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UPSC Optional 2025Question 20AnthropologyHuman Genetics : Methods and Application350 words

What are genetic markers ? Discuss their applications in understanding population variation, disease association and forensics. (Answer in 350 words)

Model answer & approach

- What are genetic markers ? Discuss their applications in understanding population variation, disease association and forensics. (Answer in 350 words)
Introduction
A genetic marker is any polymorphic DNA sequence of known chromosomal position whose variants can be scored reliably and follow Mendelian inheritance. Its usefulness lies not in what it does but in how faithfully it is transmitted and how cheaply it is typed.

Body
1. Classes of marker: the classical markers were phenotypic — the ABO, Rh, MN and Duffy blood groups, HLA antigens, haemoglobin variants, serum proteins and red-cell enzymes, PTC tasting. DNA markers displaced them: restriction fragment length polymorphisms, VNTR minisatellites, short tandem repeats, single nucleotide polymorphisms, insertion-deletions and Alu insertions, together with the two uniparental systems, mitochondrial DNA and the non-recombining Y.
2. Population variation: allele frequencies tested against Hardy-Weinberg expectation yield F-statistics, genetic distance and principal component analysis. Lewontin in 1972 used blood-group and protein loci to show that roughly eighty-five per cent of human variation lies within populations, removing the genetic basis for racial taxonomy. Uniparental haplogroups reconstruct history: African L lineages root the mitochondrial tree, M and N mark the exodus. In India very deep M lineages indicate long in-situ continuity while Y lineages record later male-mediated gene flow, the evidence behind the Ancestral North and South Indian model.
3. Disease association: family linkage on microsatellite maps located single-gene disorders; case-control association on SNP arrays finds common variants of small effect. Established results include HLA-B27 with ankylosing spondylitis, ApoE4 with Alzheimer's disease, TCF7L2 with type 2 diabetes and HbS with resistance to falciparum malaria. Pharmacogenetic markers now guide prescribing — G6PD deficiency before primaquine, CYP2C19 before clopidogrel — and sickle-cell and beta-thalassaemia carrier screening is national policy in tribal districts.
4. Forensics: autosomal STRs are the workhorse, typed as multiplex panels and reported with a random match probability computed from population-specific allele frequencies. Y-STRs resolve male lineages in sexual assault mixtures, mitochondrial DNA works on hair shafts and old bone, and kinship matching identifies mass-disaster victims. SNP panels now predict ancestry and pigmentation. India still has no dedicated DNA statute, the 2019 Bill having lapsed, so profiles enter as expert evidence.

Conclusion
The marker is chosen by the question asked: fast-mutating and neutral for identity, slow and deep for phylogeny, dense and genome-wide for disease. Its power is comparative, and it is only as good as the reference population behind it.
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