分离出一个随机黏粒克隆cX5，它定义了一个位于杜兴氏肌营养不良症基因座附近的新的多态性基因座DXS148。
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
作者信息
Hofker M H, Bergen A A, Skraastad M I, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen G J, Pearson P L
出版信息
Hum Genet. 1986 Nov;74(3):275-9. doi: 10.1007/BF00282548.
We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy.
我们分离出了一个随机黏粒cX5（DXS148），它定位于与杜氏肌营养不良症（DMD）、慢性肉芽肿病（CGD）、色素性视网膜炎（RP）和麦克劳德综合征相关的一个小的Xp21缺失区域。cX5定位于其他几个与DMD、甘油激酶缺乏症（GK）和肾上腺发育不全（AHC）相关的缺失区域近端外侧。提出了以下基因座顺序：着丝粒-鸟氨酸转氨甲酰酶-cX5（DXS148）-754（DXS84）-PERT87（DXS164）/DMD-端粒。从这个黏粒中分离出的一个亚克隆cX5.7识别出一种MspI限制性片段长度多态性（RFLP），其次要等位基因频率为35%。该探针是杜氏肌营养不良症家族研究中现有RFLP的重要辅助手段。
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