KCNQ1 gene detection kit and detection method

Abstract

The invention discloses a KCNQ1 gene detection kit and a detection method. The detection method comprises the following steps: A performing DNA extraction; B performing quality inspection on the genome DNA; C constructing an amplicon targeted capture library; D sequencing the prepared library on a machine; E performing standard analysis on a data result; F performing data quality control; and G performing detection result variation. According to the invention, a KCNQ1 gene full coding region, 50 bp before and after the coding region, chr11: 2482918 sites, chr11: 2484803 sites, chr11: 2466289 sites and the like are covered; meanwhile, amplification of multiple pairs of specific primers can be carried out, compared with a traditional first-generation sequencing technology, the operation complexity is reduced, and the cost is reduced while the same sequencing depth as that of a second-generation sequencing technology is kept.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a KCNQ1 gene detection kit and detection method. Background technique [0002] Sudden cardiac death refers to natural death caused by cardiac causes characterized by sudden loss of consciousness occurring within 1 hour after the onset of acute symptoms, accounting for the majority of sudden death, and the deceased may or may not have cardiovascular disease before death. Sudden cardiac death has the characteristics of rapid onset, rapid progression, and high mortality. 17 million people die from cardiovascular diseases every year in the world, and sudden cardiac death accounts for about 25%. The incidence rate of sudden cardiac death was 1.40 / 1000 persons / year for women and 6.68 / 1000 persons / year for men. About 50% of cardiac arrests occur in individuals without known cardiac disease, but the majority of patients have undiagnosed ischemic heart disease. It is estimated t...

AI Technical Summary

Problems solved by technology

However, the currently recognized mutations in genes causing sudden cardiac death are only for the discovered hotspot mutations, and there are still some mutations that have not been used as targets for the prevention and treatment of sudden cardiac death.

(However, not all mutations of any of the aforementioned genes are associated with sudden cardiac death; the diagnosis of sudden cardiac death by detecting the existing few genetic mutations will inevitably lead to false negative test results

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