杜兴氏和贝克氏肌营养不良症家族中位于Xp21.2 - Xp21.3的一个标记的分离分析。
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.
作者信息
Dorkins H, Junien C, Mandel J L, Wrogemann K, Moison J P, Martinez M, Old J M, Bundey S, Schwartz M, Carpenter N
出版信息
Hum Genet. 1985;71(2):103-7. doi: 10.1007/BF00283362.
A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD families four crossovers were observed in 38 informative meioses between C7 and the DMD locus (theta = 0.12, z max = +2.72). In BMD families no recombinants were observed in the 16 informative meioses studied. These data are consistent with the localisation of the mutations in these disorders being in the same region of Xp21. Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as X centromere-754-DMD-BMD-C7-X telomere. A recombination fraction of 0.11 (z max = +5.58) was found between DMD-754 by combining our previously published data with the data presented here. C7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD.
一种定位在Xp21.1 - Xp21.3的DNA标记C7，已在杜兴氏肌营养不良症（DMD）和贝克氏肌营养不良症（BMD）的家系中进行了研究。在DMD家系中，在C7与DMD基因座之间的38次信息性减数分裂中观察到4次交换（θ = 0.12，z最大值 = +2.72）。在BMD家系中，在所研究的16次信息性减数分裂中未观察到重组体。这些数据与这些疾病中突变定位在Xp21的同一区域一致。对也分离DNA标记754的家系进行的研究支持了先前报道的这些基因座的物理顺序，即X着丝粒 - 754 - DMD - BMD - C7 - X端粒。通过将我们先前发表的数据与此处呈现的数据相结合，发现DMD - 754之间的重组率为0.11（z最大值 = +5.58）。因此，C7和754为DMD和BMD的诊断提供了良好的桥梁标记。
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