Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis.
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 [symbol: see text] = 0.0 was obtained with DXYS2, previously assigned to Xq21.3.
Kupke
K G
KG
Division of Genetics, Children's Hospital, Boston, MA 02115.
Lee
L V
LV
Müller
U
U
D000328:Adult; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA