| 三例散发I型神经纤维瘤病患者NF1基因突变检测 |
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| 引用本文： | 郎小乔,孙勇虎,付希安,孙乐乐,刘红,张福仁.三例散发I型神经纤维瘤病患者NF1基因突变检测[J].中国麻风皮肤病杂志,2019,35(1):9-12. |
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| 作者姓名： | 郎小乔 孙勇虎 付希安 孙乐乐 刘红 张福仁 |
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| 作者单位： | 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 |
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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。
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| 关 键 词： | I型神经纤维瘤病 NF1基因 突变分析 |
Mutation analysis in three cases with sporadic neurofibromatosis type 1 |
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| LANG Xiaoqiao,SUN Yonghu,FU Xi'an,SUN Lele,LIU Hong,ZHANG Furen.Mutation analysis in three cases with sporadic neurofibromatosis type 1[J].China Journal of Leprosy and Skin Diseases,2019,35(1):9-12. |
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| Authors: | LANG Xiaoqiao SUN Yonghu FU Xi'an SUN Lele LIU Hong ZHANG Furen |
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| Affiliation: | 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 |
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| 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. |
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| Keywords: | neurofibromatosis type 1 NF1 gene mutation analysis |
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