埃默里-德赖富斯肌营养不良症基因定位于X染色体长臂远端。
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.
作者信息
Thomas N S, Williams H, Elsas L J, Hopkins L C, Sarfarazi M, Harper P S
出版信息
J Med Genet. 1986 Dec;23(6):596-8. doi: 10.1136/jmg.23.6.596.
The linkage relationships of the gene for Emery-Dreifuss muscular dystrophy have been analysed in a large American kindred using DNA probes from different regions of the X chromosome. Close linkage was found with the locus for factor VIII, with no recombinants in 12 opportunities (maximum lod score 4.3), and with locus DXS15 (two recombinants in 17 opportunities, maximum lod score 2.9 at 0 = 10 cM). No linkage was found with probes pERT87 and 754, which are closely linked to Duchenne and Becker muscular dystrophies at Xp21. These results confirm a separate localisation on the distal part of the long arm at q27-28 for Emery-Dreifuss muscular dystrophy and should provide the basis for prenatal diagnosis and improved carrier detection in this disorder if the linkage is confirmed to be close.
利用来自X染色体不同区域的DNA探针，对一个大型美国家族中埃默里 - 德赖富斯肌营养不良症基因的连锁关系进行了分析。发现该基因与凝血因子VIII基因座紧密连锁，在12次机会中无重组体（最大连锁值分数为4.3），与DXS15基因座也紧密连锁（17次机会中有两次重组体，在重组率为10厘摩时最大连锁值分数为2.9）。未发现与pERT87和754探针连锁，这两个探针在Xp21与杜兴氏和贝克氏肌营养不良症紧密连锁。这些结果证实埃默里 - 德赖富斯肌营养不良症在长臂远端q27 - 28有一个单独的定位，如果这种连锁被证实紧密，应为该疾病的产前诊断和改进携带者检测提供依据。
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