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New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population

中国人群中非综合征耳聋相关 MARVELD2 (DFNB49)基因新单核苷酸多态性位点分析

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中文概要

目 的

探究 MARVELD2 在中国非综合征耳聋 (NSHL) 人群中的突变频谱和突变频率。

创新点

发现 MARVELD2 突变频谱具有明显种族特异性。 中国 NSHL 人群中的突变位点及频率不同于已报道的其他人群, 并首次筛选到新致聋候选突变 MARVELD2 c.730G>A。 本研究有助于进一步阐释 MARVELD2 在 NSHL 中的作用。

方 法

收集 283 例 NSHL 患者外周血, 提取基因组 DNA, 涉及 9 对引物覆盖 MARVELD2 基因编码区, 经聚合酶链反应 (PCR) 扩增后 Sanger 测序。 测序结果与参考序列比对, 获得的 MARVELD2 变异位点通过正常人群频率比较、 氨基酸保守性分析、 氨基酸性质分析、 SIFT 和 PolyPhen 有害性预测及蛋白结构功能预测分析等进一步筛选得到耳聋候选突变位点。

结论

中国 NSHL 人群的 MARVELD2 突变位点与巴基斯坦人群, 以及斯洛伐克、 匈牙利和捷克罗马人群不同, 具有明显的种族特异性。 本研究在 283 个 NSHL 病例中共鉴定了 11 个变异位点。 其中, c.730G>A 突变可能影响 MARVELD2 蛋白的正常功能, 与 NSHL 致病有较高的相关性, 是一个候选致聋突变。

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Acknowledgements

We thank the patients and their families for the participation in this study.

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Author notes

  1. The two authors contributed equally to this work

Authors and Affiliations

  1. Division of Medical Genetics and Genomics, the Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China

    Jing Zheng, Wen-fang Meng, Ye Chen & Min-xin Guan

  2. Institute of Genetics, Zhejiang University, Hangzhou, 310058, China

    Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Ye Chen & Min-xin Guan

  3. Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, China

    Juan Yao & Hui Wang

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  1. Jing Zheng
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Correspondence to Ye Chen.

Additional information

Project supported by the National Basic Research Priorities Program of China (Nos. 2014CB541702 and 2014CB541704), the National Natural Science Foundation of China (Nos. 81470685 and 81600817), and the Zhejiang Provincial Public Welfare Technology Applied Research Project (No. 2016C33148), China

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Zheng, J., Meng, Wf., Zhang, Cf. et al. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. J. Zhejiang Univ. Sci. B 20, 164–169 (2019). https://doi.org/10.1631/jzus.B1700185

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