Haematologica, Vol 93, Issue 10, e60 doi:10.3324/haematol.13480
Copyright © 2008 by Ferrata Storti Foundation
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Reply to: [Factor XI mutation and the origin of Ashkenazi Jews. Haematologica 2008; 93:e59]

G. Zadra1, R. Asselta1, M.L. Tenchini1, G. Castaman2, U. Seligsohn3, P.M. Mannucci4, S. Duga1

1 Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
2 Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
3 The Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Israel
4 A. Bianchi Bonomi, Hemophilia and Thrombosis Center, University of Milan and Department of Medicine and Medical Specialties. IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy

Correspondence: Stefano Duga, Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy

Our current1 and previous studies2 unequivocally showed that the haplotype for factor XI type II mutation observed in Italians is identical with the founder haplotype discerned in Ashkenazi and Iraqi Jews as well as in Arabs.3 An age estimate disclosed that this ancestral type II mutation appeared in Jews more than 2,500 years ago.4 These findings make it very likely that type II mutation diffused into the Italian population and the Palestinian Arab population at later times when Jews settled in Italy as from the second century B.C, and after Arabs settled in Israel – in 622 A.D, respectively. Regarding type III mutation, haplotype analysis performed in Italians2 again identified complete identity with the founder haplotype discerned in Ashkenazi Jews.3 This mutation has not been observed among 1343 non-Ashkenazi Jews nor among 313 Arabs, and an age estimate revealed that it appeared in Ashkenazi Jews more recently than the type II mutation.3,4 Whether or not it first occurred in Roman Jews who resided in Rome from the second century B.C is questionable although in 3 out of 107 Roman Jews recently examined, heterozygosity for the type III mutation was detected.5

A linkage disequilibrium (LD) analysis, which could be of interest to compare the extent of LD between Italians and Ashkenazi Jews, was not feasible due to the limited number of Italian individuals bearing the type II (sixteen) and/or the type III (eight) mutations.

Zoosmann–Diskin's suggestion that the origin of Ashkenazi Jews in general, and the type III mutation in particular is in the Italian population is untenable because a recent analysis of more than 4000 samples from four genome-wide association studies clearly distinguished among Northwestern Europeans, Southeastern Europeans (including Italians) and Ashkenazi Jews.6


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  1. Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008;93:715-21.[Abstract/Free Full Text]
  2. Zadra G, Asselta R, Malcovati M, Santagostino E, Peyvandi F, Mannucci PM, et al. Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. Haematologica 2004;89:1332-40.[Abstract/Free Full Text]
  3. Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood 1997;90:2654-9.[Abstract/Free Full Text]
  4. Goldstein DB, Reich DE, Bradman N, Usher S, Seligsohn U, Peretz H. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am J Hum Genet 1999;64:1071-5.[Web of Science][Medline]
  5. Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, et al. Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J Clin Endocrinol Metab 1999;84:4405-9.[Abstract/Free Full Text]
  6. Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, et al. Discerning the ancestry of European Americans in genetic association studies. PLoS Genet 2008;4:e236.[CrossRef][Medline]




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