Screening method of infantile autism gene

A kind of autism and genetic technology, applied in the direction of biochemical equipment and methods, microbiological measurement/inspection, etc., can solve the problems of small fragment abnormalities, increased risk of autism, etc., to achieve small individual damage, high accuracy, good predictive 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

The repeated small segment abnormalities in the 16pl1.2 region of human chromosome lead to a sharp increase in the risk of autism

Method used

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  • Screening method of infantile autism gene
  • Screening method of infantile autism gene

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Embodiment Construction

[0040] A kind of screening method of autism gene of the present invention, comprises the steps:

[0041] 1. Sample library preparation:

[0042]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.

[0043] 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).

[0044] 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 ligase (50 U), a...

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Abstract

The invention provides a screening method of an infantile autism gene. The screening method is quick and accurate and can cover all exon areas of the latest infantile autism gene. According to the basic scheme, the screening method comprises the following steps of: drawing 3 to 5ml of blood from an individual; extracting 3-5ug of DNA (Deoxyribose Nucleic Acid) from the flood; breaking and amplifying the DNA to construct a whole-genome library for a patient; trapping relevant virulence genes through an infantile autism gene scanning kit; performing high-throughput sequencing through a new generation sequenator; and analyzing and finding out the gene-related mutant information to obtain the mutation conditions of the gene related to the infantile autism of the individual so as to realize the purpose of accurate genetic diagnosis.

Description

technical field [0001] The invention relates to a gene screening method, in particular to an autism gene screening method. Background technique [0002] Autism is considered one of the most serious public health problems affecting children worldwide. Now, every 20 minutes in the world, a child is diagnosed with autism, and the number of autistic patients has reached 67 million. There are more than 1 million children with autism in China, and the prevalence rate is increasing year by year. There may be more undiagnosed and autistic children. The National Institute of Mental Health conservatively estimates that the incidence of autism in the United States is five to six per 1,000 people. In total, the rate of men suffering from autism is three to four times higher than that of women, but women will have more severe symptoms than men when they develop autism. According to data released by the United Nations, the incidence of autism is 1 / 150. Symptoms need to appear before t...

Claims

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Application Information

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Patent Type & Authority Applications(China)
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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