Front Genet:汉族人群中各种类型角膜营养不良相关的新型突变

2019-09-28 MedSci 网络

复旦大学上海医学院眼与耳鼻喉医院眼科的Zhang J等人在Front Genet杂志上发表了最新的一项工作,他们使用下一代测序技术(NGS)研究了角膜营养不良(CDs)汉族患者的遗传谱。

复旦大学上海医学院眼与耳鼻喉医院眼科的Zhang J等人在Front Genet杂志上发表了最新的一项工作,他们使用下一代测序技术(NGS)研究了角膜营养不良(CDs)汉族患者的遗传谱。

他们采用基于NGS的靶向区域测序方法评估71名汉族CD患者。他们设计了一个定制的捕获区域,以捕获所有编码外显子和非翻译区域,以及用于眼疾的801个候选基因的25 bp内含子侧翼序列。结合Genome Analysis Tool Kit最佳分析流程和密集计算预测方案来分析病原体中的变异。

结果发现,NGS的突变检测率为59.2%。 71名患者中有42名发现CD相关基因中的18个已知突变,这些病例显示出与先前报道一致的基因型与表型相关性。在包括CHST6、TGFBI、SLC4A11、AGBL1和COL17A1在内的各种基因中发现了9种可能致病的新变异。通过大量的计算分析,所有这些突变体均被预测为蛋白质遭到破坏。

因此,研究者认为这项研究扩大了中国人群中各种类型CD相关的基因突变谱,并体现出靶向NGS在遗传异质CD中的临床应用。

原文出处:

Zhang, J., et al., Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population. Front Genet, 2019. 10: p. 881.

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    2020-03-26 cy0324
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    2020-07-28 canlab
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    2019-09-30 snowpeakxu

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