Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
复制标题
中国 Von Hippel-Lindau 病患者中 VHL 基因新突变的患病率较高。
DOI：
10.1016/j.urology.2013.09.069
复制
发表时间：
2014-03-01
期刊：
影响因子：
2.1
通讯作者：
Gong, Kan
中科院分区：
文献类型：
--
作者：
Wang, Xi;Zhang, Ning;Gong, Kan
目的观察中国Von Hippel-Lindau（VHL）病患者的临床和分子特征。材料与方法采用聚合酶链式反应（PCR）直接测序和通用引物定量荧光多重PCR技术，对2009年至2012年北京大学第一医院泌尿外科招募的19个VHL病家系进行VHL基因突变检测。19个VHL病家系的结果家系中，VHL 疾病 I 型有 14 个家系，IIA 型有 1 个家系，IIB 型有 4 个家系。突变检测发现错义点突变7个家族，无义点突变3个家族，小插入缺失6个家族，大缺失3个家族。 9个家族（47.4%）发现新突变，其中6个家族无家族史；在10个家族中发现了既往报道的突变，其中3个无家族史。结论本组患者中无家族史的新突变发生率较高，推测中国VHL疾病患者中VHL基因新生突变的发生率较高。泌尿学 83：675.e1-675.e6，2014。(C) 2014 Elsevier Inc.
OBJECTIVE To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients.MATERIALS AND METHODS Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012.RESULTS Of the 19 VHL disease families, VHL disease type I was identified in 14 families, type IIA in 1 family, and type IIB in 4 families. Mutation detection found missense point mutations in 7 families, nonsense point mutations in 3 families, small indels in 6 families, and large deletions in 3 families. Novel mutations were detected in 9 families (47.4%), in which 6 had no family history; previously reported mutations were found in 10 families, in which 3 had no family history.CONCLUSION The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients. UROLOGY 83: 675.e1-675.e6, 2014. (C) 2014 Elsevier Inc.