圆柱心脏缺陷:分子遗传学,基因组学研究和创新的叙述性审查
Sruthi Viswanathan1,2, Prachi Sandeep Oza1,2, Anikha Bellad1,2
1Institute of Bioinformatics, Bengaluru, Bangalore, Karnataka, India.
Omics : a journal of integrative biology
|July 10, 2024
概括
先天性心脏缺陷 (CHDs),特别是状心脏缺陷 (CTDs),是常见的出生异常. 本综述强调了最近在了解CTD遗传原因,诊断和管理方面的进展.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 先天性心脏缺陷 (CHD) 是最常见的出生缺陷,导致显著的新生儿死亡率,特别是在发展中国家.
- 干性心脏缺陷 (CTDs) 代表了大量的CHDs子集,其分子遗传学和基因组基础仍然需要阐明.
- 尽管在诊断和外科干预方面取得了进展,但对CTD病因学的全面理解仍然不完整.
研究的目的:
- 提供关于近期 (自2016年1月以来) 干性心脏缺陷 (CTDs) 的分子遗传学和基因组学的最新进展的综合性审查.
- 检查CTDs的遗传病因,流行,胚胎学,诊断和临床管理.
- 要突出副本数变异,单核酸变异和与CTD相关的行星健康研究.
主要方法:
- 从2016年1月起出版的科学文献的叙事综述.
- 对与CTD相关的遗传变异 (CNV,SNV) 的研究分析.
- 包含有关CTD的行星健康研究和大型队列研究.
主要成果:
- 最近的研究揭示了CTD复杂的遗传情景,确定了特定的副本数和单核酸变异.
- 行星健康倡议越来越多地关注大规模的CTD研究.
- 了解遗传基质的进步正在改善诊断准确性和预后评估.
结论:
- 对CTD分子遗传学和基因组学的更深入的理解对于改善诊断和患者的治疗结果至关重要.
- 根据遗传特征量身定制的精准医学干预措施对CTD管理具有前景.
- 持续的全球研究工作对于准确的预后和CTD复发风险评估至关重要.
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