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NCERT Solutions · Class 12 Biology Molecular Basis of Inheritance

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Exercises 5.11–5.14 (part 2 of 2)

  1. Exercise 5.11

    Explain (in one or two lines) the function of the followings:
    (a)
    Promoter
    (b)
    tRNA
    (c)
    Exons

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    (a) Promoter
    A DNA sequence lying towards the $\displaystyle 5$'-end (upstream) of the structural gene that provides the binding site for RNA polymerase; its position also defines which strand is the template and which the coding strand.
    (b) tRNA
    The adapter molecule that reads the codon on mRNA through its complementary anticodon and carries the corresponding amino acid to the ribosome for peptide bond formation.
    (c) Exons
    The coding or expressed sequences of a split gene; introns are removed by splicing and the exons are joined in a defined order, so exons are the sequences that appear in the mature, processed RNA.
  2. Exercise 5.12

    Why is the Human Genome project called a mega project?

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    Because of the sheer scale, cost, data and duration of what it set out to do.
    Size: the human genome has about \(\displaystyle 3 \times 10^9\) base pairs, and every one of them had to be sequenced.
    Cost: at the estimated US $$3$\displaystyle per base pair at the start, the total cost worked out to roughly **$9$\displaystyle billion US dollars**.
    Data: if the sequence from a single human cell were printed in books of $1000$\displaystyle pages with $1000$\displaystyle letters per page, it would fill about $3300$\displaystyle books — so high-speed computational devices were needed for storage, retrieval and analysis, and the project drove the growth of bioinformatics.
    Duration and coordination: a $13$\displaystyle -year project (launched $1990$\displaystyle , completed $2003$\displaystyle ) coordinated by the U.S. Department of Energy and the National Institute of Health, with the Wellcome Trust (U.K.) as a major partner and contributions from Japan, France, Germany, China and others.
    Breadth of goals: identify all ~$20,000$\displaystyle –$25,000$\displaystyle human genes, determine the sequence of the $3$ billion base pairs, store it in databases, improve tools for data analysis, transfer the technologies to other sectors such as industry, and address the ethical, legal and social issues (ELSI) arising from it.
  3. Exercise 5.13

    What is DNA fingerprinting? Mention its application.

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    DNA fingerprinting is a very quick technique for comparing the DNA of any two individuals by identifying differences at certain specific regions of the DNA sequence, instead of sequencing whole genomes.
    The regions used are repetitive DNA — chiefly satellite DNA, which shows a high degree of polymorphism and normally does not code for protein.
    It was developed by Alec Jeffreys, who used as a probe a mini-satellite called VNTR (Variable Number of Tandem Repeats); the copy number of the repeat varies from chromosome to chromosome and person to person, so hybridisation with the VNTR probe yields many bands of differing sizes.
    The banding pattern is characteristic of an individual and differs from person to person in a population, except in monozygotic (identical) twins.
    Steps in the classical technique: (i) isolation of DNA, (ii) digestion by restriction endonucleases, (iii) separation of fragments by electrophoresis, (iv) blotting onto nitrocellulose or nylon membrane, (v) hybridisation with the labelled VNTR probe, (vi) detection by autoradiography.
    Applications:
    Forensic science — DNA from any tissue (blood, hair-follicle, skin, bone, saliva, sperm) of an individual shows the same polymorphism, so it identifies a person from material left at a crime scene; PCR has made a single cell enough for the analysis.
    Paternity testing in cases of dispute, since the polymorphisms are inherited from parents to children.
    Determining population and genetic diversities, and work in genetic biodiversity and evolutionary biology.
  4. Exercise 5.14

    Briefly describe the following:
    (a)
    Transcription
    (b)
    Polymorphism
    (c)
    Translation
    (d)
    Bioinformatics

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    NCERT publishes no answers for this textbook, so there is nothing in the book to check this working against. It has also not yet been read through by hand.

    (a) Transcription
    The process of copying genetic information from one strand of DNA into RNA.
    It follows the principle of complementarity, except that adenine now pairs with uracil instead of thymine.
    Only a segment of the DNA, and only one strand (the template strand, polarity $\displaystyle 3$'→$\displaystyle 5$'), is copied — a transcription unit is defined by a promoter, a structural gene and a terminator.
    It is catalysed by DNA-dependent RNA polymerase in three steps — initiation, elongation and termination; in bacteria a single RNA polymerase does all three, associating transiently with the initiation factor (σ) and the termination factor (ρ).
    In eukaryotes there are three nuclear RNA polymerases (I for rRNAs, II for hnRNA, III for tRNA, 5srRNA and snRNAs), and the primary transcript must undergo splicing, capping and tailing before it leaves the nucleus as mRNA.
    (b) Polymorphism
    Variation at the genetic level, arising from mutations in somatic or germ cells.
    An allelic sequence variation is formally called a DNA polymorphism if more than one variant (allele) at a locus occurs in the population with a frequency greater than $\displaystyle 0.01$.
    Germ-cell mutations that do not impair reproduction spread through the population and keep accumulating generation after generation.
    Polymorphism is more likely in non-coding DNA, where a mutation has no immediate effect on an individual's reproductive ability.
    It ranges from single nucleotide changes (SNPs) to very large-scale changes, and is the basis of genetic mapping of the human genome, DNA fingerprinting, evolution and speciation.
    (c) Translation
    The polymerisation of amino acids to form a polypeptide, in the order and sequence dictated by the bases of the mRNA.
    Amino acids are first activated using ATP and linked to their cognate tRNA — charging of tRNA (aminoacylation).
    The ribosome is the site: the small subunit binds the mRNA, and translation begins at the start codon AUG, recognised only by the initiator tRNA.
    During elongation, charged tRNAs bind the appropriate codon by codon–anticodon base pairing, the ribosome moves codon to codon, and peptide bonds form (catalysed by the 23S rRNA ribozyme in bacteria).
    A release factor binds the stop codon, terminating translation and releasing the finished polypeptide.
    The translational unit lies between the start and stop codons and is flanked by untranslated regions (UTRs) at the $\displaystyle 5$'- and $\displaystyle 3$'-ends, which are needed for efficient translation.
    (d) Bioinformatics
    A new area of biology whose rapid development was closely associated with the Human Genome Project.
    The HGP generated an enormous amount of sequence data, which made high-speed computational devices necessary for its storage, retrieval and analysis.
    Specialised computer-based programs were developed for tasks that were humanly impossible — for example, aligning millions of sequenced fragments using their overlapping regions, and annotating the sequence to assign functions to different regions.
    In short, it applies computational tools to biological data such as DNA and protein sequences.