| 291 | What is β-thalassemia? | Disorder caused by reduced production of β-globin chains. |
| 292 | Which gene controls β-thalassemia? | HBB gene. |
| 293 | On which chromosome is the HBB gene located? | Chromosome 11. |
| 294 | What causes β-thalassemia? | Mutation in one or both HBB genes. |
| 295 | How does thalassemia differ from sickle-cell anaemia? | Thalassemia is a quantitative defect, while sickle-cell anaemia is a qualitative defect. |
| 296 | What causes chromosomal disorders? | Absence, excess, or abnormal arrangement of chromosomes. |
| 297 | What is aneuploidy? | Gain or loss of one or more chromosomes due to failure of chromatid segregation. |
| 298 | What is polyploidy? | Increase in a whole set of chromosomes due to failure of cytokinesis. |
| 299 | In which organisms is polyploidy commonly observed? | Plants. |
| 300 | How many chromosomes are present in a normal human cell? | 46 chromosomes. |
| 301 | How many pairs of autosomes are present in humans? | 22 pairs. |
| 302 | What is trisomy? | Presence of an additional copy of a chromosome. |
| 303 | What is monosomy? | Absence of one chromosome from a pair. |
| 304 | What is genetics? | A branch of biology dealing with principles of inheritance and its practices. |
| 305 | Who first systematically studied inheritance? | Gregor Mendel. |
| 306 | What did Mendel call the units controlling characters? | Factors. |
| 307 | What are alleles? | Pairs of factors regulating the same character. |
| 308 | Which law states that dominant characters are expressed in heterozygous condition? | Law of Dominance. |
| 309 | In which condition are recessive traits expressed? | Homozygous condition. |
| 310 | Do characters blend in heterozygous condition according to Mendel? | No, characters do not blend. |
| 311 | Which law explains separation of alleles during gamete formation? | Law of Segregation. |
| 312 | Which types of dominance other than complete dominance are mentioned? | Incomplete dominance and co-dominance. |
| 313 | Which law states that factors assort independently during inheritance of two characters? | Law of Independent Assortment. |
| 314 | What is a Punnett Square? | A square tabular representation showing theoretical combinations of gametes. |
| 315 | What is genotype? | Genetic constitution or factors controlling characters. |
| 316 | What is phenotype? | Physical expression of characters. |
| 317 | What are linked genes? | Genes located on the same chromosome. |
| 318 | What happens to closely located linked genes? | They assort together. |
| 319 | What causes distantly located linked genes to assort independently? | Recombination. |
| 320 | What are sex-linked genes? | Genes linked to sex chromosomes. |
| 321 | What are autosomes? | Chromosomes other than sex chromosomes. |
| 322 | What are the sex chromosomes in human females? | XX. |
| 323 | What are the sex chromosomes in human males? | XY. |
| 324 | What are the sex chromosomes in male birds? | ZZ. |
| 325 | What are the sex chromosomes in female birds? | ZW. |
| 326 | What is mutation? | Change in genetic material. |
| 327 | What is a point mutation? | Change in a single base pair of DNA. |
| 328 | Which disease is caused by a point mutation in β-globin gene? | Sickle-cell anaemia. |
| 329 | What is pedigree analysis used for? | Studying inheritance of traits and disorders in families. |
| 330 | What causes polyploidy? | Increase in a whole set of chromosomes. |
| 331 | Which disorder is caused by mutation in phenylalanine hydroxylase gene? | Phenylketonuria. |
| 332 | Which blood disorder is a quantitative defect in globin synthesis? | Thalassemia. |
| 333 | Which blood disorder is a qualitative defect in globin function? | Sickle-cell anaemia. |
| 334 | Which scientist proposed the Chromosomal Theory of Inheritance? | Walter Sutton and Theodore Boveri (though Sutton specifically united the knowledge and named it). |
| 335 | Which organism did T.H. Morgan use for genetics experiments? | Drosophila melanogaster. |