Kit for testing and identifying genetic cardiac hypertrophy related gene mutation
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A technology of cardiac hypertrophy and heredity, applied in the field of molecular biology, can solve the problems of large differences in the occurrence time of ventricular hypertrophy, numerous factors of ventricular hypertrophy, and difficulty in identifying hypertension, etc., to meet the clinical detection requirements, improve detection accuracy and Stability, the effect of reducing the link of repeated operations
Inactive Publication Date: 2013-03-13
康旭基因技术(北京)有限公司
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These methods have great disadvantages: 1. The timing of ventricular hypertrophy varies greatly. There is no hypertrophy in the early stage, and it takes decades for some hypertrophy to appear; 2. There are many factors that cause ventricular hypertrophy. Many diseases show the same gross morphological characteristics of the heart as HCM, for example, Fabry disease is a sex-linked genetic lysosomal Ot.
[0009] However, the cost of directly using a large-scale DNA parallel sequencing platform is still unaffordable for individuals
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Embodiment 1
[0032]1. Probe design: According to the genes MYH7, MYH6, MYBPC3, TNNT2, TNNI3, TNNC1, ACTC1, TPM1, TTN, CSRP3, DES, DMD, LDB3, VCL, TCAP, PLN, NEXN, ACTN2, FKTN published in the Human Genome Database , MYPN, TMPO, ANKRD1, PSEN1, PSEN2, ABCC9, SGCD, DSG2, EYA4, DSP, SCN5A, LMNA, MURC exon sequence design and synthetic probes, the probe is RNA, designed in a shingled manner in the target segment, The length of the probe is 20bp, the overlapping region is 5bp, and the coverage reaches 15bp at both ends of the target segment. Agilent's SureSelect buffer system is adopted.
[0033] 2. Genome extraction: Qiagen FlexiGene DNA Kit (Code No: 51204) was used to extract the genomes of 96 samples to be tested. The OD value reached 1.8-2.0, and 5ug was used as the starting template.
[0034] 3. Sample preparation before sequencing
[0035] 1) Fragmentation of the target gene: take 96 parts of genomic DNA that have been quantified, and dilute to contain 5 μg of genomic DNA per 100 μL, th...
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Abstract
The invention relates to a kit for detecting genetic cardiac hypertrophy related gene mutation samples, particularly to a product for detecting genetic cardiac hypertrophy related genes by a massively parallel sequencing platform technology. The method involved in the kit comprises: a) uniquely designing and preparing a capture probe, which is directed at all exon fragments of genes ACTC1, ACTN2, BRAF, CALR3, CASQ2, CSRP3, GLA, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, PRKAG2, RAF1, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, and VCL; b) designing unique joints with tag sequences; c) using universal primers to conduct PCR amplification on probe sequences; and d) designing unique operations for capture of mixed target fragments. The massively parallel sequencing platform prepared by the method and the kit has the advantages of high sample throughput, high efficiency, and easy operation, thus greatly reducing the sequencing testing cost.
Description
technical field [0001] The invention belongs to the field of molecular biology, relates to medical diagnosis and biotechnology, and relates to an in vitro diagnostic kit for detecting gene mutations related to hypertrophic cardiomyopathy, in particular to a large-scale parallel sequencing platform technology for testing and identifying hereditary cardiac hypertrophy Kits for related gene mutations. technical background [0002] Ventricular hypertrophy is a symptom or a clinical manifestation, not a disease name. Regarding ventricular hypertrophy, the definition is that in the heart, the ventricular myocardium changes in shape and increases in number, resulting in thickening of the ventricular wall, while The relative space of the chamber of the ventricle is reduced, and the blood volume is reduced. There are many reasons for ventricular hypertrophy, such as hypertension, coronary heart disease, hypertrophic cardiomyopathy, valvular disease (such as aortic insufficiency), et...
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