India’s Genome Mapping Reveals 180 Million DNA Variants

Syllabus: GS3/ Science and Technology

Context

• The GenomeIndia project has published preliminary findings based on genome sequencing of 9,772 individuals across 85 diverse Indian populations.

What is genome sequencing?

• It is the process of determining the complete DNA sequence of an organism’s genome, which includes all its genes and non-coding regions. 
• It involves identifying the exact order of the four nucleotide bases (adenine, cytosine, guanine, and thymine) that make up the DNA.

Key Findings of the study

• 180 million genetic variants discovered:
  • 130 million in autosomes (non-sex chromosomes).
  • 50 million in sex chromosomes (X and Y).
• Population-specific uniqueness: Certain variants are found exclusively in specific communities, pointing to localized genetic adaptations.
• Disease-related variants: Some variants indicate susceptibility or resistance to infectious diseases, while others relate to environmental adaptations, e.g., high altitude, low oxygen.

Importance of the study

• It enables personalized treatment protocols based on individual genetic makeup.
• It identifies genetic markers for complex diseases like diabetes, cancer, cardiovascular disorders.
• It helps in predicting drug response, minimizing adverse effects through pharmacogenomics.

Source: TH