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  • Give an account of the methods used in sequencing the human genome.

Give an account of the methods used in sequencing the human genome.

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Two approaches were involved in sequencing the human genome.

Using Expressed Sequence Tags (ESTs): In this approach, all the genes that are expressed as RNA are Identified and then sequenced.

Blind Approach: This approach involved sequencing the whole set of the genome and then assigning different regions in the sequence with functions. This is referred to as sequence annotation. This approach is comprised of the following steps:

  • Total DNA from a cell is isolated and converted into random fragments of smaller sizes.
  • These fragments are cloned in a suitable host by using specialised vectors. The cloning results in the amplification of each fragment, thus making it easier to sequence the fragment. Bacteria and yeast are the commonly used hosts for this purpose. The vectors were called BAC (bacterial artificial chromosomes) and YAC (yeast artificial chromosomes).
  • Automated DNA sequencers were used to sequence the fragments. Then these sequences were arranged on the basis of some overlapping regions present in them.
  • For generating overlapping fragments in these sequences; help of computer programmes was taken because it was not possible for humans to do so.
  • Then the sequences were annotated and assigned to each chromosome.
  • Genetic physical mapping of the genome was done based on polymorphism in some segments of the DNA.
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