Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

HCM (Hypertrophic Cardiomyopathy) genotyping method and kit

A technology of hypertrophic cardiomyopathy and genotyping method, which is applied in the direction of biochemical equipment and methods, microbial measurement/testing, etc., can solve problems such as unfavorable factors in treatment, and achieve the effect of preventing spread

Active Publication Date: 2011-11-16
泰普生物科学(中国)有限公司
View PDF3 Cites 11 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the shortcoming of the clinical diagnosis method is that all the diagnosed patients have developed to the middle and late stages of the disease, which is a disadvantageous factor for treatment and surgery.

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • HCM (Hypertrophic Cardiomyopathy) genotyping method and kit
  • HCM (Hypertrophic Cardiomyopathy) genotyping method and kit
  • HCM (Hypertrophic Cardiomyopathy) genotyping method and kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0043] A hypertrophic cardiomyopathy gene PCR detection kit provided by the present invention includes primer base sequences for PCR amplification and sequencing of gene exons of MYH7, MYBPC3 and TNNT2, and also includes PCR amplification reaction solution: 1 μL of 10× PCR Buffer, 1μL of 2μM primers, 1μL of 2mM dNTP mix, 1μL of 15mM MgCl 2 , 1U Taq enzyme, 1μL 20ng / μL DNA template, add ddH 2 O to make up the volume to 10 μL.

[0044] The PCR primer sequences of the exons of the MYH7 gene are shown in Table 1, and the reference genome sequence is the sequence with the accession number NM_000364.1 in the GenBank database (the reference sequence of this patent has been corrected).

[0045] The PCR primer sequences of the exons of the MYBPC3 gene are shown in Table 2, and the reference genome sequence is the sequence whose accession number is U91629.1 in the GenBank database.

[0046] The PCR primer sequences of the exons of the TNNT2 gene are shown in Table 3, and the reference g...

Embodiment 2

[0056] 1. PCR-sequencing method to detect mutations in the exons of the MYH7 gene

[0057] The subjects of the study were 80 patients with hypertrophic cardiomyopathy who were clearly diagnosed in the hospital, and they had no blood relationship through family investigation. Among them, there were 40 probands in families with hypertrophic cardiomyopathy, 285 related family members, and 40 sporadic cases. 80 normal study controls were healthy people matched in sex and age.

[0058] Take 3 mL of EDTA anticoagulated venous blood from the patient, and divide it into 1.5 mL tubes, 300 μL per tube. Add 500 μL red blood cell lysate (10mM PH=7.5 Tris-Cl, 0.32M sucrose, 1% Triton-X-100, 5mM MgCl) to each tube 2 ), centrifuge at 9000rpm for 30s after mixing, and discard the supernatant. Repeat the above steps 2-3 times until the supernatant becomes clear. Add 300 μL leukocyte lysate (10 mM pH=8.0 Tris-Cl, 400 mM NaCl, 2 mM pH8.0 Na 2 EDTA), and 40 μL of 10% SDS, shaken for 30 s, su...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention provides a technical scheme to provide an HCM (Hypertrophic Cardiomyopathy) genotyping method and a kit. The method comprises the following steps of: a, carrying out a gene mutation test on genes MYH7 (Myosin Heavy Chain 7), MYBPC3 (Myosin Binding Protein C 3) and TNNT2 (Troponin 2) in a sample DNA (Deoxyribonucleic Acid), wherein the gene mutation test comprises PCR (Polymerase Chain Reaction) amplification sequencing of MYH7, MYBPC3 and TNNT2 gene exons; and b, comparing sequences obtained by amplification in the step a with a standard sequence of a database to determine a genotyping result. The invention has the beneficial effects of: (1) assisting the early diagnosis: finding out asymptomatic generation sufferers and non-generation sufferers in family members; and (2) assisting to guide the selective birth so as to eliminate the spread of the HCM in the family.

Description

technical field [0001] The invention relates to the field of genotyping, in particular to a genotyping method for hypertrophic cardiomyopathy and a detection kit thereof. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is one of the most common cardiomyopathies, characterized by asymmetric hypertrophy of the left ventricle, right ventricle and interventricular septum, and other cardiovascular diseases and systemic diseases that may cause myocardial hypertrophy are excluded. Its clinical manifestations are diverse, ranging from asymptomatic to mild chest tightness, palpitations to malignant arrhythmia, heart failure, and even sudden death in adolescence. [0003] It is estimated that the incidence of HCM in the general population is about 1 / 500. With the rapid development of molecular biology and the completion of the Human Genome Project, research on the pathogenic genes of cardiomyopathy has made great progress. It has been confirmed that hypertrophic card...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 秦伟林希瑾申颜玮胡守旺谢佐福周晓强姚铭锋
Owner 泰普生物科学(中国)有限公司
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com