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Updated: May 6, 2026

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在KCNH2中检测出一种与长QT综合征2相关的新型致病变体,使用全外基因组测序

Erfan Kohansal1, Niloofar Naderi2, Amir Farjam Fazelifar1

  • 1Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

BMC medical genomics
|May 7, 2024
PubMed
概括

研究人员在一个患有长QT综合征 (LQTS) 的伊朗家庭中发现了一种新的KCNH2基因变异,这是一种心脏病. 整体外基因组测序 (WES) 揭示了可能的致病变体,这对于理解LQTS遗传学至关重要.

关键词:
在KCNH2中,KCNH2是KCNH2.长时间QT综合征突变突变是一种突变.整个外基因组的测序.

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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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