[1]施爱军,吴剑秋,尹　娜,等.一例双侧肾透明细胞癌患者与家系成员VHL基因的胚系突变分析[J].现代检验医学杂志,2021,36(02):35-38.[doi:doi:10.3969/j.issn.1671-7414.2021.02.009]
　SHI Ai-jun,WU Jian-qiu,YIN Na,et al.Germline Mutation Analysis of VHL Gene in a Case of Bilateral Clear Cell Renal Cell Carcinoma and Family Members[J].Journal of Modern Laboratory Medicine,2021,36(02):35-38.[doi:doi:10.3969/j.issn.1671-7414.2021.02.009]
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一例双侧肾透明细胞癌患者与家系成员VHL基因的胚系突变分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第36卷
期数:
2021年02期
页码:
35-38
栏目:
论　著
出版日期:
2021-04-30

文章信息/Info

Title:
Germline Mutation Analysis of VHL Gene in a Case of Bilateral Clear Cell Renal Cell Carcinoma and Family Members
文章编号:
1671-7414（2021）02-035-04
作者:
施爱军; 吴剑秋; 尹　娜; 等
（1.南通市如东县中医院检验科，江苏如东 226400；2. 江苏省肿瘤医院&江苏省肿瘤防治研究所&南京医科大学附属肿瘤医院，南京 210009）
Author(s):
SHI Ai-jun;  WU Jian-qiu; YIN Na;  et al
（1. Department of Laboratory Medicine, Rudong County Hospital of Traditional Chinese Medicine, Jiangsu Rudong 226400,China; 2. Jiangsu Cancer Hospital & Jiangsu Institute of Cancer Research & the Affiliated Cancer Hospital of Nanjing Medical University, Nanjing 210009, China）
关键词:
家族性肾细胞癌; VHL基因; 胚系突变
分类号:
R737.11；R730.43
DOI:
doi:10.3969/j.issn.1671-7414.2021.02.009
文献标志码:
A
摘要:
目的　对一例家族性双侧肾透明细胞癌患者家系VHL基因的胚系突变进行分析，结合其临床特点探讨可能的分子遗传学发病机制。方法　收集病人家族史、影像学、入院诊疗和随访资料，提取患者及家系直系成员外周血DNA和RNA，采用PCR-DNA测序、荧光定量PCR，RT-PCR片段长度和序列分析等方法进行VHL基因病理性胚系突变位点的筛查和验证。结果　PCR-DNA测序分析结果显示在这家系成员中均没有发现VHL基因编码区的点突变；VHL基因外显子拷贝数的定量分析数据显示VHL基因外显子2拷贝数减少；RT-PCR产物电泳和测序结果表明先证者与其兄二人存在VHL基因第2外显子杂合性缺失所致的病理性胚系突变。结论　家族性肾细胞癌家系中VHL基因的胚系突变筛查可作为一种有效的手段预测患者的预后，并可指导临床。

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备注/Memo

备注/Memo:
基金项目：江苏省卫生健康委基金（H2019100）；江苏省卫生健康委保健局基金（BJ190323）。
作者简介：施爱军（1977-），女，本科，学士学位，副主任技师，研究方向：微生物免疫学，E-mail：645334735@qq.com。
通讯作者：康铮，E-mail：1325833475@qq.com。
更新日期/Last Update: 2021-04-10