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Genetics and Evolution: Mendel, DNA and Darwin

Notes on genetics and evolution for competitive exams: Mendel's laws, DNA structure, chromosomes, genetic disorders, Lamarck, Darwin and the evidence for evolution.

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Genetics and Evolution: Mendel, DNA and Darwin — GK24 title card
Genetics and Evolution: Mendel, DNA and Darwin — GK24 title card

Two questions sit behind this chapter. How is a character passed from parent to offspring, and how do whole species change over long stretches of time? The first was answered in a monastery garden in the middle of the nineteenth century and the second on a voyage round the world in the same decades, and the two answers were only brought together in the twentieth century, when the gene was shown to be a stretch of DNA and natural selection was shown to act on the variation that genes produce. For the examination the chapter divides neatly: Mendel and his ratios, the chemistry of the gene, the disorders that follow from a faulty gene or an extra chromosome, and then the theories of evolution with the evidence for them.

Mendel and the laws of inheritance

Gregor Johann Mendel, an Austrian monk, worked on the garden pea, Pisum sativum, between 1856 and 1863 and published his results in 1866. He chose seven pairs of contrasting characters, such as tall and dwarf stem or round and wrinkled seed, and counted the offspring of thousands of crosses. He is called the Father of Genetics. Three laws came out of the work.

  • Law of dominance. Of a pair of contrasting factors in a hybrid, only one expresses itself; the other stays hidden.
  • Law of segregation, also called the law of purity of gametes. The two factors of a pair separate during gamete formation, so a gamete carries only one of them.
  • Law of independent assortment. Two pairs of characters are inherited independently of each other, which Mendel showed with the dihybrid cross.
CrossRatio in the second generation
Monohybrid, phenotypic3 : 1
Monohybrid, genotypic1 : 2 : 1
Dihybrid, phenotypic9 : 3 : 3 : 1

Two names belong beside Mendel's. William Bateson coined the word genetics in the first decade of the twentieth century, and Wilhelm Johannsen coined gene, genotype and phenotype. The chromosome theory of inheritance, which placed Mendel's factors on the chromosomes, was put forward by Sutton and Boveri in 1902.

The chemistry of the gene

The double helix structure of DNA was described by James Watson and Francis Crick in 1953, using the X-ray diffraction photographs produced by Rosalind Franklin and Maurice Wilkins; Watson, Crick and Wilkins shared the Nobel Prize in 1962. The essentials a paper will ask are these.

  • DNA is deoxyribonucleic acid. Its nitrogenous bases are adenine and guanine, which are purines, and cytosine and thymine, which are pyrimidines.
  • Adenine pairs with thymine through two hydrogen bonds and guanine with cytosine through three, which is why a strand's sequence fixes the sequence of its partner.
  • RNA carries uracil in place of thymine and has ribose in place of deoxyribose, and it is usually single-stranded.
  • The flow of information, called the central dogma, runs from DNA to RNA to protein.
  • A human body cell has 46 chromosomes in 23 pairs: 22 pairs of autosomes and one pair of sex chromosomes, XX in a female and XY in a male.
  • The Human Genome Project was launched in 1990 and declared complete in 2003.

Genetic disorders worth remembering

DisorderNature
HaemophiliaX-linked recessive; blood does not clot normally
Colour blindnessX-linked recessive; red and green are confused
Sickle cell anaemiaAutosomal recessive; a single base change alters haemoglobin
ThalassaemiaAutosomal recessive; reduced synthesis of a globin chain
Down syndromeAn extra copy of chromosome 21, so 47 chromosomes in all
Turner syndromeA female with a single X and no second sex chromosome, 45 in all
Klinefelter syndromeA male with an extra X, 47 in all

The theories of evolution

  • Lamarck held that an organ used often grows stronger and one left unused withers, and that such acquired characters pass to the offspring. The giraffe's neck was his example. The theory is rejected today because changes in the body do not alter the genes of the germ cells.
  • Charles Darwin published On the Origin of Species in 1859 after his voyage on HMS Beagle, and explained change by natural selection: individuals vary, more are born than can survive, those whose variations suit the environment leave more offspring, and the population shifts over generations. Alfred Russel Wallace reached the same idea independently. The finches of the Galapagos islands are the classic illustration of adaptive radiation.
  • Hugo de Vries proposed that evolution proceeds by sudden large mutations, working on the evening primrose.
  • Oparin and Haldane argued that life arose from simpler chemicals in the conditions of the early earth, and the Miller and Urey experiment of 1953 produced amino acids from a mixture of gases and an electric discharge, supporting the idea.

The evidence

Homologous organs have the same basic structure and origin but different functions, as in the forelimb of a man, a whale, a bat and a cheetah, and they point to a common ancestor, which is divergent evolution. Analogous organs do the same work but are built differently and have different origins, as in the wing of a bird and the wing of an insect, and they show convergent evolution. Vestigial organs, such as the vermiform appendix and the nictitating membrane of the eye, are remnants of organs that were useful in an ancestor. Fossils give the direct record, and Archaeopteryx, with the feathers of a bird and the teeth and tail bones of a reptile, is the standard connecting link. The darkening of the peppered moth in the industrial districts of England, called industrial melanism, is the example of natural selection seen within recorded time. In population genetics the Hardy-Weinberg principle states that allele frequencies in a large population stay constant from generation to generation unless an agency such as mutation, migration, genetic drift or selection disturbs them.

Exam Point of View

Five things are asked again and again. The first is Mendel's material and his ratios, so the pea plant, 3:1, 1:2:1 and 9:3:3:1 must be automatic. The second is the chemistry of DNA: who described the double helix and in which year, which base is a purine and which a pyrimidine, and which base RNA carries instead of thymine. The third is the chromosome count, where the usual trap is to ask for the number of pairs of autosomes rather than the total. The fourth is the disorder question, which asks either for the mode of inheritance, X-linked for haemophilia and colour blindness, or for the chromosome involved, number 21 for Down syndrome. The fifth is the theory question, pairing Lamarck with acquired characters, Darwin with natural selection and 1859, de Vries with mutation and Oparin and Haldane with the chemical origin of life. Homologous against analogous organs is the other regular, and the giveaway word in the option is function against structure.

Important Facts

Father of GeneticsGregor Johann Mendel
Plant used by MendelGarden pea, Pisum sativum, with seven pairs of contrasting characters
Monohybrid phenotypic ratio3 : 1
Monohybrid genotypic ratio1 : 2 : 1
Dihybrid phenotypic ratio9 : 3 : 3 : 1
Word genetics coined byWilliam Bateson
Word gene coined byWilhelm Johannsen
Chromosome theory of inheritanceSutton and Boveri, 1902
DNA double helixWatson and Crick, 1953
Purines and pyrimidinesAdenine and guanine are purines; cytosine and thymine are pyrimidines
Base unique to RNAUracil, in place of thymine
Human chromosome number46 in 23 pairs, of which 22 pairs are autosomes
Down syndromeAn extra copy of chromosome 21
On the Origin of SpeciesCharles Darwin, 1859
Inheritance of acquired charactersJean Baptiste Lamarck
Mutation theoryHugo de Vries, on the evening primrose
Connecting link between reptiles and birdsArchaeopteryx

Practice MCQs on this topic

Q1.General ScienceEasy

Gregor Mendel carried out his classical experiments on inheritance using which plant?

  1. A.Maize
  2. B.Garden pea
  3. C.Snapdragon
  4. D.Evening primrose
Show answer

Correct answer: B. Garden pea

Explanation

The correct answer is B, the garden pea, Pisum sativum. Mendel chose it because it breeds true, is easy to cross by hand, completes a generation in a single season and offers seven pairs of sharply contrasting characters such as tall against dwarf stem and round against wrinkled seed. Option A, maize, became an important material for later geneticists, above all for Barbara McClintock's work on transposable elements, but not for Mendel. Option C, the snapdragon or Antirrhinum, is the plant usually used to illustrate incomplete dominance, where a red and a white parent give pink offspring, so it appears in the same chapter but in a different place. Option D, the evening primrose or Oenothera, was the plant on which Hugo de Vries based his mutation theory. Keep the four pairings separate, because a question often supplies all of them as options.

Q2.General ScienceEasy

In a monohybrid cross, what is the phenotypic ratio in the second filial generation?

  1. A.1 : 2 : 1
  2. B.3 : 1
  3. C.9 : 3 : 3 : 1
  4. D.1 : 1
Show answer

Correct answer: B. 3 : 1

Explanation

The correct answer is B, 3 : 1. When two heterozygous plants of the first generation are crossed, three quarters of the offspring show the dominant character and one quarter the recessive one, because the recessive appears only when both factors in the pair are recessive. Option A, 1 : 2 : 1, is the genotypic ratio of the same cross, counting one homozygous dominant, two heterozygous and one homozygous recessive, and it is the commonest wrong answer because the question is often read carelessly. Option C, 9 : 3 : 3 : 1, is the phenotypic ratio of a dihybrid cross, where two pairs of characters are followed at once. Option D, 1 : 1, is the ratio obtained in a test cross, where a plant showing the dominant character is crossed with a homozygous recessive to find out whether it is pure or hybrid.

Q3.General ScienceMedium

The 9 : 3 : 3 : 1 ratio obtained in the second generation of a dihybrid cross demonstrates which of Mendel's laws?

  1. A.Law of dominance
  2. B.Law of segregation
  3. C.Law of independent assortment
  4. D.Law of use and disuse
Show answer

Correct answer: C. Law of independent assortment

Explanation

The correct answer is C, the law of independent assortment. In a dihybrid cross two pairs of characters are followed together, for example seed shape and seed colour, and the appearance of all four combinations in the proportion nine to three to three to one shows that the inheritance of one pair does not depend on the inheritance of the other. Option A, the law of dominance, is shown by the first generation, where only one of a pair of contrasting characters appears. Option B, the law of segregation or purity of gametes, is shown by the reappearance of the recessive character in the second generation of a monohybrid cross, which proves that the two factors separated cleanly at gamete formation. Option D is not Mendel's at all; use and disuse belongs to Lamarck's theory of evolution and is placed here as a distractor.

Q4.General ScienceHard

Who coined the term gene, along with the terms genotype and phenotype?

  1. A.William Bateson
  2. B.Wilhelm Johannsen
  3. C.Walter Sutton
  4. D.Thomas Hunt Morgan
Show answer

Correct answer: B. Wilhelm Johannsen

Explanation

The correct answer is B, Wilhelm Johannsen, the Danish botanist who gave the words gene, genotype and phenotype, distinguishing the hereditary constitution of an organism from its visible expression. Option A, William Bateson, coined the word genetics itself for the new science of inheritance and championed Mendel's rediscovered work in the English-speaking world, so he is the obvious confusion here. Option C, Walter Sutton, with Theodor Boveri put forward the chromosome theory of inheritance in 1902, which located Mendel's factors on the chromosomes. Option D, Thomas Hunt Morgan, worked on the fruit fly Drosophila and established linkage and the mapping of genes along a chromosome, winning the Nobel Prize for it. The set to memorise is Bateson for genetics, Johannsen for gene, Sutton and Boveri for chromosomes and Morgan for linkage.

Q5.General ScienceEasy

The double helix model of DNA was proposed in 1953 by which pair of scientists?

  1. A.Watson and Crick
  2. B.Hershey and Chase
  3. C.Avery and MacLeod
  4. D.Miller and Urey
Show answer

Correct answer: A. Watson and Crick

Explanation

The correct answer is A, Watson and Crick. James Watson and Francis Crick published the double helix model in 1953, with two strands running in opposite directions and bases paired on the inside, using the X-ray diffraction photographs produced by Rosalind Franklin and Maurice Wilkins; Watson, Crick and Wilkins shared the Nobel Prize in 1962. Option B, Hershey and Chase, showed in 1952 by labelling a bacteriophage that DNA and not protein is the material that enters a bacterium and directs it. Option C, Avery and MacLeod, with Colin MacCarty, identified DNA as the transforming principle in the 1940s, building on Griffith's experiment of 1928. Option D, Miller and Urey, performed the experiment of 1953 in which amino acids formed from a mixture of gases and an electric discharge, which belongs to the origin of life and not to the structure of DNA.

Q6.General ScienceMedium

Which nitrogenous base is present in RNA but absent in DNA?

  1. A.Thymine
  2. B.Uracil
  3. C.Guanine
  4. D.Adenine
Show answer

Correct answer: B. Uracil

Explanation

The correct answer is B, uracil. RNA carries adenine, guanine, cytosine and uracil, and the uracil occupies the place that thymine holds in DNA, pairing with adenine in the same way. Option A, thymine, is the reverse of the right answer: it is present in DNA and absent in RNA, and candidates in a hurry pick it because both words appear in the same sentence of the textbook. Option C, guanine, and option D, adenine, are purines and are present in both nucleic acids, so neither can be the answer. Two more points often asked with this one are that DNA has deoxyribose sugar where RNA has ribose, and that adenine pairs with thymine through two hydrogen bonds while guanine pairs with cytosine through three, which makes a region rich in guanine and cytosine harder to separate.

Q7.General ScienceMedium

How many pairs of autosomes are present in a normal human body cell?

  1. A.21
  2. B.22
  3. C.23
  4. D.46
Show answer

Correct answer: B. 22

Explanation

The correct answer is B, 22. A human body cell has 46 chromosomes arranged in 23 pairs, of which 22 pairs are autosomes, the chromosomes that are alike in both sexes, and the remaining pair is of sex chromosomes, XX in a female and XY in a male. Option A, 21, is placed to catch the candidate who is thinking of chromosome 21 and Down syndrome. Option C, 23, is the total number of pairs including the sex pair, and it is also the number of chromosomes in a human gamete, which is haploid; it is the answer most often given by mistake. Option D, 46, is the total number of chromosomes and not a number of pairs. The habit worth building is to notice whether a question asks for chromosomes or for pairs, and whether it asks for autosomes or for all chromosomes.

Q8.General ScienceMedium

Down syndrome is caused by an extra copy of which chromosome?

  1. A.Chromosome 13
  2. B.Chromosome 18
  3. C.Chromosome 21
  4. D.The X chromosome
Show answer

Correct answer: C. Chromosome 21

Explanation

The correct answer is C, chromosome 21. A person with Down syndrome carries three copies of chromosome 21 instead of two, a condition called trisomy 21, so the total chromosome number is 47 rather than 46. It arises when the pair fails to separate during gamete formation. Option A, an extra chromosome 13, and option B, an extra chromosome 18, are also trisomies, named after Patau and Edwards respectively, and are offered here because the pattern of the answer looks the same. Option D, an extra X chromosome, produces Klinefelter syndrome in a male, with 47 chromosomes written as XXY; the related condition in which a female has a single X and a total of 45 is Turner syndrome. Keep the chromosomal disorders in one list and the gene disorders such as haemophilia and sickle cell anaemia in another.

Q9.General ScienceEasy

Charles Darwin published his book On the Origin of Species in which year?

  1. A.1831
  2. B.1859
  3. C.1866
  4. D.1900
Show answer

Correct answer: B. 1859

Explanation

The correct answer is B, 1859. Darwin set out in that book the theory of evolution by natural selection, drawing on observations made during his voyage on HMS Beagle, among them the finches of the Galapagos islands whose beaks differ with their diet. Option A, 1831, is the year the Beagle sailed, and it is the near miss most often chosen. Option C, 1866, is the year Mendel published his paper on the pea, which belongs to the other half of this chapter and was not noticed until the start of the next century. Option D, 1900, is the year in which three botanists independently rediscovered Mendel's work, so it is a real date but not Darwin's. Note also that Alfred Russel Wallace arrived at natural selection independently, and that the two men's ideas were first presented together in 1858.

Q10.General ScienceMedium

The theory of inheritance of acquired characters was given by which scientist?

  1. A.Charles Darwin
  2. B.Jean Baptiste Lamarck
  3. C.Hugo de Vries
  4. D.Alfred Russel Wallace
Show answer

Correct answer: B. Jean Baptiste Lamarck

Explanation

The correct answer is B, Jean Baptiste Lamarck. He held that an organ used often becomes stronger and one left unused withers, and that characters so acquired in a lifetime are passed to the offspring, the giraffe's lengthening neck being his best known illustration. The theory is rejected because changes in body cells do not alter the DNA of the germ cells that form the next generation. Option A, Darwin, explained the same observations by natural selection acting on variation already present in a population. Option C, Hugo de Vries, proposed that evolution proceeds by sudden large mutations, working on the evening primrose. Option D, Wallace, arrived at natural selection independently of Darwin while working in the Malay archipelago. The pairing to fix is Lamarck with use and disuse, Darwin and Wallace with natural selection, and de Vries with mutation.

Q11.General ScienceMedium

The forelimbs of a man, a whale, a bat and a cheetah have the same basic structure but perform different functions. Such organs are called

  1. A.Analogous organs
  2. B.Homologous organs
  3. C.Vestigial organs
  4. D.Atavistic organs
Show answer

Correct answer: B. Homologous organs

Explanation

The correct answer is B, homologous organs. The same arrangement of bones, humerus, radius and ulna, carpals, metacarpals and phalanges, is used for walking in a man, for swimming in a whale, for flight in a bat and for running in a cheetah, which indicates descent from a common ancestor and is called divergent evolution. Option A, analogous organs, are the opposite case: the same function performed by structures of different origin, as in the wing of a bird and the wing of an insect, which shows convergent evolution. Option C, vestigial organs, are reduced remnants of organs that were functional in an ancestor, such as the vermiform appendix and the nictitating membrane of the human eye. Option D is not a standard category; atavism refers to the reappearance of an ancestral character in an individual, such as a human infant born with a short tail.

Q12.General ScienceMedium

Archaeopteryx is regarded as a connecting link between which two groups of animals?

  1. A.Fishes and amphibians
  2. B.Amphibians and reptiles
  3. C.Reptiles and birds
  4. D.Reptiles and mammals
Show answer

Correct answer: C. Reptiles and birds

Explanation

The correct answer is C, reptiles and birds. The fossil of Archaeopteryx carries feathers and wings like a bird together with teeth in the jaws, claws on the wings and a long tail with bones, all reptilian features, so it stands as the standard example of a connecting link in the fossil record. Option A is wrong: the lobe-finned fishes and the fossil Ichthyostega are the forms placed between fishes and amphibians, and the living lungfish is often cited in the same connection. Option B is wrong because Seymouria is the fossil usually given as the link between amphibians and reptiles. Option D is wrong because the egg-laying mammals, the duck-billed platypus and the spiny anteater, are the living forms that connect reptiles with mammals. Remember that a connecting link shows features of two groups at once, which is why such fossils are evidence of descent with modification.

Frequently Asked Questions

Why is Mendel called the Father of Genetics?

Because he was the first to show that inheritance follows definite numerical rules. Working on the garden pea between 1856 and 1863, he chose seven pairs of clearly contrasting characters, crossed pure-breeding plants, counted thousands of offspring and found constant ratios such as three to one in the second generation. From those counts he inferred that each character is carried by a pair of particulate factors, one from each parent, which is the gene in all but name. His paper of 1866 was ignored for about thirty-five years before it was rediscovered.

What are the three laws of Mendel?

The law of dominance, that in a hybrid only one of a pair of contrasting factors expresses itself; the law of segregation, also called the law of purity of gametes, that the two factors of a pair separate during gamete formation so that each gamete carries only one; and the law of independent assortment, that two pairs of characters are inherited independently of each other. The first two come from the monohybrid cross and the third from the dihybrid cross.

What is the difference between DNA and RNA?

DNA has deoxyribose sugar, is normally double-stranded in a helix and carries the bases adenine, guanine, cytosine and thymine. RNA has ribose sugar, is usually single-stranded and carries uracil in place of thymine. DNA stores the genetic information in nearly all organisms, while RNA mainly carries and translates it, as messenger RNA, transfer RNA and ribosomal RNA. In some viruses RNA itself is the genetic material.

How many chromosomes does a human being have?

A normal human body cell has 46 chromosomes arranged in 23 pairs. Of these, 22 pairs are autosomes and one pair is of sex chromosomes, XX in a female and XY in a male. A gamete, being haploid, carries 23. Questions often ask for the number of pairs of autosomes, which is 22, rather than the total, so read the wording carefully.

What is the difference between homologous and analogous organs?

Homologous organs share the same basic structure and embryonic origin but have come to perform different functions, as the forelimb of a man, a bat, a whale and a cheetah do; they indicate descent from a common ancestor, which is divergent evolution. Analogous organs perform the same function but differ in structure and origin, as the wing of a bird and the wing of an insect do; they indicate convergent evolution, where unrelated groups meet similar demands in similar ways.

Why is Lamarck's theory not accepted today?

Lamarck held that an organ grows with use and withers with disuse, and that such characters acquired in a lifetime pass to the offspring. The objection is biological: changes in body cells, such as a strengthened muscle, do not alter the DNA of the germ cells that form the next generation, so they cannot be inherited. The example usually cited against him is that the children of a weightlifter are not born with larger muscles. Darwin's explanation, selection acting on variation already present, replaced it.

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