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Nucleic acid related to Alzheimer's disease and application of nucleic acid

An Alzheimer's disease and nucleic acid technology, applied in the field of genes, can solve the problems of patients whose etiology is unknown, patients who cannot be suspected of having the disease, etc.

Inactive Publication Date: 2019-03-01
SHENZHEN HUADA GENE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although some mutations in these genes have been found to cause Alzheimer's disease, there are still many patients whose etiology is unknown
However, there are still many undiscovered or detected mutations in these genes or other genes, which directly leads to the inability to accurately judge whether patients suspected of having the disease through the existing detection methods. For Al The diagnosis of Alzheimer's disease, blocking the inheritance of the disease in the family, and the development of target drugs have a great impact

Method used

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  • Nucleic acid related to Alzheimer's disease and application of nucleic acid
  • Nucleic acid related to Alzheimer's disease and application of nucleic acid

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0030] In this example, a patient with Alzheimer's disease was selected and his blood sample was subjected to exome sequencing; the exome sequencing used the BGI Exome V4 Kit 59M whole exon capture kit, combined with the BGISEQ-500 high-throughput sequencing platform to obtain mutations data. Then, through the filtering of public databases such as the dbSNP database, the Thousand Genomes database, and the HapMap database, all known mutations with an allele frequency greater than 0.005 in the database were removed; at the same time, the synonymous mutations were removed by combining the known gene information of Alzheimer's disease. Mutations and mutations in non-coding regions, and SNP function prediction using SIFT software, and finally a gene mutation that may cause disease was obtained. details as follows:

[0031] 1. Sample collection

[0032] The patient's peripheral blood sample was taken to extract the whole genome DNA. In this case, the OMEGA Blood DNA Midi Kit was u...

Embodiment 2

[0066]In this example, based on the PSEN2c.505C>A heterozygous mutation of the Alzheimer's disease gene detected in Example 1, specific primers were designed, PCR amplification was performed, and Sanger sequencing was used to confirm the authenticity of the mutation, as follows:

[0067] The primer sequences designed in this example are as follows:

[0068] Upstream primers:

[0069] Seq ID No.3: 5'-TAGGAGACACCCAGCATTAC-3'

[0070] Downstream primers:

[0071] Seq ID No. 4: 5'-AAATCAGGAACGAGACAGAA-3'.

[0072] Using the designed specific primers, the whole genome DNA of the extracted patients was amplified by PCR, and then verified by Sanger sequencing. DNA Extraction Reference Example 1, using a spectrophotometer to measure the concentration and purity of DNA, the OD260 / OD280 of the genomic DNA of each sample obtained is between 1.7-2.0, the concentration is not less than 200ng / μL, and the total amount is not less than 30 μg.

[0073] The PCR amplification reaction syste...

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Abstract

The invention discloses a nucleic acid related to Alzheimer's diseases and the application of the nucleic acid. The nucleic acid related to Alzheimer's diseases is formed by generating c.505C>A mutation in an encoding zone of a wild PSEN2 (Presenilin) gene. The nucleic acid disclosed by the invention is a novel related pathogenic nucleic acid related to Alzheimer's diseases, discovery of the nucleic acid or a pathogenic mutation site further expands and completes detection and research on Alzheimer's diseases, a novel detection site and novel detection methods and ways are provided for diagnosis or treatment on the diseases, and a novel target site is also provided for development of target medicines.

Description

technical field [0001] This application relates to the field of genes, in particular to a nucleic acid related to Alzheimer's disease and its application. Background technique [0002] Alzheimer's disease (Alzheimer's disease, abbreviated as AD, commonly known as senile dementia) is a neurodegenerative disease with insidious onset and progressive development. The early clinical manifestations are mainly memory loss and decline in self-care ability of patients, which eventually lead to progressive cognitive dysfunction and loss, neurobehavioral abnormalities, mental status and complete loss of self-care ability. The etiology is unknown. So far, Alzheimer's disease gene research has found 3 disease-causing genes: β-amyloid precursor protein (abbreviated APP), presenilin 1 and 2 (respectively abbreviated PSEN1, PSEN2); Abbreviation ApoE) allele is its important genetic factor. And the genetic patterns of Alzheimer's disease associated with these genes were all autosomal domin...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/12C07K14/47G01N33/68
CPCG01N33/6896C12Q1/6883C07K14/4711G01N2800/2821C12Q2600/156
Inventor 黄小燕刘汉奎张建国张振馨
Owner SHENZHEN HUADA GENE INST
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