Q5(b) · UPSC Civil Services Mains 2022 · Anthropology GS 1 · 10 marks · 1 min read

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Genetic imprinting in human diseases

Topic: Applications of Anthropology. Syllabus: 12. Applications of Anthropology: Anthropology of sports, Nutritional anthropology, Anthropology in designing of defence and other equipments, Forensic Anthropology, Methods and principles of personal identification and reconstruction, Applied human genetics—Paternity diagnosis, genetic counselling and eugenics, DNA technology in diseases and medicine, serogenetics and cytogenetics in reproductive biology. Same official PYQ from year-wise 2022 and Applications of Anthropology.

Revision summary

Imprinting silences one parental copy of a gene. Haig tied the logic to parental conflict over growth. Paternal versus maternal loss at 15q yields Prader–Willi or Angelman. Beckwith–Wiedemann and Silver–Russell are growth-side examples. Counselling must record which parent transmitted the region.

Model answer

Introduction

Imprinting is parent-of-origin silencing of a gene. The same deletion can therefore cause two different diseases according to whether the chromosome came from the mother or the father.

Body

The mechanism

  • Epigenetic marks, not a change of DNA letters, switch one parental copy off. David Haig linked this to parental conflict over foetal growth.
  • Chromosome 15q is the teaching human region.

Disease pairs

  • Prader–Willi syndrome follows loss of the paternal 15q contribution. Angelman syndrome follows loss of the maternal UBE3A copy.
  • Beckwith–Wiedemann and Silver–Russell growth disorders involve imprinted loci on 11p.
  • Hydatidiform moles and some cancers show imprinting errors. Pedigree counselling must ask which parent transmitted the chromosome.

Anthropological note

  • This is non-Mendelian at the phenotype even though the deletion can be mapped. A simple dominant chart fails.

Flow diagram

flowchart TD
  I[Imprint] --> F[Father copy on]
  I --> M[Mother copy on]
  F --> PW[Prader Willi]
  M --> AN[Angelman]

Conclusion

Imprinting makes parent of origin a clinical fact. Prader–Willi and Angelman are the pair every counsellor names.

Quick related

Students also ask

  • Stages of human pre-natal development

    Next question in the 2022 paper (Q5). View answer →

  • Can a pedigree look Mendelian and still be imprinted?

    Transmission may look dominant, but only one parental origin produces the disease. That is the clue.

  • Is imprinting the same as sex linkage?

    No. Sex linkage is on X or Y. Imprinting can sit on an autosome and still care which parent it came from.

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