[胎前诊断的胎儿与马赛克主义环染色体 2]
Ying Zhou1, Lingling Xu, Lulu Yan
1Central Laboratory for Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com.
概括
马赛克环染色体2导致胎儿的子宫内生长迟缓和心血管缺陷. 基因分析显示,在2p25.3区域出现了新的缺失,证实了染色体异常.
科学领域:
- 人类遗传学 人类遗传学
- 产前诊断 在产前诊断
- 胎儿医学 胎儿医学
背景情况:
- 产前超声波检查发现唐氏综合征和心脏异常的风险增加.
- 复杂胎儿形的遗传基础需要先进的分子技术.
研究的目的:
- 为了研究一个胎儿的遗传基础,呈现出子宫内生长迟缓 (IUGR) 和心脏形.
- 通过产前查检测到的胎儿异常的病因.
主要方法:
- 从一个孕妇的临床数据的回顾性分析.
- 在母体血液中进行非侵入性产前检测 (NIPT),以检测胎儿的自由DNA.
- 在羊水和父母血液样本上进行G带染色体型化和三整体外体序列 (WES) 测序.
- 使用定量PCR (qPCR) 验证副本数量变异 (CNV).
主要成果:
- 胎儿表现出IUGR,心室隔膜缺陷,主导性大动脉和肺狭窄.
- 尼普特显示常见动脉增生症的风险较低;G-绑定显示环形染色体2 (45,XY,-2[5]/46,XY,r(2) 的马赛克 (45,XY,-2[5]/46,XY,r(2) 的p25q37) [55]).
- WES在2p25.3区域 (chr2:g.10500_1624775del) 发现了新的缺失,通过qPCR确认,基因表达减少.
结论:
- 涉及环染色体2的马赛克主义是IUGR和心血管形的可能原因.
- 在2p25.3中发现的de novo删除进一步支持了这种染色体异常在观察到的表型中的作用.
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