Medical genetics of Jewish people

The medical genetics of Jewish people is the study, screening and treatment of genetic disorders that are more common in particular Jewish populations than in the population as a whole.^[1] The genetics of Ashkenazi Jews have been particularly well-studied, resulting in the discovery of many genetic disorders that are associated with this ethnic group. In contrast, the medical genetics of Sephardic Jews and Oriental Jews are more complicated, since they are more genetically diverse and there are consequently no genetic disorders that are more common in these groups as a whole; instead they tend to have the genetic diseases that are common in their various countries of origin.^[1][2] Several organizations, such as Dor Yeshorim,^[3] offer screening for Ashkenazi genetic diseases, and these screening programs have had a significant impact, in particular by reducing the number of cases of Tay–Sachs disease.^[4]

Genetics of Jewish populations

Different ethnic groups tend to suffer from different rates of hereditary diseases, with some being more common, and some less common. Hereditary diseases, particularly hemophilia were recognized early in Jewish history, even being described in the Talmud.^[5] However, the scientific study of hereditary disease in Jewish populations was initially hindered by the shadow of the racist and unscientific ideas of eugenics and "racial hygiene", which tried to describe various ethnic groups as inferior.^[6][7]

However, modern studies on the genetics of particular ethnic groups have the tightly-defined purpose of avoiding the birth of children with genetic diseases, or identifying people at particular risk of developing a disease in the future.^[6] Consequently, the Jewish community has been very supportive of modern genetic testing programs, although this unusually high degree of cooperation has raised concerns that it might lead to the false perception that Jews are more susceptible to genetic diseases than other groups of people.^[5]

However, most populations contain hundreds of alleles that could potentially cause disease and most people are heterozygotes for one or two recessive alleles that would be lethal in a homozygote.^[8] Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) is common in some Jewish communities, which produces a small increase in the number of children with congenital defects.^[9]

According to Daphna Birenbaum Carmeli at the University of Haifa, Jewish populations have been studied more thoroughly than most other human populations because:^[10]

• Geneticists are intrinsically interested in Jewish populations as a disproportionate percentage of genetics researchers are Jewish. Israel in particular has become an international center of such research.
• Jewish populations, and particularly the large Ashkenazi Jewish population, are ideal for such research studies, because they exhibit a high degree of endogamy, yet they are sizable.
• Jewish populations are overwhelmingly urban, and are concentrated near biomedical centers where such research has been carried out. Such research is especially easy to carry out in Israel, where cradle-to-grave medical insurance is available, together with universal screening for genetic disease.
• Jewish communities are comparatively well informed about genetics research, and have been supportive of community efforts to study and prevent genetic diseases.
• Participation of Jewish scientists and support from the Jewish community alleviates ethical concerns that sometimes hinder such genetic studies in other ethnic groups.

The result is a form of ascertainment bias. This has sometimes created an impression that Jews are more susceptible to genetic disease than other populations. Carmeli writes, "Jews are over-represented in human genetic literature, particularly in mutation-related contexts."^[10] Another factor that may aid genetic research in this community is that Jewish culture results in excellent medical care, which is coupled to a strong interest in the community's history and demography.^[11]

This set of advantages have led to Ashkenazi Jews in particular being used in many genetic studies, not just in the study of genetic diseases. For example, a series of publications on Ashkenazi centenarians established that their longevity was strongly inherited and associated with lower rates of age-related diseases.^[12] This "healthy aging" phenotype may be due to higher levels of telomerase in these individuals.^[13]

Ashkenazi diseases

Although there is no reason to think that the Ashkenazi Jewish population has any more or fewer mutations than other ethnic groups, this group has been particularly intensively-studied, so many mutations have been identified as common in Ashkenazis.^[14] Of these diseases, many also occur in other Jewish groups and in non-Jewish populations, although the specific mutation which causes the disease may vary between populations. For example, two different mutations in the glucocerebrosidase gene causes Gaucher's disease in Ashkenazis, which is their most common genetic disease, but only one of these mutations is found in non-Jewish groups.^[4] A few diseases are unique to this group: for example familial dysautonomia is almost unknown in other populations.^[4]

Genetic disorders common in Ashkenazi Jews^[1]

Disease	Mode of inheritance	Gene	Carrier frequency
Bloom syndrome	Autosomal recessive	BLM	1/100
Breast cancer and ovarian cancer	Autosomal dominant	BRCA1 or BRCA2	1/100 and 1/75, respectively
Canavan disease	Autosomal recessive	ASPA	1/60
Congenital deafness	Autosomal recessive	GJB2 or GJB6	1/25
Cystic fibrosis	Autosomal recessive	CFTR	1/25
Haemophilia C	Autosomal recessive	F11	1/12
Familial dysautonomia	Autosomal recessive	IKBKAP	1/30
Familial hypercholesterolemia	Autosomal dominant	LDLR	1/69
Familial hyperinsulinism	Autosomal recessive	ABCC8	1/125–1/160
Fanconi anemia C	Autosomal recessive	FACC	1/100
Gaucher disease	Autosomal recessive	GBA	1/7–1/18
Glycogen Storage Disease type 1a	Autosomal recessive	G6PC	1/71
Mucolipidosis IV	Autosomal recessive	MCOLN1	1/110
Niemann–Pick (type A)	Autosomal recessive	SMPD1	1/90
Nonclassical 21 OH deficiency	Autosomal recessive	CPY21	1/6
Parkinson's disease	Autosomal dominant	LRRK2	1/42[15]
Tay–Sachs	Autosomal recessive	HEXA	1/25–1/30
Torsion dystonia	Autosomal dominant	DYT1	1/4000
Usher syndrome	Autosomal recessive	PCDH15	1/72

Tay–Sachs disease

Tay–Sachs disease, a fatal illness of children that causes mental deterioration prior to death, was historically more prevalent among Ashkenazi Jews,^[16] although high levels of the disease are also found in some Pennsylvania Dutch, Southern Louisiana Cajun and Eastern Quebec French Canadian populations.^[17] Since the 1970s, however, proactive genetic testing has been quite effective in eliminating Tay–Sachs from the Ashkenazi Jewish population.^[18]

Lipid transport diseases

Gaucher's disease, in which lipids accumulate in inappropriate locations, occurs most frequently among Ashkenazi Jews;^[19] the disease is carried by roughly 1 in every 15 Ashkenazi Jews, compared to 1 in 100 of the general American population.^[20] Gaucher's disease can cause brain damage and seizures, but these effects are not usually present in the form manifested among Ashkenazi Jews; nevertheless, sufferers still bruise easily, and it can still potentially rupture the spleen, although it generally has only a minor impact on life expectancy.

Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of lipid storage disorders. They more frequently act as carriers of mucolipidosis, than do other ethnic groups.^[21] and Niemann–Pick disease, which can prove fatal.^[22] The occurrence of several lysosomal storage disorders in the same population suggested the idea that the alleles responsible might have conferred some selective advantage in the past.^[23]

This would be similar to the partial immunity to malaria that is conferred by having one copy of the allele that causes sickle-cell disease in people with two copies of the allele (an effect called heterozygote advantage).^[24] It has been proposed that some of these disorders became common in this population due to selection for high levels of intelligence (see ashkenazi intelligence).^[25][26] However, other research suggests that there is no difference between the frequency of this group of diseases and other genetic diseases in Ashkenazis, which is evidence against this hypothesis.^[27]

Familial dysautonomia

Familial dysautonomia (Riley–Day Syndrome), which causes vomiting, speech problems, an inability to cry, and false sensory perception, is almost exclusive to Ashkenazi Jews;^[28] Ashkenazi Jews are almost 100 times more likely to carry the disease than anyone else.^[29]

Other Ashkenazi diseases and disorders

Diseases that are inherited in an autosomal recessive pattern often occur in endogamous populations. Among Ashkenazi Jews, a higher incidence of specific genetic disorders and hereditary diseases have been verified, including:

• Colorectal cancer due to hereditary nonpolyposis colorectal cancer (HNPCC) ^[30]
• Congenital adrenal hyperplasia (non-classical form) ^[31]
• Congenital insensitivity to pain with anhidrosis (CIPA)^[32]
• Crohn's disease (the NOD2/CARD15 locus appears to be implicated) ^[33]
• Kaposi's sarcoma^[34]
• Maple Syrup Urine Disease ^[35]
• Mucolipidosis IV ^[36]
• Nonsyndromic hearing loss and deafness, DFNB1 (Connexin 26) ^[37]
• Parkinson's disease (G2019S/LRRK2 mutation).^[38] According to the most extensive and thorough study by Lesage et al. in 2010, estimations indicated that the LRRK2 mutation on the main haplotype, shared by Ashkenazi Jews, North-Africans and Europeans, initially arose in the Near East at least 4000 years ago. According to the authors, because of a founder effect, the ancestors of present-day Ashkenazi Jews may have kept the low-frequency G2019S mutation through the different diasporas, whereas Near Eastern daughter populations lost the mutation. The mutation might then have been "reintroduced by recurrent gene flow from Ashkenazi populations to other Jewish, European and North-African populations. The present-day frequency of the mutation in control populations (0.05% in Europeans, 0.5% in North-African Arabs and 1% in Ashkenazi Jews) may support this scenario".^[39]
• Pemphigus vulgaris^[40]
• Von Gierke disease^[41]
• Zellweger syndrome ^[42]
• Parkinson's disease^[43]

Non-Ashkenazi disorders

In contrast to the Ashkenazi population, Sephardic and Oriental Jews are much more divergent groups, with ancestors from Spain, Portugal, Morocco, Tunisia, Algeria, Italy, Libya, the Balkans, Iran, Iraq, India and Yemen, with specific genetic disorders that are found in each regional group, or even in specific sub-populations in these regions.^[1]

Genetic disorders common in Sephardic Jews.^[1]

Disease	Mode of inheritance	Gene	Carrier frequency	Populations
Oculocutaneous albinism	Autosomal recessive	TYR	1/30	Morocco
Ataxia telangiectasia	Autosomal recessive	ATM	1/80	Morocco, Tunisia
Creutzfeldt–Jakob disease	Autosomal dominant	PRNP	1/24,000	Libya
Cerebrotendinous xanthomatosis	Autosomal recessive	CYP27A1	1/70	Morocco
Cystinuria	Autosomal recessive	SLC7A9	1/25	Libya
Familial Mediterranean fever	Autosomal recessive	MEFV	1/5–1/7	Libya, Morocco, Tunisia
Glycogen storage disease III	Autosomal recessive	AGL	1/35	Morocco
Limb girdle muscular dystrophy	Autosomal recessive	DYSF	1/10	Libya
Tay–Sachs	Autosomal recessive	HEXA	1/110	Morocco
11-β-hydroxylase deficiency	Autosomal recessive	CYP11B1	1/30–1/128	Morocco

Genetic disorders common in Oriental Jews.^[1]

Disease	Mode of inheritance	Gene	Carrier frequency	Populations
Beta-thalassemia	Autosomal recessive	HBB	1/6	Iran, Iraq, Kurdistan
Factor VII deficiency	Autosomal recessive	F7	1/40	Iran
Familial Mediterranean fever	Autosomal recessive	MEFV	1/5–1/7	Iraq, Iran, Armenia, North-African Jews, Ashkenazi
Glucose-6-phosphate dehydrogenase deficiency	X-linked	G6PD	1/4	Iraq
Inclusion body myopathy	Autosomal recessive	GNE	1/12	Iran
Metachromatic leukodystrophy	Autosomal recessive	ARSA	1/50	Yemen
Oculopharyngeal muscular dystrophy	Autosomal, recessive or dominant	PABPN1	1/7	Bukhara
Phenylketonuria	Autosomal recessive	PAH	1/35	Yemen

Genetic testing in Jewish populations

One of the first genetic testing programs to identify heterozygote carriers of a genetic disorder was a program aimed at eliminating Tay–Sachs disease. This program began in 1970 and over one million people have now been screened for the mutation.^[44] Identifying carriers and counseling couples on reproductive options have had a large impact on the incidence of the disease, with a decrease from 40–50 per year worldwide to only 4–5 per year.^[4] Screening programs now test for several genetic disorders in Jews, although these focus on the Ashkenazi Jews, since other Jewish groups cannot be given a single set of tests for a common set of disorders.^[2] In the USA, these screening programs have been widely accepted by the Ashkenazi community, and have greatly reduced the frequency of the disorders.^[45]

Prenatal testing for several genetic diseases is offered as commercial panels for Ashkenazi couples by both CIGNA and Quest Diagnostics. The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease and torsion dystonia. The Quest panel is for parental/preconception testing and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Neimann-Pick disease types A & B and Tay-Sachs disease.

The official recommendations of the American College of Obstetricians and Gynecologists is that Ashkenazi individuals be offered screening for Tay Sachs, Canavan, cystic fibrosis and familial dysautonomia as part of routine obstetrical care.^[46]

In the orthodox community an organization called Dor Yeshorim carries out anonymous genetic screening of couples before marriage in order to reduce the risk of children with genetic diseases being born.^[47] The program educates young people on medical genetics and screens school-aged children for any disease genes. These results are then entered into an anonymous database, identified only by a unique ID number that is given to the person who was tested. If two people are considering getting married, they call the organization and tell them their ID numbers. The organization then tells them if they are genetically compatible. It is not divulged if one member is a carrier, so as to protect the carrier and his or her family from stigmatization.^[47] However, this program as been criticized for exerting social pressure on people to be tested, and for screening for a broad range of recessive genes, including disorders such as Gaucher's disease.^[3]

See also

• Jewish medical ethics

Related:

• Population groups in biomedicine
• Ethnicity and health
• Ancestry and health

References

1. ^ ^{a b c d e f} Rosner G, Rosner S, Orr-Urtreger A (2009). "Genetic testing in Israel: an overview". Annu Rev Genomics Hum Genet 10: 175–92. doi:10.1146/annurev.genom.030308.111406. PMID 19453249. 
2. ^ ^{a b} Talia Bloch (August 21, 2009). "Sephardi Jews lack screening programs for their genetic diseases". Haaretz. http://www.haaretz.com/hasen/spages/1109222.html. 
3. ^ ^{a b} Gina Kolata (December 7, 1993). "Nightmare or the Dream Of a New Era in Genetics?". New York Times. http://www.nytimes.com/1993/12/07/health/nightmare-or-the-dream-of-a-new-era-in-genetics.html. 
4. ^ ^{a b c d} Ostrer H (November 2001). "A genetic profile of contemporary Jewish populations". Nat. Rev. Genet. 2 (11): 891–8. doi:10.1038/35098506. PMID 11715044. 
5. ^ ^{a b} Levin M (1999). "Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses". Genet. Test. 3 (2): 207–13. PMID 10464669. 
6. ^ ^{a b} Abel 2001, p. 7
7. ^ Bachrach S (July 2004). "In the name of public health—Nazi racial hygiene". N. Engl. J. Med. 351 (5): 417–20. doi:10.1056/NEJMp048136. PMID 15282346. 
8. ^ Modell B, Darr A (March 2002). "Science and society: genetic counselling and customary consanguineous marriage". Nat. Rev. Genet. 3 (3): 225–9. doi:10.1038/nrg754. PMID 11972160. 
9. ^ Paul DB, Spencer HG (December 2008). ""It's ok, we're not cousins by blood": the cousin marriage controversy in historical perspective". PLoS Biol. 6 (12): 2627–30. doi:10.1371/journal.pbio.0060320. PMC 2605922. PMID 19108607. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2605922. 
10. ^ ^{a b} Carmeli, Daphna Birenbaum (2004). "Prevalence of Jews as subjects in genetic research: Figures, explanation, and potential implications". American Journal of Medical Genetics 130a (1): 76–83. doi:10.1002/ajmg.a.20291. PMID 15368499. 
11. ^ Motulsky AG (February 1995). "Jewish diseases and origins". Nat. Genet. 9 (2): 99–101. doi:10.1038/ng0295-99. PMID 7719352. 
12. ^ Atzmon G, Schechter C, Greiner W, Davidson D, Rennert G, Barzilai N (February 2004). "Clinical phenotype of families with longevity". J Am Geriatr Soc 52 (2): 274–7. doi:10.1111/j.1532-5415.2004.52068.x. PMID 14728640. 
13. ^ Atzmon G, Cho M, Cawthon RM, et al. (November 2009). "Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians". Proc. Natl. Acad. Sci. U.S.A. 107 Suppl 1: 1710–7. doi:10.1073/pnas.0906191106. PMC 2868292. PMID 19915151. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2868292. 
14. ^ Nicholas Wade (March 4, 2003). "Diseases Common in Ashkenazim May Be Random". New York Times. http://www.nytimes.com/2003/03/04/health/genetics/04GENE.html. 
15. ^ Orr-Urtreger A, Shifrin C, Rozovski U, et al. (October 2007). "The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?". Neurology 69 (16): 1595–602. doi:10.1212/01.wnl.0000277637.33328.d8. PMID 17938369. 
16. ^ "Tay–Sachs Disease Information Page". National Institute of Neurological Disorders and Stroke. February 14, 2007. http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm. Retrieved May 25, 2008. 
17. ^ Sutton VR (June 2002). "Tay–Sachs disease screening and counseling families at risk for metabolic disease". Obstet. Gynecol. Clin. North Am. 29 (2): 287–96. doi:10.1016/S0889-8545(01)00002-X. PMID 12108829. 
18. ^ Buckles, Julie (August 20, 2001). "The Success Story of Gene Tests". Genome News Network, J. Craig Venter Institute. http://www.genomenewsnetwork.org/articles/08_01/Tay_Sachs_gene_tests.shtml. Retrieved April 14, 2008. 
19. ^ Diaz GA, Gelb BD, Risch N, et al. (2000). "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations". Am. J. Hum. Genet. 66 (6): 1821–32. doi:10.1086/302946. PMC 1378046. PMID 10777718. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1378046. '
20. ^ "National Gaucher Foundation". http://www.gaucherdisease.org/prevalence.php. Retrieved May 30, 2007. 
21. ^ "Mount Sinai – Center for Jewish Genetic Diseases – Department of Human Genetics". http://www.mssm.edu/jewish_genetics/diseases/mucolipidosis.shtml. 
22. ^ Ashkenazi Disorders: Mendelian – Niemann–Pick disease: from The Chicago Center for Jewish Genetic Disorders
23. ^ Boas FE (August 2000). "Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection". Blood Cells Mol. Dis. 26 (4): 348–59. doi:10.1006/bcmd.2000.0314. PMID 11042036. 
24. ^ Harpending H, Cochran G (March 2006). "Genetic diversity and genetic burden in humans". Infect. Genet. Evol. 6 (2): 154–62. doi:10.1016/j.meegid.2005.04.002. PMID 16246638. 
25. ^ Nicholas Wade (June 3, 2005). "Researchers Say Intelligence and Diseases May Be Linked in Ashkenazic Genes". The New York Times. http://www.nytimes.com/2005/06/03/science/03gene.html. 
26. ^ Cochran G, Hardy J, Harpending H (September 2006). "Natural history of Ashkenazi intelligence". J Biosoc Sci 38 (5): 659–93. doi:10.1017/S0021932005027069. PMID 16867211. http://homepage.mac.com/harpend/.Public/AshkenaziIQ.jbiosocsci.pdf. 
27. ^ Risch N, Tang H, Katzenstein H, Ekstein J (April 2003). "Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection". Am. J. Hum. Genet. 72 (4): 812–22. doi:10.1086/373882. PMC 1180346. PMID 12612865. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180346. 
28. ^ Ashkenazi Disorders: Mendelian – Familial dysautonomia: from The Chicago Center for Jewish Genetic Disorders
29. ^ about 1 in 30 Ashkenazi Jews carry the disease, compared to 1 in 3000 of the general population
30. ^ Ashkenazi Jews and Colorectal Cancer: from The Chicago Center for Jewish Genetic Disorders
31. ^ Ashkenazi Disorders: Mendelian – Non-Classical Adrenal Hyperplasia
32. ^ Shalimar, A.; Sharaf, I.; Farah Wahida, I.; Ruszymah, B. H. (2007). "Congenital insensitivity to pain with anhydrosis in a Malaysian family: A genetic analysis". Journal of Orthopaedic Surgery (Hong Kong) 15 (3): 357–360. PMID 18162686. http://www.josonline.org/pdf/v15i3p357.pdf. "Type III is familial dysautonomia or Riley–Day syndrome. It is multisystemic and affects mainly Ashkenazi Jews." 
33. ^ "Large multicenter study suggests new genetic markers for Crohn's disease: Results shed light on special genetic vulnerabilities of Ashkenazi Jews"
34. ^ Weissmann, A.; Linn, S.; Weltfriend, S.; Friedman-Birnbaum, R. (2000). "Epidemiological study of classic Kaposi's sarcoma: A retrospective review of 125 cases from Northern Israel". Journal of the European Academy of Dermatology and Venereology 14 (2): 91–95. doi:10.1046/j.1468-3083.2000.00022.x. PMID 10972092. 
35. ^ Ashkenazi Jewish Diseases: Tufts Medical Center
36. ^ Ashkenazi Disorders: Mendelian – Mucolipidosis IV: from The Chicago Center for Jewish Genetic Disorders
37. ^ Ashkenazi Disorders: Mendelian – Nonsyndromic Hearing Loss and Deafness, DFNB1 (Connexin 26): from The Chicago Center for Jewish Genetic Disorders
38. ^ Bonifati, V. (2006). "Parkinson's Disease: The LRRK2-G2019S mutation: Opening a novel era in Parkinson's disease genetics". European Journal of Human Genetics 14 (10): 1061–1062. doi:10.1038/sj.ejhg.5201695. PMID 16835587. 
39. ^ Lesage, S.; Patin, E.; Condroyer, C.; Leutenegger, A. L.; Lohmann, E.; Giladi, N.; Bar-Shira, A.; Belarbi, S. et al. (2010). "Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans". Human Molecular Genetics 19 (10): 1998–2004. doi:10.1093/hmg/ddq081. PMID 20197411. 
40. ^ Klein J, Sato A (September 2000). "The HLA system. Second of two parts". The New England Journal of Medicine 343 (11): 782–786. doi:10.1056/NEJM200009143431106. PMID 10984567. 
41. ^ Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)"
42. ^ Ahn, J. K.; Lev, D.; Leshinsky-Silver, E.; Ginzberg, M.; Lerman-Sagie, T. (15 June 2003). "A new autosomal recessive syndrome with Zellweger-like manifestations". American Journal of Medical Genetics 119A (3): 352–355. doi:10.1002/ajmg.a.20124. PMID 12784304. "A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome..." 
43. ^ Zimprich, A.; Biskup, S.; Leitner, P.; Lichtner, P.; Farrer, M.; Lincoln, S.; Kachergus, J.; Hulihan, M. et al. (2004). "Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology". Neuron 44 (4): 601–607. doi:10.1016/j.neuron.2004.11.005. PMID 15541309. "We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8)..." 
44. ^ Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". Eur. J. Pediatr. 159 Suppl 3: S192–5. doi:10.1007/PL00014401. PMID 11216898. 
45. ^ Kronn D, Jansen V, Ostrer H (April 1998). "Carrier screening for cystic fibrosis, Gaucher disease, and Tay–Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY". Arch. Intern. Med. 158 (7): 777–81. doi:10.1001/archinte.158.7.777. PMID 9554684. 
46. ^ ACOG committee on genetics (October 2009). "ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.". Obstet. Gynecol. 114 (4): 950–3. doi:10.1097/AOG.0b013e3181bd12f4. PMID 19888064. 
47. ^ ^{a b} Ekstein J, Katzenstein H (2001). "The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease". Adv. Genet. 44: 297–310. doi:10.1016/S0065-2660(01)44087-9. PMID 11596991. 

Further reading

• Abel, Ernest L. (2001). Jewish genetic disorders: a layman's guide. Jefferson, N.C: McFarland. ISBN 0-7864-0941-X. 
• Goodman, Richard M. (1979). Genetic disorders among the Jewish people. Baltimore: Johns Hopkins University Press. ISBN 0-8018-2120-7. 
• Goldstein, David I. (2009). Jacob's Legacy: A Genetic View of Jewish History. New Haven, Conn: Yale University Press. ISBN 0-300-15128-4. 

External links

• Chicago Center for Jewish Genetic Disorders
• Ashkenazi Jews – The Hebrew University of Jerusalem
• Jewish Diseases Genetic Testing – The Center for Medical Genetics
• Ashkenazi Jewish Genetic Diseases – Victor Center for Jewish Genetic Diseases
• Ashkenazi Jewish Diseases – Tufts Medical Center
• Jewish Genetic Disease Consortium
• Center for Jewish Genetic Diseases – Mount Sinai Medical Center
• Mendelian disorders among Jews – Israeli National Genetic Database
• Studies Show Jews’ Genetic Similarity by The New York Times