caa a22 4500 39757522X CHVBK 20180308164853.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.2033 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.2033 Ataxia-Telangiectasia: Founder Effect Among North African Jews [Elektronische Daten] [Shlomit Gilad, Anat Bar-Shira, Reli Harnik, Dganit Shkedy, Yael Ziv, Rami Khosravi, Kevin Brown, Lina Vanagaite, Gang Xu, Moshe Frydman, Martin F. Lavin, David Hill, Danilo A. Tagle, Yosef Shiloh] The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, were identified in various ethnic groups, precluding carrier screening with mutation-specific assays. However, a single mutation was observed in 32/33 defective ATM alleles in Jewish A-T families of North African origin, coming from various regions of Morocco and Tunisia. This mutation, 103C→T, results in a stop codon at position 35 of the ATM protein. In keeping with the nature of this mutation, various antibodies directed against the ATM protein failed to detect this protein in patient cells. A rapid carrier detection assay detected this mutation in three out of 488 ATM alleles of Jewish Moroccan or Tunisian origin. This founder effect provides a unique opportunity for population-based screening for A-T carriers in a large Jewish community. © 1993 Oxford University Press Gilad Shlomit Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Bar-Shira Anat Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Harnik Reli Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Shkedy Dganit Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Ziv Yael Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Khosravi Rami Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Brown Kevin National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut Vanagaite Lina Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Xu Gang Oncogene Research Products, Cambridge, MA 02142, USA aut Frydman Moshe Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel, OH 44106-4955, USA aut Lavin Martin F. Queensland Institute of Medical Research, Herston, Queensland 4006, Australia aut Hill David National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut Tagle Danilo A. National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut Shiloh Yosef Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 2033-2037 0964-6906 5:12<2033 1996 5 hmg https://doi.org/10.1093/hmg/5.12.2033 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.2033 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gilad Shlomit Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Bar-Shira Anat Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Harnik Reli Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Shkedy Dganit Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Ziv Yael Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Khosravi Rami Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Brown Kevin National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut NATIONALLICENCE 700 1- Vanagaite Lina Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 700 1- Xu Gang Oncogene Research Products, Cambridge, MA 02142, USA aut NATIONALLICENCE 700 1- Frydman Moshe Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel, OH 44106-4955, USA aut NATIONALLICENCE 700 1- Lavin Martin F. Queensland Institute of Medical Research, Herston, Queensland 4006, Australia aut NATIONALLICENCE 700 1- Hill David National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut NATIONALLICENCE 700 1- Tagle Danilo A. National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA aut NATIONALLICENCE 700 1- Shiloh Yosef Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 2033-2037 0964-6906 5:12<2033 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford