Hypertrophic cardiomyopathy pathogenic gene and its application
A hypertrophic cardiomyopathy and gene technology, applied in the fields of molecular biology and medicine, can solve the problems of restricting early intervention and difficult early diagnosis of sudden cardiac death disease, and achieve the effect of easy promotion, simple and efficient operation
Active Publication Date: 2021-08-06
CENT SOUTH UNIV
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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
Method used
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Embodiment 1
[0035] Example 1. Gene screening for primary hypertrophic cardiomyopathy
[0036] Research objects: A family of hypertrophic cardiomyopathy diagnosed strictly according to clinical diagnosis and 200 cases of local normal control group; corresponding clinical data and venous blood 5mL were collected.
[0037] The specific implementation steps are as follows:
[0038] (1) Operation steps
[0039] When carrying out the experiment, first shake the blood collection tube upside down, and take out 600 μL from it, then use the QIAGEN DNA extraction kit (69504), and perform the following operations according to the instructions:
[0040] ① Add 20 μL of proteinase K to a 1.5 mL centrifuge tube, then add 600 μL of peripheral blood and mix well;
[0041] ② Add 200 μL of AL Buffer, vortex and mix, and then put it in a water bath at 56°C for 15 minutes;
[0042] ③End the water bath, add 400 μL of absolute ethanol to the tube, shake and mix;
[0043] ④ Transfer the mixed liquid to the DN...
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The present invention relates to the fields of molecular biology and medicine, in particular to a mutation site of the coding sequence c.3041_3041delT / p.L1014Rfs*6 of exon No. A detection method and a detection kit for a variant site. The invention expands the mutation spectrum of the MYBPC3 gene to a certain extent, complements the lack of information on the pathogenic genes of the hypertrophic cardiomyopathy in the Chinese population, and is beneficial to the early diagnosis and screening of the hypertrophic cardiomyopathy. At the same time, the method for genotype detection of the variant site and the kit thereof in the present invention are simple, efficient, and easy to popularize, thereby providing a new and convenient way for the prediction of the risk of primary hypertrophic cardiomyopathy, which will have Contribute to the prevention and treatment of sudden cardiac death including hypertrophic cardiomyopathy.
Description
technical field [0001] The present invention relates to the fields of molecular biology and medicine, in particular to a mutation site of the coding sequence c.3041_3041delT / p.L1014Rfs*6 of exon No. A detection method and a detection kit for a variant site. Background technique [0002] Hypertrophic cardiomyopathy is a common myocardial disease associated with sudden cardiac death. Its estimated prevalence rate is 1 / 500, and some studies estimate its prevalence rate 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, about 6-13% of sudden cardiac death cases are caused by hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is usually an autosomal dominant form of inherited cardiomyopathy. The pathological hallmark of hypertrophic cardiomyopathy is dysregulation of cardiomyocytes. At present, it has been de...
Claims
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IPC IPC(8): C07K14/47C12N15/12C12N15/85C12N5/10C12Q1/6883
CPCA01K2217/05A01K2267/0306C07K14/4716C12N15/8509C12Q1/6883C12Q2600/156
Inventor 项荣金介员黄皓范亮亮
Owner CENT SOUTH UNIV