中华皮肤科杂志 ›› 2001, Vol. 34 ›› Issue (4): 257-259.

• 论著 • 上一篇    下一篇

神经纤维瘤病2型患者皮肤神经鞘瘤中的基因丢失

张军, 何筱仙, 贾建平   

  1. 首都医科大学宣武医院神经内科
  • 收稿日期:2000-09-04 出版日期:2001-08-15 发布日期:2001-08-15

Loss of NF2 Gene in Neurofibromatosis Type 2-Associated Cutaneous Schwannomas

ZHANG Jun, HE Xiaoxian, JIA Jianping   

  1. Department of Neurology, Xuanwu Affiliated Hospital, Capital University of Medical Sciences, Beijing 100053, China
  • Received:2000-09-04 Online:2001-08-15 Published:2001-08-15

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摘要： 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。

关键词: 神经纤维瘤病2型, 神经鞘瘤, 基因,神经纤维瘤病2型, 微随体重复, 杂合子丢失

Abstract: Objective The loss of NF2 gene in cutaneous schwannomas of neurofibromatosis type 2 patients was investigated in order to explore the tumorigenesis and characteristics of NF2 tumor suppressor gene, and to provide evidence for presymptomatic gene diagnosis for NF2 patients. Methods DNA was extracted from whole blood and frozen tumor tissue, respectively. Genotyping was performed using 6 microsatellite markers flanking or within the NF2 gene:CRYB2-D22S193-NF2CA1-NF2CA3-D22S268-D22S430, which is tightly linked to the NF2 gene and analyzed on an ABI Genetic Analyzer 310 after PCR amplification. Results A total of 18,14,0,13,16,12 samples showed loss of heterozygosity at microsatellite markers CRYB2, D22S193, NF2CA1, NF2CA3, D22S268, D22S430 in 43 samples of cutaneous schwannomas, respectively. Conclusions The method for detection of NF2 allelic loss was established. Frequent allelic loss reconfirms that NF2 gene is a tumor suppressor gene. The observation that tumors with or without allelic loss of the NF2 gene exist in the same patient indicates that these tumors are originated from different clones in which genetic alterations occurred independently.

Key words: Neurofibromatosis 2, Neurilemmoma, Genes,neurofibromatosis 2, Microsatellite repeats, Loss of heterozygosity