Abstract
The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze. Data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database. Among the Israeli Arabs in December 31 2018, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria or congenital adrenal hyperplasia as well as data on 632 autosomal recessive diseases among Muslim Israeli Arabs, 52 among the Christian Arabs and 79 among Druze. A single variant was characterized in 590 out of the 771 genes causing disorders in which the molecular basis was known. Many of the variants reported among Arabs in Israel are novels, most being found in one community only. Some variants are ancient and for instance, consistent with the migration history, several variants are found in the Bedouins from the Negev as well as from the Arab peninsula. In the 181 other disorders more than one variant was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases the reason may be a selective advantage to the heterozygotes.
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References
Davidson WS, Fan Y, Parfrey PS, Dicks E, Moore SJ, Green JS (2003) Progress in obesity research: 9. Montrouge: John Libby Eurotext Ltd;. Genetics of Bardet-Biedl syndrome: Obesity and the Newfoundland population; pp 324–327
Heinisch U, Zlotogora J, Kafert S, Gieselmann V (1995) Multiple variants are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56:51–57
Na’amnih W, Romano-Zelekha O, Kabaha A, Rubin LP, Bilenko N, Jaber L, Honovich M, Shohat T (2014) Prevalence of consanguineous marriages and associated factors among Israeli Bedouins. J Community Genet 5:395–398
Na’amnih W, Romano-Zelekha O, Kabaha A, Rubin LP, Bilenko N, Jaber L, Honovich M, Shohat T (2015) Continuous decrease of consanguineous marriages among Arabs in Israel. Am J Hum Biol 27:94–98
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27–40
Risch N, Tang H, Katzenstein H, Ekstein J (2003) Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet 72:812–822
Sharkia R, Mahajnah M, Athamny E, Khatib M, Sheikh-Muhammad A, Zalan A (2016) Changes in marriage patterns among the Arab community in Israel over a 60 years period. J Biosoc Sci 48:283–287
Vardi-Saliternik R, Friedlander Y, Cohen T (2002) Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze. Ann Hum Biol 29:422–431
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El-Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS (2019) SCAPER localizes to primary cilia and its variant affects cilia length, causing Bardet-Biedl syndrome. Eur J Hum Genet 27:928–940
Zlotogora J (2010) The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. Hum Genet 128:473–479
Zlotogora J, Patrinos GP (2017) The Israeli National Genetic database: a 10-year experience. Hum Genomics 11:5
Zlotogora J, Hujerat Y, Barges S, Shalev SA, Chakravarti A (2007) The fate of 12 recessive variants in a single village. Ann Hum Genet 71:202–208
Zlotogora J, Carmi R, Lev B, Shalev SA (2009) A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet 17:591–597
Zlotogora J, Grotto I, Kaliner E, Gamzu R (2016) The Israeli national population program of genetic carrier screening for reproductive purposes. Genet Med 18:203–206
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Zlotogora, J. Autosomal recessive diseases among the Israeli Arabs. Hum Genet 138, 1117–1122 (2019). https://doi.org/10.1007/s00439-019-02043-3
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DOI: https://doi.org/10.1007/s00439-019-02043-3