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Novel pathogenetic gene mutation of hypertrophic cardiomyopathy and use thereof

A gene and mutation gene technology, applied in the field of hypertrophic cardiomyopathy treatment and diagnosis, can solve problems such as genetic mutation of cardiac hypertrophy that is not included

Inactive Publication Date: 2006-11-22
FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] However, these mutations do not include all genetic mutations that cause cardiac hypertrophy

Method used

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  • Novel pathogenetic gene mutation of hypertrophic cardiomyopathy and use thereof
  • Novel pathogenetic gene mutation of hypertrophic cardiomyopathy and use thereof
  • Novel pathogenetic gene mutation of hypertrophic cardiomyopathy and use thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0035] Example 1 Extraction of Genomic DNA

[0036] 1 Selection of research objects

[0037] The subjects of the study were patients with hypertrophic cardiomyopathy who were diagnosed as outpatients or hospitalized in the Fuwai Cardiovascular Hospital of the Chinese Academy of Medical Sciences. A total of 100 patients had no blood relationship after family investigation. Including 51 probands of hypertrophic cardiomyopathy families, 356 related family members, and 49 sporadic cases. The 120 normal study controls were healthy people with matching gender and age. The selected candidates fill in the "Molecular Genetics Research Case Survey Form", which includes: patient contact information, personal general information, clinical symptoms, physical examination results, family history investigation, laboratory examination, electrocardiogram (holter if necessary), chest radiograph report, ultrasound Cardiogram report (if necessary, cardiac MRI or left ventricular and coronary angiograp...

Embodiment 2

[0046] Example 2 Screening of mutations in β-myosin heavy chain (B-MHC) gene by PCR

[0047] The primers and amplification conditions used are shown in Table 1 below (the genome sequence is from Genebank database, the accession number is M57965):

[0048] Exon

PCR

Fragment length

Primer

PCR reaction conditions

Exon3

Exon4

Exon5

Exon6

Exon7

Exon8

Exon9

Exon10

Exon11

Exon12

Exon13

Exon14

Exon15

Exon16

Exon17

Exon18

Exon19

Exon20

Exon21

Exon22

Exon23

Exon24

Exon25

Exon26

Exon27

245bp

248bp

200bp

146bp

244bp

240bp

223bp

226bp

229bp

398bp

267bp

213bp

232bp

438bp

180bp

474bp

271bp

298bp

285bp

300bp

400bp

282bp

221bp

151bp

420bp

F 5’act cca ggc aca gcc atg gg 3’

R 5’gtg gac tct cac atc agc ct 3’

F 5’gaa agc cca ggc tga cag ga3’

R 5’ggg tgg ac...

Embodiment 3

[0075] Example 3 Screening of mutations in cardiac troponin T (cTnT) gene by PCR

[0076] The primers and amplification conditions used are shown in Table 2 below (the genome sequence is from Genebank database, and the accession number is AY044273):

[0077] Exon

PCR

Fragment length

Degree

Primer

PCR reaction conditions

Exon2

Exon3, 4

Exon5, 6

Exon7

Exon8, 9

Exon10, 11

Exon12, 13

Exon14

Exon 15, 16

203bp

272bp

596bp

292bp

682bp

1357

bp

743bp

315bp

667bp

F 5’tcg ctg atc tct gta caa cgg ggg-3’

R 5’ggt gtc agg gca gcg gcg g-3’

F 5’atg tgt gtg cag gcg tgt gtg ttt-3’

R 5’cca ggg ctc cca gga ttt cca-3’

F 5’tct ctg ctc tgg gtt ctg cct gat a-3’

R 5’att ctc ctc caa agc tgc tgt ga-3’

F 5’gcc ccc gct gcc ttc att c-3’

R 5’cac cat act gca ccc tgt tcc atc a-3

F 5’ggg cag tgc tgg aag att ctc tag g-3’

R 5’gag gaa ggc tgt ctg gag gag gt-3’

F 5’gtc cgt gga gct...

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Abstract

The invention relates to several new mutations of pathogenic genes for hypertrophic cardiomyopathy, and their use in the treatment and diagnosis of hypertrophic cardiomyopathy.

Description

Technical field [0001] The present invention relates to some new mutations in the pathogenic genes of hypertrophic cardiomyopathy, and their use in the treatment and diagnosis of hypertrophic cardiomyopathy. Background technique [0002] As early as the middle of the 19th century, Frenchman A. Vulpian observed and described hypertrophic cardiomyopathy under a microscope, but it was not until the late 1950s that the unique clinical features of hypertrophic cardiomyopathy were systematically discussed. It is usually characterized by asymmetric left and / or right ventricular hypertrophy, which can affect different parts of the ventricle, especially the ventricular septum, and the left ventricular volume can be normal or reduced. The typical morphological change is disordered arrangement of muscle fibers. The clinical manifestations are dyspnea, angina, syncope, arrhythmia, and sudden death. Hypertrophic cardiomyopathy was considered a rare heart disease in the past, but the epidemiol...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/435C12Q1/68
Inventor 惠汝太宋雷邹玉宝王虎宋晓东甄一松
Owner FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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