中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (1): 9-12.doi: 10.12144/zgmfskin201901009

• 论著 • 上一篇    下一篇

三例散发I型神经纤维瘤病患者NF1基因突变检测

郎小乔1，2，3   孙勇虎2，3  付希安2，3  孙乐乐2，3  刘红2，3  张福仁2，3   

  1. 1济南大学山东省医学科学院医学与生命科学学院，济南，250000

    2山东省皮肤病性病防治研究所，济南，250022

    3山东省皮肤病医院，济南，250022

  • 出版日期:2019-01-15 发布日期:2019-02-26
  • 通讯作者: 张福仁,E-mail: zhangfuren@hotmail.com

Mutation analysis in three cases with sporadic neurofibromatosis type 1

LANG Xiaoqiao1,2,3，SUN Yonghu2,3，FU Xi'an2,3, SUN Lele2,3, LIU Hong2,3, ZHANG Furen2,3    

  1. 1. School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, China;  2. Shandong Provincial Institute of Dermatology and Venereology, Jinan 250022, China;  3. Shandong Dermatological Hospital, Jinan 250022, China
  • Online:2019-01-15 Published:2019-02-26
  • Contact: ZHANG Furen, E-mail: zhangfuren@hotmail.com

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摘要： 目的：对三例散发I型神经纤维瘤病(neurofibromatosis type 1，NF1)患者进行NFl基因检测。方法：提取3例患者及5名正常家系成员和100例无NF1家族史的正常人外周血DNA。PCR扩增NF1基因全部外显子及侧翼序列，经纯化后采用Sanger测序法对目标基因区域进行测序。结果：患者1，患者2和患者3分别检测到39号外显子发生碱基G缺失（c.5635 delG），47号外显子大片段碱基缺失（c.7041～7062+4del），21号外显子发生碱基A、C缺失（c.2714-2715delAC）。患者家属及100例正常对照均未检测到上述突变。结论：本研究在3例NFl患者中发现NFl基因3种新突变。

关键词: I型神经纤维瘤病, NF1基因, 突变分析

Abstract: Objective: To detect the mutations of NF1 gene in three sporadic patients with neurofibromatosis type 1 (NF1). Methods: DNA was extracted from peripheral blood of three cases and 5 family members and 100 unrelated healthy controls. NF1 gene was amplified by polymerase chain reaction (PCR). After purification, the PCR products were sequenced by sanger sequencing. Results: Three mutations of c.5635 delG in exon 39, c.7041~7062+4del in exon 47 and c.2714-2715delAC in exon 21 in NF1 gene were identified in the three patients respectively. These mutations were not found in other family members and the 100 healthy controls. Conclusion: Three novel mutations in NF1 gene were found in this study.

Key words: neurofibromatosis type 1, NF1 gene, mutation analysis