Kalvi.NEET

Human Genome Project

மனித மரபணு திட்டம்

NCERT Class 12 · Molecular Basis of Inheritance · 4 NEET questions

The Human Genome Project is not just history; it is the blueprint of your existence. 3 billion base pairs define your phenotype, yet 99.9% of that sequence is identical in every human. If you cannot distinguish between a gene and a non-coding sequence, you are not ready for the exam.

The idea

HGP was a 13-year mega project launched in 1990 to sequence the entire human genome. It aimed to identify all 20,000-25,000 genes using automated DNA sequencers and bioinformatics. Scientists utilized BAC (Bacterial Artificial Chromosome) and YAC (Yeast Artificial Chromosome) as vectors for cloning. The project successfully mapped the 3 billion base pairs, providing a foundational database for modern genetics.

Why it matters

It exists to provide a complete map of human genetic information, enabling advancements in medicine, diagnostics, and understanding human evolution.

NEET lens

NEET focuses on the methodology: remember BAC and YAC as cloning vectors. Do not confuse the number of genes (20,000-25,000) with the number of base pairs (3 billion). Frequently asked questions target the project duration and the role of bioinformatics.

Clinical significance

Understanding the genome allows for the identification of single nucleotide polymorphisms (SNPs) linked to hereditary diseases. When this genetic information is decoded, clinicians can predict susceptibility to disorders like Cystic Fibrosis or Huntington’s disease. Precision medicine relies entirely on this genomic data to tailor treatments.

Introduction

The Human Genome Project (HGP), launched in 1990 and completed in 2003, aimed to determine the complete DNA sequence of the human genome. It was a 13-year mega project.

Core concept

Goals: identify all the genes (about 20,000-25,000) in human DNA; determine the sequences of the 3 billion chemical base pairs; store the information in databases; improve tools for data analysis; transfer related technologies to other sectors; address ethical, legal and social issues (ELSI). Methods: Expressed Sequence Tags (ESTs) — identifying all genes that are expressed as RNA; Sequence Annotation — sequencing the whole set of genome, coding and non-coding, and later assigning functions (the 'blind' approach). DNA was broken into fragments, cloned in host vectors such as BAC (bacterial artificial chromosomes) and YAC (yeast artificial chromosomes), and sequenced with automated sequencers (based on Frederick Sanger's method). Salient features: the human genome contains 3164.7 million bp; the total number of genes is estimated at about 30,000; average gene has 3000 bases (largest, dystrophin, 2.4 million bases); less than 2% of the genome codes for proteins; chromosome 1 has most genes (2968), Y has the fewest (231); about 1.4 million single-base DNA differences (SNPs) identified.

Go deeper

Repeated sequences make up a large portion of the human genome. Bioinformatics — the use of computers to store and analyse biological data — grew alongside HGP.

From Class 10

Imagine writing down every letter of a 3-billion-letter book that describes how to build a human — that is what HGP did.

Previous year NEET questions (4)

  1. NEET 2023

    Expressed Sequence Tags (ESTs) refers to

    1. Certain important expressed genes.
    2. All genes that are expressed as RNA.
    3. All genes that are expressed as proteins.
    4. All genes whether expressed or unexpressed.
    Show answer

    Answer: (B) All genes that are expressed as RNA.

  2. NEET 2022

    If a geneticist uses the blind approach for sequencing the whole genome of an organism, the methodology is called:

    1. Expressed sequence tags
    2. Bioinformatics
    3. Sequence annotation
    4. Gene mapping
    Show answer

    Answer: (C) Sequence annotation

  3. NEET 2019

    Expressed Sequence Tags (ESTs) refers to :

    1. (1) Genes expressed as RNA
    2. (2) Polypeptide expression
    3. (3) DNA polymorphism
    4. (4) Novel DNA sequences
    Show answer

    Answer: (A) (1) Genes expressed as RNA

  4. NEET 2014

    Commonly used vectors for human genome sequencing are

    1. T-DNA
    2. BAC and YAC
    3. expression Vectors
    4. T/A cloning Vectors
    Show answer

    Answer: (B) BAC and YAC

Practise in the free app

Spotted a mistake? Use “Report a problem” in the app, or email vthejaswin@tvpstudios.co.in