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Human idiopathic basal ganglia calcification pathogenic gene and its detection method

A technology of pathogenic genes and detection methods, applied in chemical instruments and methods, biochemical equipment and methods, genetic engineering, etc., can solve the problems of time-consuming, labor-intensive and high-cost

Active Publication Date: 2018-06-29
THE FIRST AFFILIATED HOSPITAL OF FUJIAN MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Due to the limitation of the length of single-reaction sequencing (within 1000bp), the comprehensive analysis based on the traditional Sanger sequencing method is expensive, time-consuming and laborious
However, mutation detection methods based on real-time fluorescent quantitative PCR can only target a small number of known mutations.

Method used

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  • Human idiopathic basal ganglia calcification pathogenic gene and its detection method
  • Human idiopathic basal ganglia calcification pathogenic gene and its detection method
  • Human idiopathic basal ganglia calcification pathogenic gene and its detection method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] According to the detailed medical history and family history investigation, as well as standardized nervous system physical examination and related auxiliary examination information, 10 IBGC patients in the hospital were selected to perform disease-causing gene detection and analysis under the condition that they signed the informed consent.

[0040] (1) PCR capture of 4 pathogenic genes

[0041] Get 10ml of patient's cubital venous blood (EDTA anticoagulant), extract genomic DNA with QIAamp DNA Blood Mini Kit (Qiagen, Germany), use it as a template, use the PCR capture primer set in Table 1 to prepare an amplification system according to Table 2, and The reaction was carried out according to the conditions in Table 3 on a conventional PCR instrument.

[0042] (2) Analysis of gene mutation spectrum by next-generation sequencing

[0043] The multiple PCR amplification products in (1) were sent to Shanghai Jingneng Biotechnology Co., Ltd. for next-generation sequencing. ...

Embodiment 2

[0059] Another 12 IBGC patients different from Example 1 and 200 normal human blood samples were taken for analysis, the method was the same as that of Example 2, and the results are shown in Table 7.

[0060] Table 7 Detection and verification results of pathogenic genes in 12 IBGC patients

[0061]

[0062] The mutations of IBGC patients in Table 5 have been verified by Sanger sequencing, and all mutated genes belong to the 7 gene mutation forms; and in 200 normal people, there are no such mutations, thus from both positive and negative aspects It is verified again that the IBGC pathogenic gene provided by the present invention and the detection method provided by the present invention have good reliability and accuracy.

[0063] Although the present invention has been described in terms of preferred specific embodiments, various modifications and variations of the present invention will occur to those skilled in the art. Any modifications, equivalent replacements, impro...

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Abstract

The invention relates to a human idiopathic basal ganglia calcification pathogenic gene and a detection method thereof. The human idiopathic basal ganglia calcification (IBGC) is a nervous system degenerative genetic disease. The present invention provides 7 mutant forms of the 4 disease-causing genes SLC20A2, PDGFRB, PDGFB and XPR1, the sequences of which are shown in SEQ ID NO.1‑7. The pathogenic gene form provided by the present invention has not been reported yet, which can provide a basis and lay a foundation for the analysis of the pathogenic mechanism of the disease, the development of drugs, the screening and detection of the pathogenic gene, and the formulation of the treatment plan. At the same time, the present invention constructs a method for detecting the pathogenic gene: first, multiplex PCR is used to capture the exon region of the pathogenic gene, and then it is subjected to second-generation sequencing, and the mutation is found through information analysis, and finally the mutation is verified by Sanger sequencing; The capture primer set includes an amplification primer sequence of SEQ ID NO.12-23, and the amplification primer sequence of the Sanger sequencing fragment is shown in SEQ ID NO.24-35. The detection method of the present invention covers all exons of the four pathogenic genes, and can obtain mutation information efficiently, comprehensively, quickly and accurately.

Description

technical field [0001] The invention relates to a gene and a detection method thereof, in particular to a human idiopathic basal ganglia calcification pathogenic gene and a detection method thereof. Background technique [0002] Human idiopathic basal ganglia calcification (IBGC) is a neurodegenerative genetic disease characterized by symmetrical calcification of the basal ganglia and other parts of the brain on imaging, also known as Fahr's disease. The most common site of calcification is the lenticular nucleus of the basal ganglia, especially the globus pallidus, and it is also common in the putamen, thalamus, caudate nucleus, and dentate nucleus of the cerebellum, and even in the cerebral cortex and subcortical white matter. IBGC is a rare disease with sporadic or familial onset, and the onset age of familial patients advances from generation to generation, with slow progression and long course of disease. There is no obvious gender difference in the disease, which mani...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12Q1/6883
CPCC07K14/47C07K14/49C12Q1/6858C12Q1/686C12Q1/6869C12Q1/6883C12Q2600/156C12Q2535/122C12Q2537/143C12Q2535/101C12Q2531/113C12Q2565/543C12Q2565/537
Inventor 陈万金姚香平苏惠贞王柠
Owner THE FIRST AFFILIATED HOSPITAL OF FUJIAN MEDICAL UNIV