Nature Genetics
4, 160 - 164 (1993)
doi:10.1038/ng0693-160
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosisAnat Blumenfeld1, 2, 3, Susan A. Slaugenhaupt1, 2, 3, Felicia B. Axelrod4, Diane E. Lucente1, Channa Maayan5, Christopher B. Liebert1, Laurie J. Ozelius1, 2, James A. Trofatter1, 2, 3, Jonathan L. Haines1, 3, Xandra O. Breakefield1, 6
& James F. Gusella1, 2
1Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital, Boston, Massachusetts 02129, USA
2Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
3Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA
4Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
5Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel
6Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115, USA Correspondence should be addressed to J.F.G. Familial dysautonomia (DYS), the Riley−Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and autonomic nervous system. It is limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. We have mapped the DYS gene to chromosome 9q31−q33 by linkage with ten DMA markers in 26 families. The maximum lod score of 21.1 with no recombinants was achieved with D9S58. This marker also showed strong linkage disequilibrium with DYS, with one allele present on 73% of affected chromosomes compared to 5.4% of controls ( =3142, 15 d.f. p<0.0001). D9S53 and D9S105 represent the closest flanking markers for the disease gene. This localization will permit prenatal diagnosis of DYS in affected families and aid the isolation of the disease gene.
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