Journal Article

Ataxia-Telangiectasia: Founder Effect Among North African Jews

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 and Yosef Shiloh

in Human Molecular Genetics

Volume 5, issue 12, pages 2033-2037
Published in print December 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.12.2033
Ataxia-Telangiectasia: Founder Effect Among North African Jews

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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.

Journal Article.  3955 words.  Illustrated.

Subjects: Genetics and Genomics

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