Diversity of [beta]-globin mutations in Israeli ethnic groups reflects recent historic events

Journal Article · Sun May 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6975517

Filon, D; Oron, V; Krichevski, S; Shaag, A; Goldfarb, A; Aker, M; Rachmilewitz, E A; Rund, D; Oppenheim, A ^[1]

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1. Hebrew Univ. Hadassah-Medical School, Jerusalem (Israel); and others

The authors characterized nearly 500 [beta]-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. They found 28 different mutations in the [beta]-globin gene, including three mutations ([beta][sup S], [beta][sup C], and [beta][sup 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. 26 refs., 2 figs., 3 tabs.

• OSTI ID: 6975517
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
BIOLOGY
DETECTION
DISEASES
GENE MUTATIONS
GENETICS
GLOBINS
HEMIC DISEASES
HUMAN POPULATIONS
MUTATIONS
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
SCREENING
SYMPTOMS
THALASSEMIA