通过连锁分析将X连锁扭转性肌张力障碍基因定位于Xq21。
Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis.
作者信息
Kupke K G, Lee L V, Müller U
机构信息
Division of Genetics, Children's Hospital, Boston, MA 02115.
出版信息
Neurology. 1990 Sep;40(9):1438-42. doi: 10.1212/wnl.40.9.1438.
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.
我们对7个菲律宾家庭的X连锁扭转性肌张力障碍（XLTD）进行了连锁分析，研究了总共36名家庭成员的DNA（9名肯定携带者女性，以及18名患病男性和9名未患病男性）。应用21个信息丰富的X染色体DNA序列，将XLTD基因座定位于X染色体长臂近端（Xq21）。使用先前定位于Xq21.3的DXYS2，在θ = 0.0时获得了最大LOD分数3.06。
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