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Screening method of leukoencephalopathy genes

A leukoencephalopathy and genetic technology, applied in the direction of biochemical equipment and methods, microbial measurement/inspection, etc., can solve the problems of difficult diagnosis, complex clinical manifestations of leukoencephalopathy, etc., achieve high accuracy, small individual damage, predict good sex effect

Inactive Publication Date: 2013-09-11
北京迈基诺基因科技股份有限公司
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AI Technical Summary

Problems solved by technology

[0004] The clinical manifestations of leukoencephalopathy are complex and diverse, and it is difficult to make a diagnosis based on clinical symptoms and general examination alone

Method used

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  • Screening method of leukoencephalopathy genes

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Embodiment Construction

[0039] A screening method for leukoencephalopathy gene of the present invention comprises the following steps:

[0040] 1. Sample library preparation:

[0041] 1.1) Ultrasound fragmentation: the initial amount is 3 μg, diluted to 30 ng / μL with 1×low TE Buffer. Covaris S2 ultrasonic instrument was used for ultrasonic fragmentation, and the values ​​of Covaris system were set according to the standard, 6 cycles×60s, water bath temperature: 5°C, duty cycle: 20%, intensity: 5, mode: Frequency sweeping.

[0042]1.2) End filling: Take 100 μL fragmented DNA, 8 μL dNTPs, 2 μL End Polishing enzyme I (10 U / μL, Agilent), 16 μL End Polishing enzyme II (5 U / μL, Agilent), and add water to a total volume of 200 μL. Incubate at 25°C for 30min. DNA was purified using PureLink PCR purification kit (Invitrogen).

[0043] 1.3) Ligate P1 and P2 adapters: 26 μL each of SOLiD adapter 1 (PleA) 50 μmol / L and adapter 2 (P2eA) 50 μmol / L (Applied Biosystems), 48 μL of end-filled DNA, 10 μL of T4 DNA l...

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Abstract

The invention provides a screening method of leukoencephalopathy genes, and the screening method is rapid and accurate, and can cover all exon regions of the latest leukoencephalopathy genes. The basic scheme disclosed by the invention comprises the following steps of: extracting 3-5ml of blood from an individual; extracting 3-5 mug of deoxyribonucleic acid (DNA) from the blood, breaking and amplifying the DNA, so as to build a whole genome library of a patient; trapping related disease genes by using a leukoencephalopathy gene scanning kit; carrying out high-throughput sequencing by utilizing a new generation of sequencer, and analyzing to find out related mutation information of the genes, so as to obtain the mutation situation of infantile autism-related genes of the individual. Thus, the target of accurate genetic diagnosis is achieved.

Description

technical field [0001] The invention relates to a gene screening method, in particular to a gene screening method for leukoencephalopathy. Background technique [0002] Primary leukoencephalopathy in white matter called primary leukoencephalopathy, referred to as leukoencephalopathy (Leukoencephalopathy). Leukoencephalopathy is further divided into two categories according to whether the myelin sheath is mature at the time of onset: one is congenital and hereditary leukoencephalopathy, and this type of leukoencephalopathy is usually called leukodystrophy or hereditary leukodystrophy. Leukodystrophy (Heredity Leukodystrophy), abnormal production, maintenance and decomposition of myelin is the cause of white matter myelination disorder. Such diseases usually include: adrenoleukodystrophy, metachromatic leukodystrophy, spheroid cell leukodystrophy, spongiform encephalopathy, Alexander disease, extracortical axonal dysplasia, etc. The other type is acquired leukoencephalopathy...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 伍建
Owner 北京迈基诺基因科技股份有限公司
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