Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy

Abstract

The invention relates to the technical field of biology and particularly relates to a non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy. The method comprises the following steps: (1) extracting genomes; (2) carrying out multiplex PCR amplification on target genes; (3) constructing a target gene library; and (4) sequencing the target gene library by virtue of a next-generation semiconductor sequencing platform, and screening gene mutation sites relevant with the hypertrophic cardiac myopathy. The method is simple, convenient, rapid and low in cost, multiple samples can be detected once, the foundation is laid for the screening of the hypertrophic cardiac myopathy, and the road is exploited for the clinic molecular diagnosis.

Description

technical field [0001] The invention relates to the field of biotechnology, to medical molecular diagnosis and biotechnology, and in particular to a screening method for non-therapeutic hypertrophic cardiomyopathy-related pathogenic gene mutations. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, mainly manifested as left ventricular asymmetric hypertrophy or myocardial wall thickening, less patients show left ventricular outflow tract obstruction, right ventricular hypertrophy or double ventricle fat. The pathological features are diffuse hypertrophy, deformity, nuclear enlargement, deep staining and myocardial fiber disorder of myocardial cells. The clinical manifestations of HCM range from no symptoms to dyspnea, syncope, chest pain and even sudden cardiac death and fatal arrhythmia. [0003] HCM is the first inherited heart disease whose etiology has been elucidated from a genetic perspective. In 1990, the fir...

AI Technical Summary

Problems solved by technology

The application uses probe capture sequencing, which, like other traditional DNA chip hybridization and capillary electrophoresis sequencing technologies, is not only time-consuming and laborious, but also expensive, and cannot satisfy the genetic detection of hypertrophic cardiomyopathy at all.

Images