| 引用本文： |
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何晨昊,刘馨屿,钟子琳,等.一个中国Usher综合征2型家系中USH2A基因的2个新的致病突变[J].同济大学学报（医学版）,2020,41(3):273-277. [点击复制]
- HE Chen-hao,LIU Xin-yu,ZHONG Zi-lin,et al.Mutation screening of the USH2A gene reveals two novel pathogenic variants related to simplex Usher syndrome 2 in Chinese patients[J].同济大学学报（医学版）,2020,41(3):273-277. [点击复制]
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| 摘要: |
| 目的为了扩大USH2A突变的范围并进一步揭示USH2A基因在2型Usher综合征（Usher syndrome type 2， USH2）中的作用，对中国的USH2患者进行了USH2A基因突变筛选。方法从收集到的中国USH2患者及其家属的外周血中提取基因组DNA，设计特异性引物扩增USH2A基因编码区（外显子2-72）并使用Sanger测序研究等位基因并与NCBI数据库中的标准序列进行比对。使用PolyPhen-2等预测软件对筛选出来的突变的致病性进行预测。结果在1例患者中检测到2个之前未报道过的致病的杂合突变c.230dupA(Phe78Valfs*30)和c.4085C＞T(p.Pro1362Leu)。结论通过全外显子测序鉴定了可能导致USH2的2个新的杂合USH2A基因致病突变。这一结果扩大了已知的USH2A基因致病突变的范围。 |
| 关键词: Usher综合征 USH2A基因 突变筛选 |
| DOI：10.16118/j.1008-0392.2020.03.001 |
| 投稿时间：2019-10-21 |
| 基金项目:国家自然科学基金（81371062、81602582） |
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| Mutation screening of the USH2A gene reveals two novel pathogenic variants related to simplex Usher syndrome 2 in Chinese patients |
| HE Chen-hao,LIU Xin-yu,ZHONG Zi-lin,CHEN Jian-jun |
| (Tongji University School of Medicine, Shanghai 200092, China; Translation Research Institute of Brain and Brain-Like Intelligence, Fourth People's Hospital, Tongji University School of Medicine, Shanghai 200081, China;Translation Research Institute of Brain and Brain-Like Intelligence, Fourth People's Hospital, Tongji University School of Medicine, Shanghai 200081, China; 3. Dept. of Pediatrics, Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, China) |
| Abstract: |
| ObjectiveTo investigate mutations of USH2A gene in Chinese patients with Usher syndrome type 2（USH2）. MethodsGenomic DNA was extracted from the peripheral blood of unrelated 8 Chinese USH2 patients and their parents. The specific primers for amplifying the coding region (exons 2-72) of the USH2A gene were designed. Sanger sequencing was used to study alleles. Silico prediction tools such as PolyPhen-2 were used to predict the pathogenicity of the variants identified in these patients. ResultsTwo novel heterozygous pathogenic variants c.230dupA (Phe78Valfs*30) and c.4085C＞T (p.Pro1362Leu) were detected in a patient. ConclusionWe identified two novel heterozygous pathogenic variants in the USH2A gene that might cause the USH2. It expands the spectrum of USH2A variants in USH. |
| Key words: Usher syndrome USH2A gene sequence variants |
