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. 1994 May;54(5):836–843.

Diversity of β-Globin Mutations in Israeli Ethnic Groups Reflects Recent Historic Events

Dvora Filon, Varda Oron, Svetlana Krichevski, Avraham Shaag, Yechezkel Shaag, Tina C Warren, Ada Goldfarb, Yona Shneor, Ariel Koren, Mehmet Aker, Ayala Abramov, Eliezer A Rachmilewitz, Deborah Rund, Haig H Kazazian, Ariella Oppenheim
PMCID: PMC1918256  PMID: 8178823

Abstract

We characterized nearly 500 β-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. We found 28 different mutations in the β-globin gene, including three mutations (βS, βC, and βO-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 β-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 β-globin mutations can be largely explained by migration events that occurred in the past millennium.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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