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Updated: May 28, 2025
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一种相对独立的单 haplotype 衍生方法,用于对孕妇携带者染色体重组的非侵入性产前检测
Mengyang Du1, Xi Yang2, Ruixiu Zhang1
1Department of Reproductive Immunology, Shanghai Key Laboratory of Maternal-Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, China.
Molecular genetics and genomics : MGG
|February 10, 2025
概括
这项研究引入了一种使用牛津纳米孔测序进行结构性染色体重排的非侵入性产前测试 (NIPT-SR) 的新方法. 这种方法可以准确地确定转位的胎儿遗传,而不需要家庭遗传数据,有助于预防出生缺陷.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 生物信息学是一种生物信息学.
背景情况:
- 结构性染色体重组,如转位,对胎儿发育构成风险.
- 对这些重组的准确产前诊断对于遗传咨询和管理至关重要.
- 现有的结构重组的非侵入性产前检测方法 (NIPT-SR) 往往需要父母的类型信息.
研究的目的:
- 开发和验证一个新的NIPT-SR战略,整合牛津纳米孔技术 (ONT),用于缺乏广泛家庭遗传数据的病例.
- 准确地推断胎儿遗传的t(4;8) 在试验体中平衡的转位,使用基于单 haplotype 的方法.
- 评估NIPT-SR用于检测载体胎儿不平衡转位的可行性.
主要方法:
- 长读测序使用ONT在探针上识别转位断点和链接单核酸多态 (SNP).
- 与转位断点相关的基于SNP的单元类型的构建.
- 使用隐藏马尔科夫模型 (HMM) 分析在无细胞DNA (cfDNA) 上应用NIPT-SR来推断胎儿的单元型遗传.
主要成果:
- 使用纳米孔测序确定了精确的转位断点连接点.
- 在没有额外的家族数据的情况下,成功建立了与chr4和chr8断点相关的基于SNP的单元类型.
- 对cfDNA的哈普洛型分析表明,胎儿继承了正常的哈普洛型,这与随后的NIPT和产后CNV-seq/karyotype确认一致.
结论:
- 尼普特-SR与ONT的整合为产前诊断结构性染色体重组提供了一个强大的工具.
- 这种新的策略规避了对广泛家庭遗传信息的需求,扩大了NIPT-SR的适用性.
- 这种方法可以作为预防出生缺陷的现有方法的宝贵补充.
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