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Screening method of inherited metabolic disorder gene

A technology for inherited metabolic diseases and genes, which is applied in the fields of biochemical equipment and methods, and the determination/inspection of microorganisms. It can solve the problems of low detection rate, high cost, long cycle, etc. small damage effect

Inactive Publication Date: 2013-09-18
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 traditional detection of genetic metabolic diseases is the screening of genetic disease genes one by one, which has a long cycle, high cost and low detection rate

Method used

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  • Screening method of inherited metabolic disorder gene
  • Screening method of inherited metabolic disorder gene

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Embodiment Construction

[0039] A method for screening genetic metabolic disease genes of the present invention, comprising the steps of:

[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...

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Abstract

The invention provides a screening method of all inherited metabolic disorder genes for genetic diagnosis within an exon area, which is fast and accurate and can cover the newest inherited metabolic disorder genes. The method provided by the invention comprises the following steps of: drawing 3-5ml of blood from an individual, extracting 3-5 microgrammes of DNA (Deoxyribonucleic Acid) from the blood, interrupting and amplifying the DNA to construct a whole genome library for the patient, capturing the virulence genes by using an inherited metabolic disorder gene scanning kit provided by the invention, carrying out high-throughput sequencing by using a sequencing machine, and analyzing and finding mutation information relevant to the genes so as to obtain the mutation conditions of the inherited metabolic disorder genes of the individual to reach the purpose of accurate genetic diagnosis. Dozens of to thousands of genes and millions of loci can be captured and detected once by taking advantage of the high-throughput sequencing, and the screening method covers known 700 inherited metabolic disorders.

Description

technical field [0001] The invention relates to a method for screening genetic metabolic disease genes. Background technique [0002] Genetic screening for genetic metabolic diseases in newborns refers to the use of fast, simple and sensitive testing methods in newborn populations to detect some congenital and genetic diseases that endanger children's lives, endanger children's growth and development, or cause children's mental retardation. Group examinations are used to make early diagnosis of diseases, combined with effective treatment, to avoid irreversible damage to important organs of children, and to ensure normal physical and intellectual development of children. At present, PCR-based polyacrylamide gel electrophoresis and various gene mutation detection techniques are often used to screen gene point mutations. These methods have certain limitations in meeting the needs of clinical detection of gene mutations. [0003] With the improvement of people's living standard...

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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