title: Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.
abstract: We characterized nearly 500 beta-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. We found 28 different mutations in the beta-globin gene, including three mutations (beta S, beta C, and beta O-Arab) causing hemoglobinopathies. Marked genetic heterogeneity was observed in both the Arab (20 mutations) and Jewish (17 mutations) populations. On the other hand, two ethnic isolates--Druze and Samaritans--had a single mutation each. Fifteen of the beta-thalassemia alleles are Mediterranean in type, 5 originated in Kurdistan, 2 are of Indian origin, and 2 sporadic alleles came from Europe. Only one mutant allele--nonsense codon 37--appears to be indigenous to Israel. While human habitation in Israel dates back to early prehistory, the present-day spectrum of beta-globin mutations can be largely explained by migration events that occurred in the past millennium.
authors.affiliation: Hebrew University Hadassah-Medical School, Jerusalem, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Filon
authors.forename: V
authors.initials: V
authors.lastname: Oron
authors.forename: S
authors.initials: S
authors.lastname: Krichevski
authors.forename: A
authors.initials: A
authors.lastname: Shaag
authors.forename: Y
authors.initials: Y
authors.lastname: Shaag
authors.forename: T C
authors.initials: TC
authors.lastname: Warren
authors.forename: A
authors.initials: A
authors.lastname: Goldfarb
authors.forename: Y
authors.initials: Y
authors.lastname: Shneor
authors.forename: A
authors.initials: A
authors.lastname: Koren
authors.forename: M
authors.initials: M
authors.lastname: Aker
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005006:Ethnicity / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D007514:Islam; D007557:Israel; D007585:Jews; D008877:Middle East / Q000208:ethnology; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins