Stark M, Assum G, Krone W
Abteilung Humangenetik, Universität Ulm, Germany.
Hum Genet. 1995 Nov;96(5):619-23. doi: 10.1007/BF00197423.
It is commonly held that Schwann cells (SC) are the progenitor cells of benign neurofibromas. To test for loss of heterozygosity (LOH) at the neurofibromatosis 1 (NF1) gene locus, three intragenic polymorphic markers were analyzed after polymerase chain reaction amplification, starting from 98 single SC isolated from primary cultures of neurofibromas, of five informative NF1 patients. The patterns obtained did not provide evidence for LOH at the NF1 gene. LOH by nondisjunction, large deletions, or somatic recombination in SC seems not to be the mechanism of generation of neurofibromas.
人们普遍认为施万细胞（SC）是良性神经纤维瘤的祖细胞。为了检测1型神经纤维瘤病（NF1）基因座的杂合性缺失（LOH），从5例信息丰富的NF1患者的神经纤维瘤原代培养物中分离出98个单个施万细胞，经聚合酶链反应扩增后，分析了3个基因内多态性标记。所获得的模式并未提供NF1基因杂合性缺失的证据。施万细胞中因不分离、大片段缺失或体细胞重组导致的杂合性缺失似乎不是神经纤维瘤产生的机制。
