胫骨假关节中NF1的双失活
Double inactivation of NF1 in tibial pseudarthrosis.
作者信息
Stevenson David A, Zhou Holly, Ashrafi Shadi, Messiaen Ludwine M, Carey John C, D'Astous Jacques L, Santora Stephen D, Viskochil David H
机构信息
Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA.
出版信息
Am J Hum Genet. 2006 Jul;79(1):143-8. doi: 10.1086/504441. Epub 2006 May 10.
Abstract
Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typical immunohistochemical features of neurofibroma were not observed. Genotype analysis of PA tissue with use of four genetic markers (D17S1863, GXALU, IN38, and 3NF1-1) spanning the NF1 locus demonstrated loss of heterozygosity. These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1.
摘要
骨异常，包括伴有假关节（PA）的长骨发育异常，与1型神经纤维瘤病（NF1）相关。前瞻性获取的来自两名NF1患者PA部位的组织用于NF1基因座的免疫组织化学特征分析和基因分型。未观察到神经纤维瘤的典型免疫组织化学特征。使用跨越NF1基因座的四个遗传标记（D17S1863、GXALU、IN38和3NF1-1）对PA组织进行基因分型，结果显示杂合性缺失。这些结果首次证明PA组织中NF1发生双失活，并提示神经纤维瘤蛋白-Ras信号转导通路参与了NF1中的这种骨发育异常。
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