患者的NKX2.5突变的四分法洛特的患者
E Goldmuntz1, E Geiger, D W Benson
1Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.goldmuntz@email.chop.edu
Circulation
|November 21, 2001
概括
NKX2.5基因的突变与Fallot四分法 (TOF) 有关. 这项研究在4%以上的非综合征性TOF患者中发现了NKX2.5突变,为遗传原因提供了新的见解.
科学领域:
- 遗传学 是一个遗传学.
- 心血管科学 心血管科学
- 发育生物学 发展生物学
背景情况:
- 最近的研究表明,NKX2.5基因突变有助于Fallot四分法 (TOF).
- 了解TOF中NKX2.5突变的频率和影响对于遗传咨询和治疗至关重要.
研究的目的:
- 为了确定NKX2.5突变在患有Fallot四重症的患者中的患病率.
- 探索NKX2.5基因型和TOF表型之间的关系.
主要方法:
- 用对形状敏感的凝电泳和测序对114名TOF患者进行NKX2.5变化的基因定型.
- 排除22q11缺失或其他染色体异常的患者.
主要成果:
- 在6名与TOF无关的患者中发现了4种异构NKX2.5突变.
- 在患有肺动脉缩和右主动脉门的患者中发现了突变,但在PR间隔延长患者中没有发现突变.
- 三种突变影响了保存的氨基酸,其中两个位于NK2域内.
结论:
- NKX2.5突变代表了非综合征性TOF中首次发现的基因缺陷.
- 至少有4%的TOF患者发生NKX2.5突变.
- 这些突变位于家庭主域之外,与传导缺陷无关,并且显示不完全的透性.
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