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Evolution Quote by Siddhartha Mukherjee

“The real key to human gene mapping, Botstein had realized, was not finding the gene, but finding the humans. If a large-enough family bearing a genetic trait-any trait-could be found, and if that trait could be correlated with any of the variant markers spread across the genome, then gene mapping…” quote by Siddhartha Mukherjee
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““The real key to human gene mapping, Botstein had realized, was not finding the gene, but finding the humans. If a large-enough family bearing a genetic trait-any trait-could be found, and if that trait could be correlated with any of the variant markers spread across the genome, then gene mapping would become a trivial task. If all the members of a family affected by cystic fibrosis inevitably "co-inherited" some variant DNA marker, call it Variant-X, located on the tip of chromosome seven, then the cystic fibrosis gene had to sit in proximity to this location.””

Siddhartha Mukherjee

About This Quote

Source Book: The Emperor of All Maladies by Siddhartha Mukherjee, 2010

Mapping genes becomes easy when you study many related people, because shared DNA markers point to disease genes.

In simple terms: Study large families to locate disease genes.

Key Takeaway

Use family studies for gene discovery.

Themes

genetics research disease

Mood

analytical hopeful

Type

scientific educational

When to use this quote

  • medical research
  • genetic counseling
  • clinical trials
  • public health genetics

Key Concepts

linkage analysis population genetics heritage

Questions to Reflect On

  • How can we include diverse populations in gene mapping?
  • What are the limits of linkage analysis?
A Different Perspective

Family studies may miss rare mutations in isolated individuals.

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