长阅读测序作为初级动脉功能障碍的诊断工具
Liora H Feshbach1, Morgan Similuk1, Laura M Amendola1
1Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.
Case reports in genetics
|December 5, 2025
概括
长期读取的基因组测序成功诊断出HYDIN变异患者的初级状动力障碍 (PCD). 这种先进的技术克服了HYDIN2假基因带来的挑战,改善了PCD分子诊断.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 罕见疾病 罕见疾病
背景情况:
- 初级状动力障碍 (PCD) 是一种罕见的遗传疾病,影响功能.
- 超过50个基因与PCD有关,而HYDIN变异因同源的HYDIN2伪基因而带来诊断挑战.
研究的目的:
- 为了确定临床PCD和怀疑HYDIN变异的患者的分子诊断.
- 评估长读基因组测序 (lrGS) 在诊断与HYDIN相关的PCD中的实用性.
主要方法:
- 最初进行了简读基因组测序,检测了潜在的HYDIN变异.
- 临床长读基因组测序 (lrGS) 用于克服伪基因干扰.
- 分析的重点是确认致病性HYDIN变体及其配置.
主要成果:
- 短读测序确定了两个潜在的HYDIN变体 (c.5416C>T和c.3786-1G>T),但由于伪基因重叠,无法确认它们的临床意义.
- 长期读取的基因组测序最终证实了HYDIN的两种致病变体在转化配置中.
- 这建立了患者PCD诊断的分子基础.
结论:
- 长读基因组测序是诊断HYDIN相关PCD的强大工具,有效地解决伪基因干扰.
- 对PCD患者,特别是那些怀疑有HYDIN变异的患者实施irrGS可以显著提高诊断准确性.
- 改进的分子诊断有助于更好的疾病管理和PCD患者的遗传咨询.
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