Davies K E, Speer A, Herrmann F, Spiegler A W, McGlade S, Hofker M H, Briand P, Hanke R, Schwartz M, Steinbicker V
Nucleic Acids Res. 1985 May 24;13(10):3419-26. doi: 10.1093/nar/13.10.3419.
Two DNA markers, a random DNA fragment 754 and the cDNA sequence encoding the gene for ornithine transcarbamylase (OTC) have been studied in kindreds segregating for Duchenne muscular dystrophy. 754 and OTC are located close physically to the mutation in the region Xp21 below the breakpoints in two Duchenne females. The genetic distance was found to be approximately 10cM between 754 and DMD (two crossovers in 26 meioses) and to be approximately 10cM between OTC and DMD (two crossovers in 26 meioses). Physical data suggest the order DMD-754-OTC. The frequency of recombination compared to physical distance between these markers and DMD suggests that there may be a hot spot of recombination. The relevance of these observations for the isolation of the DMD mutation and clinical use of these probes is discussed.
在杜兴氏肌营养不良症家系中，对两个DNA标记物进行了研究，一个是随机DNA片段754，另一个是编码鸟氨酸转氨甲酰酶（OTC）基因的cDNA序列。在两名杜兴氏女性患者中，754和OTC在物理位置上紧邻Xp21区域中位于断点下方的突变。发现754与杜兴氏肌营养不良症（DMD）之间的遗传距离约为10厘摩（在26次减数分裂中有两次交换），OTC与DMD之间的遗传距离也约为10厘摩（在26次减数分裂中有两次交换）。物理数据表明顺序为DMD - 754 - OTC。与这些标记物和DMD之间的物理距离相比，重组频率表明可能存在一个重组热点。讨论了这些观察结果对于分离DMD突变以及这些探针临床应用的相关性。
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