title: Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews.
abstract: α-Thalassemia (α-thal) is among the world's most common single gene disorders, generally attributed to a selective advantage of heterozygotes against malaria mortality. A high frequency of -α3.7deletion heterozygosity has been previously reported in Ashkenazi Jews despite lack of obvious malarial selection pressure in this population. Using haplotype and -α3.7subtype analysis we analyzed a subset of -α3.7homozygotes from various Israeli ethnic groups. We found a high frequency of the common Ia haplotype in Yemenite Jews and Arabs (54% and 13% respectively). Ashkenazi Jews exhibited a high frequency of IIIb alleles (67%) previously reported only in Aboriginal Australians and not found in other Israeli ethnicities. Both Yemenites and Ashkenazim carried the rare IIh alleles (18% and 15% respectively). These results may suggest multiple founder effects in Ashkenazi Jews as well a common founder for both Yemenite and Ashkenazi Jews.
authors: Department of Hematology, Hadassah - Hebrew University Hospital, Jerusalem, Israel. Electronic address: ashaulov@gmail.com.
authors: Adir
authors: A
authors: Shaulov
authors: Department of Hematology, Hadassah - Hebrew University Hospital, Jerusalem, Israel.
authors: Dvora
authors: D
authors: Filon
authors: Department of Hematology, Hadassah - Hebrew University Hospital, Jerusalem, Israel.
authors: Deborah
authors: D
authors: Rund
mesh_terms: D018912:Arabs / Q000235:genetics; D002875:Chromosomes / Q000235:genetics; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics; D008288:Malaria / Q000235:genetics*; D009154:Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins
keywords: Ashkenazi jews; Gene deletions; Globin genes; Selection pressure; Thalassemia