Science and Society | Published:

A genetic profile of contemporary Jewish populations

Nature Reviews Geneticsvolume 2pages891898 (2001) | Download Citation



The Jews are an ancient people with a history spanning several millennia. Genetic studies over the past 50 years have shed light on Jewish origins, the relatedness of Jewish communities and the genetic basis of Mendelian disorders among Jewish peoples. In turn, these observations have been used to develop genetic testing programmes and, more recently, to attempt to discover new genes for susceptibility to common diseases.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    Shanks, H. Ancient Israel: A Short History from Abraham to the Roman Destruction of the Temple (Prentice-Hall Biblical Archaeological Society, Engelwood Cliffs, New Jersey, 1988).

  2. 2

    Ben-Sasson, H. H. A History of the Jewish People (Harvard Univ. Press, 1976).

  3. 3

    Goodman, R. M. & Motulsky, A. G. Genetic Diseases Among Ashkenazi Jews (Raven, New York, 1979).

  4. 4

    Bonne-Tamir, B. & Adam, A. Genetic Diversity Among Jews (Oxford Univ. Press, 1992).

  5. 5

    Cohen, S. J. D. The Beginnings of Jewishness (Univ. of California Press, Berkeley, California, 1999).

  6. 6

    Stillman, N. The Jews of Arab Lands (The Jewish Publication Society, Philadelphia, Pennsylvania, 1991).

  7. 7

    Weinryb, B. A History of the Jews in Poland (Jewish Publication Society of America, Philadelphia, Pennsylvania, 1973).

  8. 8

    Patai, R. & Patai-Wing, J. The Myth of the Jewish Race (Scribner, New York, 1975).

  9. 9

    Efron, J. M. Defenders of the Race: Jewish Doctors and Race Science in Fin-de-Siècle Europe (Yale Univ. Press, New Haven, Connecticut, 1994).

  10. 10

    Hammer, M. F. et al. Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc. Natl Acad. Sci. USA 97, 6769–6774 (2000).

  11. 11

    Skorecki, K. et al. Y chromosomes of Jewish priests. Nature 385, 32 (1997).

  12. 12

    Thomas, M. G. et al. Origins of Old Testament priests. Nature 394, 138–140 (1998).

  13. 13

    Thomas, M. G. et al. Y chromosomes traveling south: the Cohen modal haplotype and the origins of the Lemba — the “Black Jews of Southern Africa”. Am. J. Hum. Genet. 66, 674–686 (2000).

  14. 14

    Cohen, T. et al. Genetic studies on Cochin Jews in Israel. 1. Population data, blood groups, isoenzymes, and HLA determinants. Am. J. Med. Genet. 6, 61–73 (1980).

  15. 15

    Steinberg, A. G. et al. Genetic studies on Cochin Jews in Israel. 2. Gm and Inv data — polymorphism for Gm3 and for Gm1,17,21 without Gm(26). Am. J. Med. Genet. 6, 75–81 (1980).

  16. 16

    Goodman, R. M. Genetic Disorders Among Jewish People (Johns Hopkins Univ. Press, Baltimore, Maryland, 1979).

  17. 17

    Motulsky, A. G. Jewish diseases and origins. Nature Genet. 9, 99–101 (1995).

  18. 18

    Morell, R. J. et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339, 1500–1505 (1998).

  19. 19

    Filon, D. et al. Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events. Am. J. Hum. Genet. 54, 836–843 (1994).

  20. 20

    Oron-Karni, V. et al. Diversity of α-globin mutations and clinical presentation of α-thalassemia in Israel. Am. J. Hematol. 65, 196–203 (2000).

  21. 21

    Kerem, E. et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum. Genet. 96, 193–197 (1995).

  22. 22

    Oddoux, C. et al. Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J. Clin. Endocrinol. Metab. 84, 4405–4409 (1999).

  23. 23

    Zelante, L. et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6, 1605–1609 (1997).

  24. 24

    Zoller, B., Hillarp, A. & Dahlback, B. Activated protein C resistance caused by a common factor V mutation has a single origin. Thromb. Res. 85, 237–243 (1997).

  25. 25

    Tsui, L. C., Buetow, K. & Buchwald, M. Genetic analysis of cystic fibrosis using linked DNA markers. Am. J. Hum. Genet. 39, 720–728 (1986).

  26. 26

    Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. Am. J. Hum. Genet. 59, 603–612 (1996).

  27. 27

    Shpilberg, O. et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 85, 429–432 (1995).

  28. 28

    Goldstein, D. B. et al. 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. 64, 1071–1075 (1999).

  29. 29

    Bar-Sade, R. B. et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum. Mol. Genet. 7, 801–805 (1998).

  30. 30

    Nichols, W. C. et al. Mutations in the ER–Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93, 61–70 (1998).

  31. 31

    Lindee, M. S. Genetic disease since 1945. Nature Rev. Genet. 1, 236–241 (2000).

  32. 32

    Diaz, G. A. et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid β-glucosidase mutations. Am. J. Hum. Genet. 66, 1821–1832 (2000).

  33. 33

    Durst, R. et al. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 68, 1172–1188 (2001).

  34. 34

    Ritte, U., Neufeld, E., Broit, M., Shavit, D. & Motro, U. The differences among Jewish communities — maternal and paternal contributions. J. Mol. Evol. 37, 435–440 (1993).

  35. 35

    Blumen, S. C. et al. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology 55, 1267–1270 (2000).

  36. 36

    Lee, H. S. et al. Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt–Jakob disease. Am. J. Hum. Genet. 64, 1063–1070 (1999).

  37. 37

    Diez, O. et al. Identification of the 185delAG BRCA1 mutation in a Spanish gypsy population. Hum. Genet. 103, 707–708 (1998).

  38. 38

    Ellis, N. A. et al. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am. J. Hum. Genet. 63, 1685–1693 (1998).

  39. 39

    Berg, M. A. et al. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180 splice mutation in an oriental Jewish patient. Acta Paediatr. Suppl. 399, 112–114 (1994).

  40. 40

    Baer, Y. A History of the Jews in Christian Spain (Jewish Publication Society of America, Philadelphia, Pennsylvania, 1978).

  41. 41

    Zlotogora, J. High frequencies of human genetic diseases: founder effect with genetic drift or selection? Am. J. Med. Genet. 49, 10–13 (1994).

  42. 42

    Rund, D. et al. Evolution of a genetic disease in an ethnic isolate: β-thalassemia in the Jews of Kurdistan. Proc. Natl Acad. Sci. USA 88, 310–314 (1991).

  43. 43

    Cuthbert, A. W., Halstead, J., Ratcliff, R., Colledge, W. H. & Evans, M. J. The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study. J. Physiol. 482, 449–454 (1995).

  44. 44

    Pier, G. B. et al. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393, 79–82 (1998).

  45. 45

    Stephens, J. C. et al. Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes. Am. J. Hum. Genet. 62, 1507–1515 (1998).

  46. 46

    Kaback, M. M. Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model. Eur. J. Pediatr. 159 (Suppl. 3), S192–S195 (2000).

  47. 47

    Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch. Intern. Med. 159, 1529–1539 (1999).

  48. 48

    Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. J. Am. Med. Assoc. 275, 548–553 (1996).

  49. 49

    Committee on Genetics. American College of Obstetricians and Gynecologists. ACOG committee opinion. Screening for Canavan disease. Number 212, November 1998. Int. J. Gynaecol. Obstet. 65, 91–92 (1999).

  50. 50

    Hastbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204–211 (1992).

  51. 51

    Ellis, N. A. & German, J. Molecular genetics of Bloom's syndrome. Hum. Mol. Genet. 5, 1457–1463 (1996).

  52. 52

    Blumenfeld, A. et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am. J. Hum. Genet. 64, 1110–1118 (1999).

  53. 53

    Risch, N. J. Searching for genetic determinants in the new millennium. Nature 405, 847–856 (2000).

  54. 54

    Lonjou, C., Collins, A. & Morton, N. E. Allelic association between marker loci. Proc. Natl Acad. Sci. USA 96, 1621–1626 (1999).

  55. 55

    Dunning, A. M. et al. The extent of linkage disequilibrium in four populations with distinct demographic histories. Am. J. Hum. Genet. 67, 1544–1554 (2000).

  56. 56

    Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139–144 (1999).

  57. 57

    Kruglyak, L. Genetic isolates: separate but equal? Proc. Natl Acad. Sci. USA 96, 1170–1172 (1999).

  58. 58

    Kalaydjieva, L. et al. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur. J. Hum. Genet. 9, 97–104 (2001).

  59. 59

    Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 8, 1913–1923 (1999).

  60. 60

    Andersen, B. & Zoega, T. Icelandic genetics. Nature Biotechnol. 17, 517 (1999).

  61. 61

    Jenkins, T. The molecular basis of South African genetic porphyria established at last! S. Afr. Med. J. 87, 733–735 (1997).

  62. 62

    Peelen, T. et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am. J. Hum. Genet. 60, 1041–1049 (1997).

  63. 63

    Johannsson, O. et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am. J. Hum. Genet. 58, 441–450 (1996).

  64. 64

    Tonin, P. N. et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am. J. Hum. Genet. 63, 1341–1351 (1998).

  65. 65

    Weatherall, D. J. Phenotype–genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Rev. Genet. 2, 245–255 (2001).

  66. 66

    Sachar, H. M. The Course of Modern Jewish History (World Publishing Co., Cleveland, Ohio, 1958).

  67. 67

    American Jewish Yearbook (American Jewish Committee, Philadelphia, Pennsylvania, 2000).

  68. 68

    Ritte, U. et al. Mitochondrial DNA affinity of several Jewish communities. Hum. Biol. 65, 359–385 (1993).

  69. 69

    Santachiara Benerecetti, A. S. et al. The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Annu. Hum. Genet. 57, 55–64 (1993).

  70. 70

    Gilad, S. et al. Ataxia-telangiectasia: founder effect among north African Jews. Hum. Mol. Genet. 5, 2033–2037 (1996).

  71. 71

    Tamary, H. et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb. Haemost. 76, 283–291 (1996).

  72. 72

    Aksentijevich, I. et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 64, 949–962 (1999).

  73. 73

    Kronn, D., Oddoux, C., Phillips, J. & Ostrer, H. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am. J. Hum. Genet. 57, 1250–1252 (1995).

  74. 74

    Sherman, S. L., Aston, C. E., Morton, N. E., Speiser, P. W. & New, M. I. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am. J. Hum. Genet. 42, 830–838 (1988).

  75. 75

    Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603–606 (2001).

  76. 76

    Oddoux, C. et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14, 188–190 (1996).

  77. 77

    Laken, S. J. et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet. 17, 79–83 (1997).

  78. 78

    Anderson, S. L. et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am. J. Hum. Genet. 68, 753–758 (2001).

  79. 79

    Slaugenhaupt, S. A. et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Genet. 68, 598–605 (2001).

  80. 80

    Nestorowicz, A. et al. Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5, 1813–1822 (1996).

  81. 81

    Verlander, P. C. et al. Carrier frequency of the IVS4+4 A→T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86, 4034–4038 (1995).

  82. 82

    Parvari, R. et al. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am. J. Med. Genet. 72, 286–290 (1997).

  83. 83

    Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9, 152–159 (1995).

  84. 84

    Shaag, A. et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am. J. Med. Genet. 82, 177–182 (1999).

  85. 85

    Bargal, R. et al. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum. Mutat. 17, 397–402 (2001).

  86. 86

    Schuchman, E. H. & Miranda, S. R. Niemann–Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet. Test. 1, 13–19 (1997).

  87. 87

    Bach, G., Tomczak, J., Risch, N. & Ekstein, J. Tay–Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. Am. J. Med. Genet. 99, 70–75 (2001).

  88. 88

    Zlotogora, J., Gieselman, V., von Figura, K., Zeigler, M. & Bach, G. Late infantile metachromatic leukodystrophy in Israel. Biomed. Pharmacother. 48, 347–350 (1994).

  89. 89

    Bjorses, P. et al. Genetic homogeneity of autoimmune polyglandular disease type I. Am. J. Hum. Genet. 59, 879–886 (1996).

  90. 90

    Rosler, A. & White, P. C. Mutations in human 11 β-hydroxylase genes: 11 β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. J. Steroid Biochem. Mol. Biol. 45, 99–106 (1993).

  91. 91

    Menold, M. M. et al. Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. Hum. Hered. 48, 325–332 (1998).

  92. 92

    Mitrani-Rosenbaum, S., Argov, Z., Blumenfeld, A., Seidman, C. E. & Seidman, J. G. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum. Mol. Genet. 5, 159–163 (1996).

  93. 93

    Rosenberg, N. et al. Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (β3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. Blood 89, 3654–3662 (1997).

  94. 94

    Feliubadalo, L. et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium. Nature Genet. 23, 52–57 (1999).

  95. 95

    Leitersdorf, E. et al. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J. Clin. Invest. 91, 2488–2496 (1993).

  96. 96

    Halle, D. et al. High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry. Am. J. Med. Genet. 99, 325–327 (2001).

  97. 97

    Parvari, R. et al. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur. J. Hum. Genet. 5, 266–270 (1997).

  98. 98

    Kaufman, M. et al. Tay–Sachs disease and HEXA mutations among Moroccan Jews. Hum. Mutat. 10, 295–300 (1997).

  99. 99

    McNally, E. M. et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am. J. Med. Genet. 91, 305–312 (2000).

  100. 100

    Avigad, S. et al. A single origin of phenylketonuria in Yemenite Jews. Nature 344, 168–170 (1990).

Download references


I thank J. and S. Rudin for their support, L. Schiffman, N. Risch, C. Oddoux, S. Gross and two anonymous reviewers for their helpful comments.

Author information


  1. Human Genetics Program, New York University School of Medicine, 550 First Avenue, MSB 136, New York, 10016, New York, USA

    • Harry Ostrer


  1. Search for Harry Ostrer in:

Related links



Inter-population gene flow.


The joining of genetic lineages to common ancestors when they are traced backwards in time.


(C.E.). A neutral term for the period of time since the birth of Christ.


Mating or marriage within a social or cultural unit.


Random changes in allele frequency that result because the genes appearing in offspring are not a perfectly representative sample of the parental genes (for example, in small populations).


The movement of alleles between local populations owing to the migration of individuals.


A set of genetic markers present on one chromosome.


Protein present on the surface of white cells and most other cells in the body that allows the immune system to recognize self from non-self.


(LD). The condition in which the frequency of a particular haplotype for two loci is significantly greater than that expected from the product of the observed allelic frequencies at each locus.


A class of repetitive DNA that is made up of repeats that are 2–8 nucleotides in length. They can be highly polymorphic and are frequently used as molecular markers in population genetics studies.


The proportion of genotypically mutant organisms that show the mutant phenotype. If all genotypically mutant individuals show the mutant phenotype, then the genotype is said to be completely penetrant.


The study of the conformation of the skull on the basis of the belief that it is indicative of mental faculties and character.

About this article

Publication history

Issue Date


Further reading