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Home/Anthropology/Mains PYQ/2019/Paper I/Applied & Forensic Anthropology
UPSC MainsAnthropology Optional Paper I 2019 15 Marks Model Answer Available

Applied Human Genetics and Molecular Anthropology — 2019 Paper I

Question · 2019 · Paper I · 15 Marks

“Applied human genetics has come to touch every sphere of human life.” Discuss in light of recent advances in molecular anthropology.

Model Answer

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Approach

  • Demand of Question: Explain how advances in molecular genetics have expanded applied human genetics into health, reproduction, ancestry and forensic domains.
  • Structuring the Response: Link molecular techniques with major applications, then critically address ethical and anthropological concerns.
  • Key Dimensions to Cover: Human Genome Project, DNA sequencing, genomics, disease genes, pharmacogenomics, prenatal diagnosis, ancient DNA, forensics and genetic ethics.

Model Answer

Introduction: Advances in molecular anthropology and genomics have transformed human genetics from the study of inheritance into a powerful applied science relevant to medicine, reproduction, population history, forensics and public health.

  1. Disease diagnosis: Molecular techniques permit identification of mutations responsible for inherited disorders such as:
  • thalassaemia;
  • sickle-cell disease;
  • haemophilia;
  • several metabolic disorders.

DNA variation → Molecular diagnosis → Clinical management

  1. Carrier and prenatal screening: Molecular tests can identify carriers of recessive disorders and assist prenatal diagnosis, enabling genetic counselling and informed reproductive decisions.
  2. Genomic medicine: The Human Genome Project and subsequent whole-genome and exome sequencing have enabled identification of variants associated with both rare and complex diseases.
  3. Pharmacogenomics: Genetic variation influences how individuals metabolize drugs. Genomic information can help:
  • select suitable medicines;
  • determine dosage;
  • reduce adverse reactions.

This contributes to precision medicine.

  1. Cancer genetics: Molecular profiling of tumours identifies mutations associated with particular cancers and can guide targeted therapies.
  2. Forensic anthropology: DNA profiling assists:
  • identification of unknown remains;
  • paternity testing;
  • disaster-victim identification;
  • criminal investigation.

Mitochondrial DNA is particularly useful where nuclear DNA is highly degraded.

  1. Population and evolutionary studies: mtDNA, Y-chromosome markers and autosomal genomes have transformed understanding of:
  • human migrations;
  • population admixture;
  • genetic relationships;
  • demographic history.

Ancient DNA has revealed interactions of modern humans with Neanderthals and Denisovans.

  1. Adaptation: Molecular anthropology identifies genetic adaptations associated with:
  • high altitude;
  • diet;
  • infectious disease;
  • climate.

For example, EPAS1-related variation among Tibetans illustrates genomic adaptation to hypoxia.

  1. Public health: Population-specific genetic information can assist screening and prevention where particular inherited disorders occur at elevated frequencies.

Ethical concerns

The expanding reach of genetics also creates concerns regarding:

  • informed consent;
  • privacy of genomic data;
  • genetic discrimination;
  • commercialization;
  • ownership of biological samples;
  • stigmatization of populations;
  • revival of eugenic thinking.

Genetic information must also avoid genetic determinism, because most human traits emerge through gene-environment interaction.

Conclusion

Recent molecular advances have extended applied human genetics from clinical diagnosis to precision medicine, forensics and reconstruction of human history. Its contribution to human welfare is enormous, but anthropology insists that genomic applications remain ethically responsible and sensitive to social and cultural contexts.

2026 Health as a cultural construct. 2026 What is meant by a somatotype? Discuss the Heath-Carter anthropometric method, giving its advantages over that of Sheldon's method. How can somatotyping be applied in sports sciences? 2026 Anthropometry in ergonomics. 2025 Examine the utility of human remains in forensic analysis. Discuss the facial reconstruction technique.

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UPSC Anthropology Optional 2019 — Paper I

28 questions

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