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采用低叶酸的培养条件，对２０例神经纤维瘤病患者及正常人的外周血淋巴细胞染色体畸变及脆性部位进行研究。结果发现①神经纤维瘤病患者平均细胞畸变率为１５．９０％，对照组为２．４５％；实验组脆性部位检出率１４．５％，对照组为２． ４０％。实验组的平均细胞畸变率和脆性部位检出率均高于对照组，差异有高度显著性（ Ｐ ＜０．００５）。②实验组检出７３个脆性部位，有４０个与肿瘤相关断裂点对位；２１个脆性部位与癌基因位点一致；１７个位点上脆性部位、肿瘤相关断裂点及癌基因位点三者是一致的。以上结果提示脆性部位在神经纤维瘤病发病过程中可能起着重要的作用。
Using low folate culture conditions, chromosome aberrations and brittle parts of peripheral blood lymphocytes in 20 patients with neurofibromatosis and normal persons were studied. The results showed that ① the average cell aberration rate of neurofibromatosis was 15.90% in the control group and 2.45% in the control group; 14.5% in the experimental group and 2 in the control group. 40%. The average cell aberration rate and the detection rate of fragile parts in the experimental group were higher than those in the control group, the difference was highly significant (P <0.005). ② The experimental group detected 73 fragile sites, 40 of which were aligned with the tumor-related breakpoints; 21 of the fragile sites were consistent with the oncogene loci; 17 of the fragile sites, tumor-associated breakpoints and oncogene sites The same is true. The above results suggest that the fragile parts may play an important role in the pathogenesis of neurofibromatosis.