Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.
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Emery-Dreifuss 肌营养不良：通过与因子 VIII 基因的连锁证实定位于 Xq27.3----qter。
DOI：
10.1136/jmg.23.6.587
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发表时间：
1986
影响因子：
4
通讯作者：
K. Kelly
中科院分区：
文献类型：
--
作者：
J. Yates;N. Affara;D. Jamieson;M. Ferguson;I. Hausmanowa;J. Zaremba;J. Borkowska;A. Johnston;K. Kelly
应用Xq27.3-qter的DNA标记对Emery-Dreifuss型肌营养不良症（EMD）的两个家系进行了研究。在提供因子VIII基因（F8 C）信息的11期已知减数分裂和提供DXS 15（DX 13）信息的8期已知减数分裂中未观察到重组，在重组分数为0时，最大lod评分分别为3.50和2.50。DXS 52（St 14）在12期已知减数分裂中显示了一个重组体，在重组分数为0.07时给出了2.62的最大lod评分。这些结果将EMD映射到X染色体长臂的远端，是开发携带者检测和产前诊断测试的重要一步。
Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the factor VIII gene (F8C) and eight phase known meioses informative for DXS15 (DX13), giving maximum lod scores of 3.50 and 2.50 respectively at a recombination fraction of zero. DXS52 (St14) showed one recombinant in 12 phase known meioses giving a maximum lod score of 2.62 at a recombination fraction of 0.07. These results map EMD to the distal end of the long arm of the X chromosome and are an important step in the development of tests for carrier detection and prenatal diagnosis.