Q1(d) · UPSC Civil Services Mains 2022 · Anthropology GS 1 · 10 marks · 1 min read

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Pedigree analysis in genetic counselling

Topic: Genetic imprints in human disease, genetic screening, genetic counseling, human DNA profiling, gene mapping and genome study.. Syllabus: (d) Genetic imprints in human disease, genetic screening, genetic counseling, human DNA profiling, gene mapping and genome study. Same official PYQ from year-wise 2022 and Genetic imprints in human disease, genetic screening, genetic counseling, human DNA profiling, gene mapping and genome study..

Revision summary

A pedigree uses standard symbols to show how a trait runs in a family. Dominant, recessive, and X-linked patterns can be read from the chart. Garrod linked such patterns to inborn errors of metabolism. Counselling uses the chart for recurrence risk, especially with consanguinity. Molecular tests refine, they do not replace, the family drawing.

Model answer

Introduction

A pedigree is a family tree drawn with standard symbols so that a Mendelian pattern can be seen. Genetic counselling uses it before any laboratory test.

Body

How the chart works

  • Squares are males, circles are females, shading marks the phenotype, and a double bar marks consanguinity.
  • Archibald Garrod and later clinical geneticists used such charts for inborn errors. Anthropology still uses them for PTC, albinism, and haemophilia.
  • Autosomal dominant traits appear every generation. Recessive traits skip. X-linked traits, as in European royal haemophilia, spare fathers-to-sons.

Counselling use

  • The chart estimates recurrence risk for a couple, especially where cousin marriage is common, as in many Indian communities studied by L. D. Sanghvi.
  • It cannot replace molecular tests for incomplete penetrance, but it still frames the interview and the ethics of disclosure.

Flow diagram

flowchart TD
  P[Pedigree] --> M[Mendelian pattern]
  M --> R[Recurrence risk]
  R --> C[Counselling]

Conclusion

Pedigree analysis is the first Mendelian instrument of counselling. It turns a family story into a risk figure without pretending that genes are fate.

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