与1型神经纤维瘤病相关的90千碱基DNA缺失。
A 90 kb DNA deletion associated with neurofibromatosis type 1.
作者信息
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw D J, Huson S, Wallace M R, Andersen L B, Marchuk D A, Viskochil D
机构信息
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
出版信息
J Med Genet. 1990 Dec;27(12):738-41. doi: 10.1136/jmg.27.12.738.
A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.
利用脉冲场凝胶电泳技术，在一名1型神经纤维瘤病患者中发现了一段90kb的DNA缺失。该缺失位于17号染色体关键区域的探针17L1A和AC5之间，是脉冲场凝胶电泳在90名无亲缘关系的患者系列中发现的唯一分子改变。表现出该缺失的患者是一个孤立病例，具有典型的临床特征，是该疾病中发现的分子缺失的首批例子之一。
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