Strong allelic association between the torsion dystonia gene (DYTI) and loci on chromosome 9q34 in Ashkenazi Jews

Laurie J. Ozelius, Patricia L. Kramer, Deborah De Leon, Neil Risch, Susan B. Bressman, Deborah E. Schuback, Mitchell F. Brin, David J. Kwiatkowski, Robert E. Burke, James F. Gusella, Stanley Fahn, Xandra O. Breakefield

114 Scopus citations

Abstract

The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34. Using (GT)n and RFLP markers in this region, we have identified obligate recombination events in some of these Jewish families, which further delineate the area containing the DYT1 gene to a 6-cM region bounded by loci AK1 and ASS. In 52 unrelated, affected Ashkenazi Jewish individuals, we have found highly significant linkage disequilibrium between a particular extended haplotype at the ABL-ASS loci and the DYT1 gene. The 4/A12 haplotype for ABL-ASS is present on 69% of the disease-bearing chromosomes among affected Jewish individuals and on only 1% of control Jewish chromosomes (χ2 = 91.07, P

Original languageEnglish (US)
Pages (from-to)619-628
Number of pages10
JournalAmerican Journal of Human Genetics
Volume50
Issue number3
Publication statusPublished - Mar 1992

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ASJC Scopus subject areas

  • Genetics

Cite this

Ozelius, L. J., Kramer, P. L., De Leon, D., Risch, N., Bressman, S. B., Schuback, D. E., ... Breakefield, X. O. (1992). Strong allelic association between the torsion dystonia gene (DYTI) and loci on chromosome 9q34 in Ashkenazi Jews. American Journal of Human Genetics, 50(3), 619-628.