埃默里-德赖富斯肌营养不良症的连锁研究。
A linkage study of Emery-Dreifuss muscular dystrophy.
作者信息
Hodgson S, Boswinkel E, Cole C, Walker A, Dubowitz V, Granata C, Merlini L, Bobrow M
出版信息
Hum Genet. 1986 Dec;74(4):409-16. doi: 10.1007/BF00280495.
We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity.
我们已在X染色体上由DNA标记所定义的多态性位点与X连锁的埃默里 - 德赖富斯肌营养不良症（EDMD）之间寻找连锁关系。EDMD与已知与贝克型和杜兴型肌营养不良症连锁的Xp位点之间存在高重组率。有迹象表明，EDMD与分别由探针St14和DX13所定义、位于Xq28的DXS52和DXS15位点之间存在连锁关系。在θ = 0.15时，DXS15的Z值为1.14。这与先前报道的一种与EDMD极为相似的疾病和色盲之间的连锁关系相符（托马斯等人，1972年），表明X染色体上存在第二个与肌肉完整性相关的位点。
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