| 摘要: |
| 目的 探讨中国常染色体显性遗传性多囊肾病（ADPKD）患者多囊肾病1型致病基因（PKD1）和多囊肾病2型致病基因（PKD2）的突变类型。方法 采用长链PCR和高通量测序方法对129个ADPKD家系的PKD1和PKD2基因进行突变分析，并用双脱氧链终止法测序技术对阳性突变进行验证。结果 在129个ADPKD遗传家系中共检测到116个家系存在PKD1或PKD2基因的118个突变位点，检出率为89.9%（116/129）。PKD1和PKD2的突变率分别为92.2%（107/116）和8.6%（10/116）。在这118个突变位点中，80个（67.8%）为新突变，38个（32.2%）为已知突变；109个位于PKD1（33个已知突变和76个新突变），9个位于PKD2（5个已知突变和4个新突变）。结论 新发现的PKD1和PKD2突变位点将有助于ADPKD患者的早期诊断和预后预测，并为临床干预提供基本的遗传信息。 |
| 关键词: 高通量测序 常染色体显性多囊肾 多囊肾病致病基因 突变 |
| DOI：10.16781/j.0258-879x.2019.01.0007 |
| 投稿时间：2018-10-08修订日期：2018-12-14 |
| 基金项目:国家自然科学基金（81670612），上海市加强公共卫生体系建设三年行动计划（SCREENING STUDY GWIV-18），山东省自然科学基金（ZR2014HL024）. |
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| Detection and analysis of virulence genes for autosomal dominant polycystic kidney disease in 129 Chinese families |
| BU Lei,MA Yi-yi,MEI Chang-lin* |
(Department of Nephrology, Kidney Institute of PLA, Changzheng Hospital, Naval Medical University(Second Military Medical University), PLA Institute of Nephrology, Shanghai 200003, China
*Corresponding author) |
| Abstract: |
| Objective To investigate the mutation types of polycystic kidney disease 1 gene (PKD1) and polycystic kidney disease 2 gene (PKD2) in Chinese patients with autosomal dominant polycystic kidney disease (ADPKD).Methods The mutations of PKD1 and PKD2 in 129 inherited ADPKD families were analyzed by long PCR and highthroughput sequencing. The positive mutation was verified by Sanger sequencing method.Results A total of 118 mutation sites of PKD1 or PKD2 in 116 inherited ADPKD families were detected from 129 families, with the detection rate being 89.9% (116/129). The mutation rates of PKD1 and PKD2 were 92.2% (107/116) and 8.6% (10/116), respectively. Of the 118 mutation sites, 80 (67.8%) were new mutations and 38 (32.2%) were known mutations; and 109 mutation sites were located in PKD1 (33 known mutations and 76 new mutations) and 9 in PKD2 (5 known mutations and 4 new mutations).Conclusion The newly discovered PKD1 and PKD2 mutations may contribute to early diagnosis and prognosis prediction of ADPKD patients, and may provide basic genetic information for clinical intervention. |
| Key words: high-throughput sequencing autosomal dominant polycystic kidney polycystic kidney disease gene mutation |
