Origin and expansion of four different beta globin mutations in a single arab village

Joël Zlotogora, Yasir Hujerat, Luci Zalman, Saleh Barges, Dori Filon, Ariel Koren, Stavit A. Shalev, Aravinda Chakravarti

Research output: Contribution to journalArticlepeer-review

Abstract

In Israel, as in several countries of the Mediterranean basin, beta-thalassemia is frequent among Arabs, and many different mutations in the β globin gene have been identified. In a single Arab village, three different thalassemia mutations, as well as the sickle-cell mutation, were characterized. Using genealogical data as well as the results of screening in the village population, we were able to demonstrate/speculate on how mutations were introduced into the village and how they later expanded. The sickle-cell mutation became particularly prevalent in the village as the result of a founder effect due to a preference for consanguineous marriages.

Original languageEnglish (US)
Pages (from-to)659-661
Number of pages3
JournalAmerican Journal of Human Biology
Volume17
Issue number5
DOIs
StatePublished - Sep 1 2005

ASJC Scopus subject areas

  • Anatomy
  • Ecology, Evolution, Behavior and Systematics
  • Anthropology
  • Genetics

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