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Genetic metabolic disease gene chip and application thereof

A gene chip and metabolic disease technology, applied in the field of gene chips for genetic metabolic diseases, can solve the problems of genetic testing not included in the medical system, high cost, and limitations of genetic diagnosis, so as to save the amount of sequencing data, detect with high accuracy, and achieve accurate sexual effect

Active Publication Date: 2019-12-13
北京摩尔美康医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The high cost of sequencing caused by the huge data volume requirements has limited the application of whole genome sequencing in the genetic diagnosis of inherited metabolic diseases
The existing gene capture + next-generation sequencing method detects more than 4,000 genes, which is costly and not very specific
This makes it necessary for patients with positive tests to be tested twice before and after, which is laborious and laborious
Moreover, in most cases, genetic testing is not yet covered by the healthcare system or insurance, resulting in a severe financial burden for patients and their families

Method used

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  • Genetic metabolic disease gene chip and application thereof
  • Genetic metabolic disease gene chip and application thereof
  • Genetic metabolic disease gene chip and application thereof

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Embodiment Construction

[0025] The objects and functions of the present invention and methods for achieving the objects and functions will be clarified by referring to the exemplary embodiments. However, the present invention is not limited to the exemplary embodiments disclosed below; it can be implemented in various forms. The essence of the description is only to help those skilled in the relevant art comprehensively understand the specific details of the present invention.

[0026] In the present invention, the genome position is performed according to the version of (H.sapiens, hg19, GRCh37, February 2009), but those skilled in the art should understand that such genome position can correspond to the position of other versions of genome data, as long as the gene The relative position of can be corresponding.

[0027] In the present invention, mutations are represented by common notations in the art. For example, in a mutation (c.1072C>T; p.P358S), c represents a coding sequence, p represents a...

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Abstract

The invention discloses a genetic metabolic disease gene chip. The gene chip comprises a probe aiming at 53 genes as follows: MTHFR, SUGCT, MVK, GCSH, IVD, CPS1, HCFC1, MCCC1, PRODH, PCCA, PNPLA2, TAT, MMACHC, GLDC, HGD, OPLAH, MUT, GCDH, MLYCD, GIF, TH, LMBRD1, LMF1, OXCT1, PAH, SPR, AUH, AASS, GRHPR, HLCS, SLC25A13, ETFA, DLD, PCCB, ACADSB, ACADVL, MCEE, AHCY, ASH, CBS, GCH1, HADHA, HAL, ASPA, CPT1A, HADH, HADHB, SLC22A5, FAH, OPA3, SLC25A20, CD320 AND CTH. The gene chip disclosed by the invention can be used for detecting all mutations on hundreds of genes at one time; and high-depth sequencing realizes the accuracy of mutation detection.

Description

technical field [0001] The invention belongs to the field of biotechnology, and more specifically relates to genetic testing, in particular to a gene chip for genetic metabolic diseases and its application. Background technique [0002] Inherited metabolic diseases are genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of polypeptides and (or) proteins that are necessary to maintain the normal metabolism of the body, that is, mutations in the genes encoding such polypeptides (proteins) resulting in diseases. Most of them are single-gene genetic diseases, and part of the etiology of genetic metabolic diseases is caused by genetic inheritance. There are more than 4,000 types of single-gene genetic diseases, and the number of newborns in my country exceeds 10,000 each year, which is extremely harmful to the health of the population, among which genetic metabolic diseases are the main ones. Inherited metabolic diseases are e...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6837
CPCC12Q1/6883C12Q1/6837C12Q2600/156
Inventor 王梅
Owner 北京摩尔美康医学检验实验室有限公司
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