一个Ⅰ型神经纤维瘤家族NF1基因18和19外显子的检测  

Detection of NF1 exon 18 and 19 in a Neurofibromatosis type 1 family

作　　者：刘晶[1] 周琴[2] 许名宗[1] 张贵平[1] 肖毅仁[1] 雷日华[1] 姚飞虹[1] 陈莹花[2] 罗桐秀[1] 

机构地区：[1]湘南学院化学与生命科学系 [2]湘南学院基础医学部,湖南郴州423043

出　　处：《中国优生与遗传杂志》2013年第4期13-14,共2页Chinese Journal of Birth Health & Heredity

基　　金：郴州市科技局计划项目(2009jh22)

摘　　要：目的检测郴州市一个Ⅰ型神经纤维瘤家族NF1基因的18～19外显子区段是否发生突变。方法应用PCR技术扩增NF1基因18～19外显子区段,并对PCR产物进行测序。结果该家系的IV1患者的18外显子的一对碱基发生置换(错义突变),II2患者的18～19外显子之间的内含子一对碱基发生置换,但家系中另两名患者和正常成员18～19外显子区段序列均正常。结论 NF1具多突变性。两处碱基置换可能与II2和IV1患神经纤维瘤发生有关,但不是该家族引起神经纤维瘤的共享突变位点。Objective： To detect if there are any mutations within NFI exon 18 and 19 of a neurofibromatosis type 1 （NF1） family we find in ChenZhou. Methods： Polymerase chain reaction （PCR） are applied to amplify NF1 exon 18 and 19. Then the fragments are sequenced. Results： We found a missense mutation NF 1 exon 18 in IV,. Besides, there is a base pair replacement in the intron which connects exon 18 and 19 in II2. However, NF1 18 to 19 exons section sequence of the other two patients and normal members in the family were normal. Conclusion： NF1 could contain multiple mutations; Two mutations in NFI exon 18 and intron linking exon 18 and 19 in two patients of this family might contribute to their disease. However, the two mutations sites are not shared by all the patients in this family.

关 键 词：1型神经纤维瘤 18~19外显子 突变 

分 类 号：R739.4[医药卫生—肿瘤]