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Mendelian Diseases among Roman Jews: Implications for the Origins of Disease Alleles

Department of Pediatrics (C.O., E.G-N., C.M.C., H.N., K.S., N.M., M.N., M.K., F.A., H.O.), New York School of Medicine, New York, New York 10016; Universita di Roma "La Sapienza" (C.D.), Rome, Italy; Ospedale Israelitico (E.D.), Rome, Italy; Ospedale Bambino Gesú (M.R.C.), Rome, Italy; Sourasky Medical Center (H.P.), Tel Aviv, Israel; Institute of Thrombosis and Hemostasis, Department of Hematology (H.P., U.S.), Chaim Sheba Medical Center, Tel-Hashomer, Israel; Department of Human Genetics (L.L., K.N.), Memorial Sloan-Kettering Cancer Center, New York, New York; and National Institute of Arthritis and Musculoskeletal Disorders (I.A., D.K.), National Institutes of Health, Bethesda, Maryland 20892

Address correspondence and requests for reprints to: Harry Ostrer, M.D., Human Genetics Program, Department of Pediatrics, New York University School of Medicine, 550 First Avenue, MSB 136, New York, New York 10016. E-mail: harry.ostrer{at}med.nyu.edu

The Roman Jewish community has been historically continuous in Rome since pre-Christian times and may have been progenitor to the Ashkenazi Jewish community. Despite a history of endogamy over the past 2000 yr, the historical record suggests that there was admixture with Ashkenazi and Sephardic Jews during the Middle Ages. To determine whether Roman and Ashkenazi Jews shared common signature mutations, we tested a group of 107 Roman Jews, representing 176 haploid sets of chromosomes. No mutations were found for Bloom syndrome, BRCA1, BRCA2, Canavan disease, Fanconi anemia complementation group C, or Tay-Sachs disease. Two unrelated individuals were positive for the 3849 + 10C->T cystic fibrosis mutation; one carried the N370S Gaucher disease mutation, and one carried the connexin 26 167delT mutation. Each of these was shown to be associated with the same haplotype of tightly linked microsatellite markers as that found among Ashkenazi Jews. In addition, 14 individuals had mutations in the familial Mediterranean fever gene and three unrelated individuals carried the factor XI type III mutation previously observed exclusively among Ashkenazi Jews. These findings suggest that the Gaucher, connexin 26, and familial Mediterranean fever mutations are over 2000 yr old, that the cystic fibrosis 3849 + 10kb C->T and factor XI type III mutations had a common origin in Ashkenazi and Roman Jews, and that other mutations prevalent among Ashkenazi Jews are of more recent origin.

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