title: Origin and expansion of four different beta globin mutations in a single Arab village.
abstract: In Israel, as in several countries of the Mediterranean basin, beta-thalassemia is frequent among Arabs, and many different mutations in the beta 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.
authors.affiliation: Department of Community Genetics, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel. joelz@cc.huji.ac.il
authors.forename: Joël
authors.initials: J
authors.lastname: Zlotogora
authors.forename: Yasir
authors.initials: Y
authors.lastname: Hujerat
authors.forename: Luci
authors.initials: L
authors.lastname: Zalman
authors.forename: Saleh
authors.initials: S
authors.lastname: Barges
authors.forename: Dori
authors.initials: D
authors.lastname: Filon
authors.forename: Ariel
authors.initials: A
authors.lastname: Koren
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.forename: Aravinda
authors.initials: A
authors.lastname: Chakravarti
mesh_terms: D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000208:ethnology; D018912:Arabs / Q000235:genetics*; D001609:Beta-Globulins / Q000235:genetics*; D003241:Consanguinity; D006801:Humans; D007557:Israel / Q000453:epidemiology; D009154:Mutation; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000208:ethnology
chemical_list: D001609:Beta-Globulins