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NEUROLOGY 1990;40:1438
© 1990 American Academy of Neurology

Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis

Kenneth G. Kupke, MD, Lillian V. Lee, MD and Ulrich Müller, MD, PhD

From the Division of Genetics (Drs. Kupke and Müller) and Joint Program in Neonatology (Dr. Kupke), The Children's Hospital and Department of Pediatrics (Drs. Kupke and Müller), Harvard Medical School, Boston, MA; The Philippine Children's Medical Center (Lungsod Ng Kabataan) (Dr. Lee), Diliman, Quezon City, Republic of the Philippines.

We performed linkage analysis of X-linked torsion dystonia (XLTD) in 7 Filipino families, studying DNA from a total of 36 family members (9 obligate carrier females, and 18 affected and 9 unaffected males). Application of 21 informative X chromosomal DNA sequences allowed assignment of the XLTD locus to the proximal long arm of the X chromosome (Xq21). A maximum LOD score of 3.06 at ±= 0.0 was obtained with DXYS2, previously assigned to Xq21.3.

Address correspondence and reprint requests to Dr. K. Kupke, Genetics Division, The Children's Hospital, 300 Longwood Avenue, Boston, MA 02115.

Supported by a grant from the Dystonia Medical Research Foundatiobt.

Received January 11, 1990. Accepted for publication in final form February 23, 1990.




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