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Updated: Jul 24, 2025

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在605名患有非综合征性心脏干缺陷的中国儿童的致病变体分析,基于针对性测序

JiaJun Ye1, Yiwei Niu1, Yongxuan Peng1

  • 1Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.

Genomics
|July 5, 2023
PubMed
概括

在中国患者中发现了与心脏干缺陷 (CTD) 相关的基因的遗传变异. 针对性测序揭示了超过11%的非综合征性CTD病例中的有害变异,有助于基因诊断.

关键词:
心脏神经峰是心脏神经峰.这种心脏缺陷是Conotruncal心脏缺陷.有害的变种可能会造成破坏.第二个心脏场.有针对性的前子序列测序.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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