TY - JOUR
T1 - Diversity of β-Globin Nutations in Israeli Ethnic Groups Reflects Recent Historic Events
AU - Filon, Dvora
AU - Oron, Varda
AU - Krichevski, Svetlana
AU - Shaag, Avraham
AU - Shaag, Yechezkel
AU - Warren, Tina C.
AU - Goldfarb, Ada
AU - Shneor, Yona
AU - Koren, Ariel
AU - Aker, Mehmet
AU - Abramov, Ayala
AU - Rachmilewitz, Eliezer A.
AU - Rund, Deborah
AU - Kazazian, Haig H.
AU - Oppenheim, Ariella
PY - 1994
Y1 - 1994
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028175486&partnerID=8YFLogxK
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 8178823
AN - SCOPUS:0028175486
SN - 0002-9297
VL - 54
SP - 836
EP - 843
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -