CAJ | 학술논문

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15 min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1700~2500 bp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.
목적초보건립2형신경섬유류병(NF2)환자적표본고,분석기림상응용급유전학연구적개치.방법수집NF2환자병례자료병진행장기근종수방,회제가족계보도병건립신식자료고;채집NF2환자급가족고위성원외주정맥혈,분리혈장、혈청급림파세포분별보존;술중획취신선종류조직15 min내존입액담중,부분조직제작성석사표본;제취종류급림파세포표본중적DNA,질검병보존,채용PCR-DNA측서방법진행NF2기인돌변분석.결과이장293례환자신식납입자료고,병완성정기수방;수집종류빙동표본72례,종류석사표본275례,혈액양본80례;외주혈급빙동종류조직제취DNA적OD260/280치재1.80~1.86지간,198례석사양본제취적DNA편단장도주요분포재1700~2500 bp지간,능만족분자유전학연구적수요.결론 NF2표본고적건립가위증상전기인사사、유전규률분석급발병궤제연구제공표본래원.
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. Multipiex PCR and DNA seguencing were used for gene mutations analysis and screening test. Results 293 cases of 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.