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使用下一代测序来检测EYS相关的视网膜炎染色体变异的副本数量检测

Masakazu Hiraoka^1,2, Yusaku Urakawa^1,3, Kanako Kawai¹

¹Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.

|June 24, 2024

概括

下一代测序 (NGS) 在检测导致视网膜色素炎 (RP) 的EYS基因突变中的副本数变异 (CNV) 方面显示出前景. 这项研究证实了NGS.

科学领域:

遗传学是一个遗传学.
眼科医生眼科眼科
分子生物学分子生物学

背景情况:

皮质视网膜炎 (RP) 是导致失明的主要遗传原因.
遗传诊断对于RP患者的管理和预后至关重要.
下一代测序 (NGS) 被广泛使用,但在检测副本数变异 (CNV) 方面存在局限性.

研究的目的:

重新评估EYS基因中的副本数变异 (CNVs),这是RP的主要原因.
评估 NGS 在 EYS 相关的 RP 案件中检测 CNV 的实用性.
为了比较基于NGS的CNV检测与多重结合依赖探头放大 (MLPA).

主要方法:

NGS用于在EYS基因样本中选CNV.
采用多重结依赖探头放大 (MLPA) 来确认NGS识别的CNVs.
此外,MLPA还对一组未经NGS诊断的RP患者进行了试验.

主要成果:

在8名患者中,NGS确定了可疑的CNV,所有患者的MLPA证实了这一点.
在42名RP患者中有2名之前未经NGS诊断的患者中检测到CNV.
大约8.3%的EYS-RP患者 (121人中有10人) 携带了CNV.

结论:

具有特定标准的NGS可以成为检测EYS相关RP中的CNV的一个有价值的工具.
虽然NGS在两个案例中错过了CNV,但它没有显示任何虚假阳性.
将NGS与MLPA等确认方法相结合,可以提高RP的诊断准确性.

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