Hoffmeyer S, Assum G, Kaufmann D, Schwenk K, Krone W
Abteilung Humangenetik, Universität Ulm, Germany.
Hum Genet. 1994 Jul;94(1):97-100. doi: 10.1007/BF02272852.
A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA. Genomic Southern blots revealed a larger deletion with breakpoints within the introns flanking exon 3. This mutation suggests that the amino-terminal region of neurofibromin is functionally significant. When using this mutation to distinguish the wild type and mutant alleles, their expression could be analysed in neurofibroma fibroblasts, melanocytes from the unaffected skin, and those from a café-au-lait macule. In all these cell types, the products of both alleles were detected, confirming similar results obtained with a different NF1 gene mutation.
当通过逆转录和随后的多重聚合酶链反应分析15例1型神经纤维瘤病（NF1）患者各种细胞类型的RNA制剂时，发现了一种新的突变，这是第一个靠近NF1基因5'-末端的突变。该突变从cDNA中精确去除了外显子3的84 bp。基因组Southern印迹显示在外显子3侧翼的内含子内有更大的缺失，断点位于此处。这种突变表明神经纤维瘤蛋白的氨基末端区域具有功能意义。当使用这种突变来区分野生型和突变等位基因时，可以在神经纤维瘤成纤维细胞、未受影响皮肤的黑素细胞以及咖啡牛奶斑的黑素细胞中分析它们的表达。在所有这些细胞类型中，均检测到了两个等位基因的产物，这证实了使用不同的NF1基因突变所获得的类似结果。
