Gene chip for hereditary leukoencephalopathy and its application

A gene chip and leukoencephalopathy technology, applied in the field of genetic disease detection, can solve the problems of large amount of sequencing data, limitations of genetic diagnosis, high sequencing cost, etc., and achieve the effect of saving sequencing data and balancing cost performance

Active Publication Date: 2019-09-24
XIANGYA HOSPITAL CENT SOUTH UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The high cost of sequencing caused by huge data volume requirements has limited the application of whole genome sequencing to the genetic diagnosis of inherited metabolic diseases
Whole genome sequencing needs to generate a large amount of sequencing data, and the cost of sequencing is high, so the sequencing depth is unlikely to be too deep

Method used

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  • Gene chip for hereditary leukoencephalopathy and its application
  • Gene chip for hereditary leukoencephalopathy and its application
  • Gene chip for hereditary leukoencephalopathy and its application

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Embodiment

[0046] The gene chip of the present invention was tested by using the Affymetrix HG U133A chip platform to detect the gene expression of 648 patients and 700 normal control samples. Gene chip design and testing were performed by Aiji Taikang (Beijing) Biotechnology Co., Ltd.

[0047] Step 1: Extraction of RNA.

[0048] According to the instructions provided by the manufacturer, total RNA was extracted from peripheral venous blood of 800 patients and 800 normal people using QIAGEN’s RNeasy Total RNA Isolation kit; mRNA was extracted from total RNA using QIAGEN’s Oligotex Direct mRNA kit.

[0049] Step 2: RNA precipitation.

[0050] It is not necessary to precipitate total RNA after isolation or washing with QIAGEN’s RNeasy Total RNA Isolation kit. Adjust the elution volume to prepare cDNA synthesis close to the desired RNA concentration. Most Poly(A) + The mRNA isolation process will result in a relatively dilute RNA, so it is necessary to concentrate the mRNA before cDNA s...

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Abstract

The invention discloses a genetic leukoencephalopathy gene chip which comprises a probe aiming at following genes: MCC1, AMACR, PEX1, GALC, GCDH, PANK2, PLA2G6, ARSA and ABCD1. In one embodiment, the sequence of the probe is SEQ ID NO.1-74. The gene chip can realize gene detection of genetic leukoencephalopathy.

Description

technical field [0001] The invention belongs to the field of genetic disease detection, in particular to the detection of hereditary leukoencephalopathy, in particular to a gene chip for hereditary leukoencephalopathy and its application. Background technique [0002] Hereditary leukoencephalopathy, also known as leukodystrophy, refers to a group of progressive genetic diseases that mainly involve the white matter of the central nervous system. The clinical features of white matter lesions mainly include audiovisual impairment (involvement of long tracts), movement disorders, positive pyramidal tract signs, mental retardation or regression, and convulsions are rare or occur late in the course of the disease. [0003] Although these diseases currently lack a radical treatment, and most of them will eventually become disabled or even lead to early death, due to the establishment of molecular genetic diagnosis, most of these diseases can be predicted at present, that is, prenat...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
Inventor 彭镜肖朝华邓小鹿尹飞王晓乐何芳吴丽文杨丽芬张慈柳羊蠡
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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