2型神经纤维瘤病标本库的建立及应用分析  

Establishment and analysis of neurofibromatosis type 2 bank for research

作　　者：赵赋 张晶 王振民[2] 渠沛然[2] 杨智君[2] 王博[2] 刘丕楠[1,2] 

机构地区：[1]中国医学科学院北京市神经外科研究所,北京100050 [2]首都医科大学附属北京天坛医院神经外科,北京100050

出　　处：《分子诊断与治疗杂志》2013年第1期8-11,共4页Journal of Molecular Diagnostics and Therapy

基　　金：国家科技支撑计划课题(2012BAI12B03);北京市自然科学基金(7112049);北京市卫生系统高层次卫生技术人才队伍建设专项经费资助

摘　　要：目的初步建立2型神经纤维瘤病(NF2)患者的标本库,分析其临床应用及遗传学研究的价值。方法收集NF2患者病例资料并进行长期跟踪随访,绘制家族系谱图并建立信息资料库;采集NF2患者及家族高危成员外周静脉血,分离血浆、血清及淋巴细胞分别保存;术中获取新鲜肿瘤组织15min内存入液氮中,部分组织制作成石蜡标本;提取肿瘤及淋巴细胞标本中的DNA,质检并保存,采用PCR-DNA测序方法进行NF2基因突变分析。结果已将293例患者信息纳入资料库,并完成定期随访;收集肿瘤冰冻标本72例,肿瘤石蜡标本275例,血液样本80例;外周血及冰冻肿瘤组织提取DNA的OD260/280值在1.80～1.86之间,198例石蜡样本提取的DNA片段长度主要分布在1700～2500bp之间,能满足分子遗传学研究的需要。结论 NF2标本库的建立可为症状前基因筛查、遗传规律分析及发病机制研究提供标本来源。Objective To establish tissue bank of neurofibromatosis type 2 （NF2） and analysis its scientific value. Methods Medical records and long-term follow-up data of NF2 patients were collected for the establishment of data bank. Blood specimens of patients and high-risk family members of NF2 were taken, and the plasma, serum and lymphocytes were saved separately. Fresh tissues of NF2 tumors were obtained during the surgery and stored in liquid nitrogen, and some parts of tissue were formalin-fixed and parrffin- embedded（FFPE）. DNA of tumors and lymphocytes were extracted. Multiplex PCR and DNA seguencing were used for gene mutations analysis and screening test. Results 293 cases c~ NF2 patients, 72 specimens of frozen tissue, 275 specimens of FFPE tissue and 80 samples of blood were collected. OD260/280 ratios of DNA were between 1.80-1.86, and DNA fragments of 198 FFPE samples are between 1700-2500 bp. Both of them could be used for molecular genetic research. Conclusion Establishment of NF2 tissue bank could supply materials and datas for pre-symptomatic genetic screening, analysis of inheritance law and research of pathogenesis.

关 键 词：2型神经纤维瘤病 标本库 分子遗传学 

分 类 号：R739.4[医药卫生—肿瘤]