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目的应用微卫星多态标志研究神经纤维瘤病 2型 (NF2)患者的皮肤神经鞘瘤中 NF2基因丢失情况，以明确其肿瘤的发生机制及 NF2肿瘤抑制基因的特点，为 NF2患者的症状前基因诊断提供依据。方法收集 NF2患者的皮肤肿瘤组织及外周血，提取 DNA，应用微卫星多态标志进行基因型分析。结果 43例皮肤神经鞘瘤在微卫星多态标志 CRYB2， D22S193， NF2CA1， NF2CA3， D22S268， D22S430上显示杂合性丢失的例数分别为 18， 14， 0， 13， 16， 12例。结论建立了在 NF2基因内部及两翼的与 NF2基因紧密连锁的多个微卫星多态标志的杂合性丢失探知 NF2等位基因丢失的方法，再次证实了 NF2基因是一个肿瘤抑制基因。通过对同一患者的多个皮肤神经鞘瘤的研究，发现同一患者的不同肿瘤标本中既有肿瘤存在 NF2基因的丢失，又有肿瘤没有 NF2基因的丢失，说明了这些患者中肿瘤的发展起源于不同的细胞克隆，各肿瘤的基因变异是独立发生的。
Objective To investigate the loss of NF2 gene in schwannomas of patients with neurofibromatosis type 2 (NF2) using microsatellite polymorphism markers in order to clarify the mechanism of tumorigenesis and the characteristics of NF2 tumor suppressor genes. Gene diagnosis provides the basis. Methods The skin tumor tissues and peripheral blood of patients with NF2 were collected, DNA was extracted, and microsatellite polymorphism markers were used for genotype analysis. Results The number of cases of heterozygous loss in the 43 cases of schwannoma on the microsatellite polymorphisms CRYB2, D22S193, NF2CA1, NF2CA3, D22S268, D22S430 were 18, 14, 0, 13, 16, and 12 cases, respectively. Conclusion The loss of heterozygosity of multiple microsatellite polymorphism markers within the NF2 gene and the two wings, which are closely linked to the NF2 gene, was established to detect loss of the NF2 allele, again confirming that the NF2 gene is a tumor suppressor gene. Through the study of multiple cutaneous schwannomas of the same patient, it was found that both the loss of NF2 gene and the loss of NF2 gene were found in different tumor specimens of the same patient, indicating that the development of tumors in these patients originated from For different cell clones, the genetic variation of each tumor occurs independently.