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揭示非编码的DMD变体:协同RNA测序和DNA测序用于增强分子诊断

Yinghong Pan^1,2, Babi Ramesh Reddy Nallamilli¹, Ruby Liu¹

¹Revvity Omics, Waltham, Massachusetts, USA.

Journal of medical genetics

|December 11, 2024

概括

RNA测序有效地识别了杜恩和贝克尔肌肉发育不良症 (DMD/BMD) 病例中的DMD基因拼接异常. 将RNAseq与DNA测序和免疫组织化学相结合,有助于对难以捉摸的DMD/BMD变异进行精确的遗传诊断.

科学领域:

遗传学和分子生物学
人类遗传学人类遗传学
医学遗传学医学遗传学

背景情况:

双氨酸 (DMD) 基因中的致病变异会导致诸如杜恩和贝克尔肌肉发育不良 (DMD/BMD) 这样的双氨酸病变.
虽然向基因测序改善了诊断,但一些DMD/BMD病例仍未在遗传上得到解决.
确定确切的遗传原因对于准确的诊断和潜在的治疗策略至关重要.

研究的目的:

评估总RNA测序 (RNAseq) 在识别DMD基因中的结合偏差事件中的实用性.
研究复杂的遗传重组及其对DMD基因表达的影响.
评估RNAseq,DNA测序和DMD/BMD免疫组织化学的联合诊断能力.

主要方法:

总RNA测序 (RNAseq) 在13名男性患者的肌肉活检上进行,这些患者临床诊断为DMD/BMD.
使用整合性基因组学查看器分析了拼接误差事件.
重新分析了向DNA测序,以确认由RNAseq.q.发现的复杂重排列事件.

主要成果:

在13例中,RNAseq在12例中检测到DMD基因中的拼接或表达异常.
鉴定出了各种拼接改变变异,包括内基SNP,小内基和内基缺失.
在五个案例中发现了影响多个外显子的复杂DNA重排,与DNA测序结果相关,并导致非正规的转录.

结论:

RNA测序是检测功能性DMD拼接偏差事件的强大工具.
将RNAseq与免疫组织化学和DNA测序相结合,可以更好地阐明DMD变体的致病性.
这种全面的方法可以在DMD/BMD患者中实现精确的基因诊断,这些患者最初的遗传发现尚未解决.

关键词:

在RNA-seqqq.临床实验室技术临床实验室技术诊断诊断诊断诊断诊断诊断神经肌肉疾病神经肌肉疾病序列分析,RNA序列分析,RNA序列分析

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