New mutant protein related to dilated cardiomyopathy, new mutant gene and application thereof
A technology of mutated protein and titin, applied in the direction of muscle protein, application, genetic engineering, etc., can solve the problem of inability to explain the cause of the disease, and achieve the effect of reducing the birth of sick children
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Embodiment 1
[0045] Example 1: Dilated cardiomyopathy patient / carrier verification experiment
[0046] Sample source: Xuzhou Central Hospital, on the premise that the dilated cardiomyopathy proband and family members voluntarily sign the informed consent, send 5-10mL whole blood samples (add EDTA anticoagulant, store at -80°C), and establish medical records A library to record in detail the proband's condition, family status and other information. This study has been approved by the institutional ethics committee.
[0047] Randomly collect 200 healthy samples unrelated to the family of the proband with dilated cardiomyopathy as verification samples, each collect 2-4mL EDTA anticoagulant blood, and store at -80°C.
[0048] 1. Preparation of Genomic DNA
[0049] Whole-genome DNA was extracted from human whole blood EDTA anticoagulated samples of the proband and verification samples, using the magnetic bead method whole blood genome DNA extraction kit, and the operation steps were carried out...
Embodiment 2
[0085] Example 2. Unrelated sample verification experiment--family screening of dilated cardiomyopathy
[0086] 1. Experimental method
[0087] A family with dilated cardiomyopathy was recruited (the family picture is shown in figure 1 shown), all family members (4 patients in the family and 5 normal people in the family) underwent laboratory examination, electrocardiogram and dynamic electrocardiogram examination, exercise electrocardiogram examination and imaging examination, and it was initially confirmed that they were consistent with dilated cardiomyopathy family characteristics.
[0088] Through genetic testing, 4 patients with dilated cardiomyopathy were detected in the family; according to family members, a deceased member of the family was also a patient with dilated cardiomyopathy.
[0089] In addition, 1174 healthy people without dilated cardiomyopathy were recruited as controls.
[0090] The method in Example 1 was used to amplify the TTN gene c.20292_20293 of ...
Embodiment 3
[0101] Embodiment 3: TTN gene kit for in vitro detection of patients with dilated cardiomyopathy
[0102] 1. Kit composition:
[0103]
[0104] 2. How to use:
[0105] (1) Genomic DNA extraction: Use a DNA extraction kit to extract genomic DNA from peripheral blood samples.
[0106] (2) PCR amplification: PCR amplification was performed using the above-mentioned kit, and the reaction system and reaction conditions were referred to in Example 1.
[0107] (3) Purify the PCR amplification product.
[0108] (4) Perform Sanger sequencing on the purified PCR amplification product.
[0109] (5) Analyze the sequencing results and compare with the wild-type coding gene to determine whether there is a heterozygous deletion mutation of the TTN gene c.20292_20293.
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