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Gene panel for detecting single-gene genetic hypertension and application of gene panel

A hereditary, high blood pressure technology, applied in the fields of application, genetic engineering, plant gene improvement, etc., can solve the problems that have not been reported yet, and achieve the effect of improving the diagnosis rate of clinical diseases, early intervention and prognosis improvement

Inactive Publication Date: 2019-05-14
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, no large-scale genetic research on genes related to monogenic hereditary hypertension has been reported, either in the general population or in the hypertensive population.

Method used

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  • Gene panel for detecting single-gene genetic hypertension and application of gene panel
  • Gene panel for detecting single-gene genetic hypertension and application of gene panel
  • Gene panel for detecting single-gene genetic hypertension and application of gene panel

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0040] Example 1 Diagnosis and clinical features analysis of a family with multiple endocrine neoplasia type 2B

[0041] Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant neoplastic syndrome. According to its different clinical manifestations, pathological features and genetic basis, it can be divided into three subtypes, namely MEN 2A, MEN 2B and MTC. Among them, although the incidence rate of MEN 2B is only 2.5 / 100,000, early diagnosis and early intervention are particularly critical because of its early onset age, high aggressiveness, and high fatality rate. This embodiment analyzes the clinical characteristics of a MEN 2B proband and other 5 family members in his family.

[0042] 1. Basic information of the case:

[0043] Patient Ren Moumou, female, 37 years old, was admitted to the Second Affiliated Hospital of Nanchang University in August 2012 because of "repeated palpitations and syncope for 4 months, aggravated with nausea and vomiting for 20 days...

Embodiment 2

[0052] Example 2 Establishment of Whole Exome Sequencing of Control Population and Targeted Capture Sequencing Database of Case Population

[0053] 1. Biological sample collection

[0054] The source of DNA samples involved 1179 clinically suspected monogenic hereditary hypertension patients (case population) and 1256 healthy people (control group) from 19 provinces, 4 municipalities, and 3 autonomous regions in China.

[0055] 2. Establishment of database

[0056] These samples were sequenced using the monogenic hereditary hypertension-related gene panel consisting of 37 genes listed above. In the present invention, the Agilent exome capture kit was used to construct the library of the samples in the experiment, and the samples were analyzed in illumina Sequencing on the X Ten platform to establish a targeted capture sequencing database for case populations and whole exome sequencing for control populations.

[0057] The main purpose of constructing a cDNA library for high-...

Embodiment 3

[0061] Example 3 One case of multiple endocrine neoplasia type 2B family detected by monogenic hereditary hypertension gene detection panel

[0062] 1. Sample collection and genetic testing:

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Abstract

The invention discloses a gene panel for detecting single-gene genetic hypertension and application of a gene panel. By means of the gene panel, potential pathogenic gene mutation of single-gene genetic hypertension can be screened out of massive genetic information by means of targeted high-throughput sequencing in combination of a bioinformatics analysis means, and the positive detection rate ofmutation sites of single-gene genetic hypertension and application can be remarkably increased. The detection result of the gene panel is combined with clinical phenotype of a patient, etiological diagnosis of single-gene genetic hypertension and application of gene panel can be effectively assisted, and therefore the clinical disease diagnosis rate is increased, a specific and effective intervention treatment scheme is implemented aiming to specific illness states, and the effects of early finding, early intervention and prognosis improvement on single-gene genetic hypertension are achieved.According to the technical scheme, the remarkable advantages of being high in gene detection speed, high in disease diagnosis accurate and the like are achieved.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a gene panel for detecting monogenic hereditary hypertension and its application. Background technique [0002] Among secondary hypertensive diseases, there is a group of diseases that conform to the Mendelian inheritance law, called monogenic hereditary hypertension. Monogenic inheritance of hypertension often leads to life-threatening elevations in blood pressure, disturbances in electrolyte and hormone levels, drug resistance, and a substantially increased risk of cardiovascular events and early death, especially in children and young adults. In clinical work, about 25% of refractory hypertensive patients suffer from primary aldosteronism, and about 0.1%-1.0% of hypertensive patients suffer from pheochromocytoma and paraganglioma. [0003] Two major features of monogenic hereditary hypertension are: high heritability and high genetic heterogeneity. For monogenic heredita...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/12C12M1/34
Inventor 蔡军鲍明慧耿彬金翎李双越王文洁
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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