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Method for detecting pathogenic genes of other system diseases causing cardiovascular symptoms

A cardiovascular and symptomatic technology, applied in the direction of biochemical equipment and methods, microbial measurement/testing, etc., can solve the problems of lagging progress, low diagnostic sensitivity, and inability to clarify the genetic causes of diseases, etc., to achieve strong practicability and low cost. The effect of low and many detection sites

Pending Publication Date: 2019-04-19
GENERAL HOSPITAL OF PLA +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0009] Although the second-generation high-throughput sequencing technology can detect various types of mutations in multiple genes quickly, accurately, and at low cost, so far, there has been no specific pathogenesis for other systemic diseases that cause cardiovascular symptoms. The high-throughput probes, chips or kits for genetic testing make the progress of the disease-related fields seriously lagging behind, the genetic cause of the disease cannot be clarified, the diagnostic sensitivity is low, and family screening and necessary early intervention and treatment cannot be implemented. It not only brings great pain and heavy economic burden to patients and their families, but also seriously hinders the substantial improvement of the overall quality of the population in our country

Method used

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  • Method for detecting pathogenic genes of other system diseases causing cardiovascular symptoms
  • Method for detecting pathogenic genes of other system diseases causing cardiovascular symptoms

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0058] Embodiment 1: Design and preparation of the probe set of the present invention

[0059] 1. Screening of pathogenic and / or susceptibility genes

[0060] The pathogenic and / or susceptible genes in this example are: LRP8, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4, POLG, SDHAF1, BCS1L, TTC19, UQCRB, UQCRQ , UQCRC2, CYC1, UQCC2, LYRM7, UQCC3, ATM, MRE11, RASA1, FOXF1, USB1, PIK3CA, STAMBP, LBR, MEF2A, LRP6, F12, ITPKC, S100A12, CD40LG, CASP3, FAM167A, HLA-A, CD40, FCGR2A , BLK, NDUFS7, NDUFS8, SURF1, PDHA1, PEX1, PEX5, PEX6, PEX2, PEX16, CTC1, NIPBL, SMC1A, SMC3, RAD21, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, RPL26 , RPL15, RPS29, TSR2, RPS28, PCCA, PCCB, GCDH, ETFA, ETFB, ETFDH, IVD, FAH, HBB, TRNT1, RBM8A, GATA1, PLA2G7, TIRAP, APP, CST3, ITM2B, PROS1, MYH9, HRG, PROC , SH2B3, JAK2, SERPINC1, PLAT, PDGFRA, C4A, HLA-B, IL10, IL23R, STAT4, TLR4, SERPIND1, MMACHC, SPINK1, CFTR, PRSS1, MPI, THBD, MPL, F9, F2, TET2, FADD, CFH ...

Embodiment 2

[0070] Embodiment 2: Composition, preparation and use of the kit of the present invention

[0071] The kit for detecting the pathogenic and / or susceptibility genes of thrombophilia described in this embodiment is to carry out the molecular genetics of the examined individual by detecting the mutations of the above-mentioned 263 pathogenic and / or susceptibility genes. Kits for diagnosis or risk prediction.

[0072]The components contained in the kit are: the probe set obtained in Example 1 (160 μL, 150 ng / μL), enrichment buffer (208 μL), hybridization buffer (800 μL), binding buffer (3.2 mL), washing Solution 1 (9mL), rinse solution 2 (45mL), NaOH solution (0.1M, 1mL), Tris-HCl buffer (1M, pH 7.5, 1.2mL), PCR reaction solution (580μL), TE buffer (800μL, 10mM Tris-HCl, 1mM EDTA, adjust the pH to 8.0, and adjust the volume to 500mL with water). Wherein each buffer composition is as follows:

[0073] (1) Enrichment buffer (per 20 μL):

[0074] Human cot-1 DNA (purchased from I...

Embodiment 3

[0120] Embodiment 3: verification of the use effect of the kit of the present invention

[0121] Utilize the kit of the present invention to detect 68 cases of samples, the results confirm that the capture rate of the target disease-causing and / or susceptibility genes is satisfactory, more than 99.83% of the original short sequences can be compared back to the reference sequence of the target region, and the target region’s The average effective sequencing data amount reaches 241.44Mb, and the average sequencing depth of the target region is 379.14X (see Table 1), which is far higher than the general genetic disease diagnosis requirements (generally 20X).

[0122] Table 1 The quality of sequencing data for pathogenic and / or susceptibility genes

[0123]

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Abstract

The invention provides a method for detecting pathogenic genes of other system diseases causing cardiovascular symptoms, and provides application of a reagent for detecting pathogenic and / or susceptible genes of other systemic diseases causing cardiovascular symptoms in preparing products for diagnosing other systemic diseases causing the cardiovascular symptoms. The reagent can detect at most 263diseases related genes simultaneously, and a reference can be provided for genetic diagnosis and personalized treatment of sick individuals so as to study causes of other systemic diseases causing the cardiovascular symptoms and to assess risk factors for early intervention and early treatment.

Description

technical field [0001] The invention belongs to the field of genetic engineering and molecular genetics, and in particular relates to a probe set, chip and kit for detecting individualized capture and sequencing of pathogenic genes of other systemic diseases that cause cardiovascular symptoms. Background technique [0002] Cardiovascular disease is a group of diseases of the heart and blood vessels, including coronary heart disease, cerebrovascular disease, peripheral peripheral arterial vascular disease, rheumatic heart disease, congenital heart disease, deep vein thrombosis, and pulmonary embolism. It has the characteristics of high morbidity rate, high disability rate, high mortality rate and high recurrence rate, and is a disease that seriously threatens human health. Among cardiovascular diseases, except for a small number of monogenic diseases, most of them are polygenic and multifactorial diseases. And it has been found that more than 300 risk factors are related to ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 何昆仑伍建赵晓静石金龙贾倩贾志龙张泽宇李晨马俊峰孟凡飞
Owner GENERAL HOSPITAL OF PLA
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