Pathogenic gene of hypertrophic cardiomyopathy and application thereof

Abstract

The invention relates to the field of molecular biology and medicine, in particular to a mutation site of a 29th exon coding sequence c.3041 _ 3041delT / p.L1014Rfs*6 of a hypertrophic cardiomyopathy pathogenic gene MYBPC3 transcript NM _ 000256. The invention also relates to a detection method and a detection test kit of the mutation site. The mutant spectrum of the MYBPC3 gene is expanded to a certain extent, the deficiency of pathogenic gene information of hypertrophic cardiomyopathy of Chinese population is supplemented, and early diagnosis and screening of hypertrophic cardiomyopathy are facilitated. Meanwhile, the method and the test kit for detecting the genotype of the variation site are simple and efficient in operation and easy to popularize, so that a simple and convenient new wayis provided for predicting the risk of primary hypertrophic cardiomyopathy, and prevention and treatment of sudden cardiac death diseases including hypertrophic cardiomyopathy are facilitated.

Description

technical field [0001] The invention relates to the fields of molecular biology and medicine, in particular to a mutation site of a hypertrophic cardiomyopathy pathogenic gene MYBPC3 transcript NM_000256 No. 29 coding sequence c.3041_3041delT / p.L1014Rfs*6, the invention also relates to the Variation site detection method and detection kit. Background technique [0002] Hypertrophic cardiomyopathy is a common myocardial disease associated with sudden cardiac death. Its estimated prevalence is 1 / 500, and more studies estimate its prevalence may be as high as 1 / 200. Hypertrophic cardiomyopathy is one of the most common causes of sudden cardiac death in young athletes. According to some studies on the etiology of sudden cardiac death in young athletes, approximately 6-13% of sudden cardiac death cases are due to hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is usually an autosomal dominant form of familial inherited cardiomyopathy. The pathological feature of hype...

AI Technical Summary

Problems solved by technology

[0003] For sudden cardiac death diseases including hypertrophic cardiomyopathy, since most of these diseases do not have obvious aura symptoms before the onset of symptoms, once the onset of symptoms often results in irreversible consequences

At the same time, it is difficult to realize early diagnosis of these diseases using traditional electrocardiogram, cardiac color Doppler ultrasound and other detection methods, which greatly restricts the early intervention of sudden cardiac death diseases including hypertrophic cardiomyopathy

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