Association between human polymorphic DNA markers and hypoxia adaptation in Sherpa detected by a preliminary genome scan

Sandro Malacrida, Y. Katsuyama, Y. Droma, B. Basnyat, C. Angelini, M. Ota, G. A. Danieli

Research output: Contribution to journalArticlepeer-review


Genetic determinants of resistance to hypobaric hypoxia in the Sherpa are still unknown. Since adaptive gene variants must still be subjected to positive selection, linkage disequilibrium between such variants and specific alleles of flanking DNA markers is expected. Following this line of reasoning, we performed a human genome scan using 998 polymorphic DNA markers in 7 unrelated Sherpa porters living in the Solu-Khumbu area. This minimalist approach succeeded in detecting 8 DNA markers showing homozygosity for the same shared allele. Analysis of additional DNA samples from 2 more Sherpa porters focused our attention on three polymorphic DNA markers (D6S1697, D14S274, D17S1795) showing homozygosity for the same shared allele in 8 out 9 tested individuals. Analysis of DNA samples from Sherpa and non-Sherpa populations of Nepal proved HW equilibrium in both populations for markers D14S274 and D17S1795, while an excess of heterozygotes was observed in the Sherpa population for marker D6S1697. A significant difference in allele frequencies for D14S274 and D17S1795 between the two populations was observed. These findings exclude the possibility that homozygosity for 3 specific loci in 8 unrelated individuals might be ascribed to inbreeding or recent genetic drift. We therefore conclude that the chromosomal segments detected by such DNA markers may include genes involved in adaptation to hypobaric hypoxia.

Original languageEnglish
Pages (from-to)630-638
Number of pages9
JournalAnnals of Human Genetics
Issue number5
Publication statusPublished - Sep 2007


  • DNA markers
  • Genome-scan
  • Hypobaric hypoxia
  • Sherpa

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Association between human polymorphic DNA markers and hypoxia adaptation in Sherpa detected by a preliminary genome scan'. Together they form a unique fingerprint.

Cite this