Major gene for percent of oxygen saturation of arterial hemoglobin in Tibetan highlanders

Am J Phys Anthropol. 1994 Nov;95(3):271-6. doi: 10.1002/ajpa.1330950303.

Abstract

This report employs a statistical genetic approach to analyze quantitative oxygen transport variables in a high-altitude (4,850-5,450 m) native Tibetan population and demonstrates the presence of a major gene influencing % O2 saturation of arterial hemoglobin. This result suggests the hypothesis that individuals with the dominant allele for higher % O2 saturation have a selective advantage at high altitude. Studies of the biologically distinctive Himalayan and Andean populations have greatly influenced thinking about ongoing human evolution and adaptation; this is the first statistical evidence for a major gene enhancing oxygen transport in a high-altitude native population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adaptation, Physiological / genetics
  • Adolescent
  • Adult
  • Altitude
  • Child
  • Female
  • Hemoglobins / genetics*
  • Hemoglobins / metabolism
  • Humans
  • Male
  • Middle Aged
  • Models, Genetic
  • Oxygen / metabolism*
  • Pedigree
  • Phenotype
  • Tibet / ethnology

Substances

  • Hemoglobins
  • Oxygen