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
CN103305618AInactive Publication Date: 2013-09-18北京迈基诺基因科技股份有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
北京迈基诺基因科技股份有限公司
Publication Date
2013-09-18
Estimated Expiration
Not applicable · inactive patent

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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.
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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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