Genetic screening in the Persian Jewish community: A pilot study

Genetics in Medicine

Volumn 12, Issue 10, 2010, Pages 628-633

  Kaback, Michael ^a,b   Lopatequi, Jean ^a   Portuges, Amin Riley ^a   Quindipan, Cathy ^a   Pariani, Mitchel ^a   Salimpour Davidov, Nilou ^a   Rimoin, David L ^a,c  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NONE   (United States)

Author keywords

autoimmune polyendocrinopathy; community outreach; congenital hypoaldosteronism; genetic screening; hereditary inclusion body myopathy; Persian Jews; prevention; pseudocholinesterase deficiency

Indexed keywords

CHOLINESTERASE; DNA;

ADULT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY; AUTOSOMAL RECESSIVE DISORDER; COMMUNITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HYPOALDOSTERONISM; IRAN; JEW; MAJOR CLINICAL STUDY; MALE; MYOPATHY; PILOT STUDY;

CHOLINESTERASES; CONSANGUINITY; DRUG HYPERSENSITIVITY; ETHNIC GROUPS; GENE FREQUENCY; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; HYPOALDOSTERONISM; IRAN; JEWS; LOS ANGELES; MUTATION; MYOSITIS, INCLUSION BODY; POINT MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; PRENATAL DIAGNOSIS; RISK ASSESSMENT; UNITED STATES;

EID: 77958598460     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181edef5b     Document Type: Article

References (27)

1. Emery AE, Rimoin DL. Emery and Rimoin's principles and practice of medical genetics, 5th ed. New York, NY: Churchill Livingstone, 2006.
2. Goodman RM, Genetic disorders among the Jewish People. Baltimore, MD: Johns Hopkins University Press, 1979.
3. Oster H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891-898.
4. Zlotogora J. Mendelian disorders among Jews. Jerusalem, Israel: Haddasah University Press, 1999.
5. Zlotogora J. Hereditary disorders among Iranian Jews. Am J Med Genet 1995;58:32-37.
6. Kaback MM. Population-based genetic screening for reproductive counseling; the Tay-Sachs disease model. Eur J Pediatr 2000;159:192-195.
7. Kaback MM, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease\-carrier screening, prenatal diagnosis and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993;270:2307-2315.
8. Weinreg NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113:112-119.
9. Kaback MM, Zeiger RS. Heterozygote detection in Tay-Sachs disease: a prototype community screening program for the prevention of recessive genetic disorders. In: Volk BW, Aronson SM, editors. Advances in experimental medicine and biology. New York, NY: Plenum Press, 1972.
10. Aronson S. Epidemiology. In: Volk BW, editor. Tay-Sachs disease. New York, NY: Grune & Stratton, 1964.
11. Cao A, Galanello R. Beta-thalassemia. Genet Med 2010;12:61-67.
12. McBrewster J, Miller, FP, Vandome AF. Persian Jews: history of Jews in Iran. Mauritius: Alphascript Publishing
13. Zohar Z. Sephardic and Mizrahi Jewry: from the Golden Age of Spain to Modern Times. New York, NY: NYU Press, 2005.
14. Israeli Ministry of Health's Golden Helix database. Available at: http:// www.health.gov.il/Download/pages/tablejews012010.pdf. Accessed May 1, 2010.
15. Zlotogora JV, Bach G, Munnich A. Molecular basis of Mendelian disorders among Jews. Mol Genet Metab 2000;69:169-180.
16. Zlotogora J, van Baal S, Patrinos GP. Documentation on inherited disorders and mutation frequency in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat 2001;28:944-949.
17. Szeinberg A, Pipano S, Assa M, Medalie J, Neufeld H. High frequency of atypical pseudocholinesterase gene among Iraqui and Iranian Jews. Clin Genet 1972;3:123-127.
18. Neville L, Gnatt A, Padan R, Seidman S, Soreq H. Anionic site interactions in human butyrylcholinesterase disrupted by two adjacent single point mutations. J Biol Chem 1990;265:20735-20738.
19. Alexander D. Pseudocholinesterase deficiency. eMedicine. 2009. Available at: http://emedicine.medscape.com/article/247019-overview. Accessed March 12, 2010.
20. Cohen T, Rosler T. Selective hypoaldosteronism in Iranian Jews: an auto-somal recessive trait. Clin Genet 1977;11:25-30.
21. Pascoe L, Curnow K, Slutsker L, Rosler A, White P. Mutations in the human CYP11B2 (aldosterone synthetase) gene causing corticosterone methyloxy-dase II deficiency. Proc Natl Acad Sci \USA 1992;89:4996-5000.
22. Zlotogora J, Shapiro M. Polyglandular autoimmune syndrome in Iranian Jews. J Med Genet 1992;29:834-836.
23. Bjorses P, Aaltonen J, Vikman A, et al. Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet 1996;59:879-886.
24. Argov Z, Yaron R. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
25. Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman C, Seidman J. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996;5:159-163.
26. Riley-Portuges CA, Lopategui JR, Kaback MM, Rimoin DL. Development of a Rapid Genetic Screening Panel for the Southern Californian Persian Jewish Community. Proceedings of Annual Meeting American Society of Human Genetics 2009.
27. Zlotogora J, van Baal S, Patrinos GP. The Israeli National Genetic Database. Isr Med Assoc J 2009;11:373-375.