title: The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
abstract: The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database ( http://www.goldenhelix.org/server/israeli ). In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as well as data on 195 autosomal recessive diseases among Muslim Israeli Arabs, 11 among the Christian Arabs and 31 among Druze. A single mutation was characterized in 149 out of the 238 rare disorders for which the molecular basis was known. In many diseases, mutation had never been observed in any other population and was present in one family only suggesting that it occurred as a de novo event. In other diseases, the mutation was present in more than one community or even in other populations such as Bedouins from the Arab peninsula or Christians from Lebanon. In the 89 other disorders, more than one mutation 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 such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes.
authors.affiliation: Department of Community Genetics, Public Health Services, Ministry of Health Israel, Building 67, Sheba Medical Center, Tel Hashomer, 52621 Ramat Gan, Israel. joelz@cc.huji.ac.il
authors.forename: Joël
authors.initials: J
authors.lastname: Zlotogora
mesh_terms: D000417:Albinism / Q000235:genetics; D018912:Arabs / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000235:genetics; D020788:Bardet-Biedl Syndrome / Q000235:genetics; D002835:Christianity; D004820:Epidermolysis Bullosa / Q000235:genetics; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007514:Islam; D007557:Israel / Q000453:epidemiology; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000235:genetics; D008375:Maple Syrup Urine Disease / Q000235:genetics; D008059:Mucopolysaccharidosis I / Q000235:genetics; D009154:Mutation; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics