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-2380 locus variant of mitochondrial fusion gene 2 and detection method thereof

A site and gene technology, applied in the field of kits for detecting this SNP site, can solve the problems of decreased expression, less research, abnormal expression regulation, etc.

Inactive Publication Date: 2016-02-24
BEIJING ANZHEN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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Problems solved by technology

[0005] Since the main characteristic of Mfn2 gene in the blood vessels and leukocytes of patients with essential hypertension and spontaneously hypertensive rats is the decreased expression, this should be due to the abnormality of its expression regulation. few

Method used

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  • -2380 locus variant of mitochondrial fusion gene 2 and detection method thereof

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Effect test

Embodiment 1

[0028] The -2380 site of the 5' non-coding region of the essential hypertension susceptibility gene MFn2 gene was detected by sequencing. 30 cases of each of the above hypertension cases and control groups were selected for sequencing to determine the genotype of the 5' UTR-2380 site.

[0029] 1. Experimental method

[0030] The above PCR primers were still used as primers for PCR sequencing, and the amplified products were directly sequenced after purification. The sequencing instrument is ABI's 3130xl genetic analyzer, which is analyzed with sequenceanalysis5.2 analysis software, and the results can also be viewed with chromas.

[0031] 2. Experimental results

[0032] The screenshot of the sequencing result is as follows: figure 1 shown.

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Abstract

The invention discloses a -2380 locus variant of mitochondrial fusion gene 2 and a detection method thereof, discloses a single nucleotide locus related to primary hypertension susceptibility and discloses a method for detecting single nucleotide polymorphism of primary hypertension related gene-mitochondrial fusion gene 2 (Mfn2) or hyperplasia suppressor gene (HSG). The method includes: detecting genotype of a -2380 locus in a 5' end non-coding region of the mitochondrial fusion gene 2 (Mfn2) or hyperplasia suppressor gene (HSG) of an individual. The invention further discloses a corresponding detection kit.

Description

technical field [0001] The present invention relates to the fields of molecular biology and medicine. More specifically, the single nucleotide polymorphism (Singlenucleotidepolymorphism, SNP) involving the 5' non-coding region of human mitochondrial fusion gene 2 (Mitofusin2, Mfn2gene) -2380 and its association with essential hypertension detection. The invention also relates to a kit for detecting the SNP site. Background technique [0002] Essential hypertension (Essential hypertension, EH) is a common and frequent multifactorial and polygenic disease caused by environmental and genetic factors, which has a great impact on human health. With the development of molecular medicine, more than 150 hypertension-related genes have been discovered, but the pathogenesis of EH is still not completely clear, and the early diagnosis and prevention of hypertension have not been fully resolved. EH is the result of the joint action of genetic factors and the environment, and 30%-60% ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 王佐广彭晓云魏永祥刘洁琳李梅刘雅牛秋丽靳飞李闯孙东东温绍君
Owner BEIJING ANZHEN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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