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Gene detection panel related to autosomal recessive genetic diseases and application of gene detection panel

A gene and single-gene technology, applied in the field of genetic testing, can solve the problems of increasing the psychological burden on the families of children who are recalled for reexamination, increased laboratory workload and screening costs, and damage to the nervous system of children, so as to increase the positive rate of primary screening. High efficiency, shortened diagnosis time, convenient and practical operation

Pending Publication Date: 2020-10-13
GENERAL HOSPITAL OF PLA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

If all recall checks, although more patients with methylmalonic acidemia can be found to avoid missed screening, it will inevitably lead to high false positive rate, increased laboratory workload and screening costs, and also increased recalls Review the psychological burden on the family members of the child
On the contrary, in order to reduce the false positive rate and increase the cut-off value, the false negative rate is increased, and it is easy to miss the screening, causing irreversible neurological damage to the children who missed the screening.

Method used

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  • Gene detection panel related to autosomal recessive genetic diseases and application of gene detection panel
  • Gene detection panel related to autosomal recessive genetic diseases and application of gene detection panel
  • Gene detection panel related to autosomal recessive genetic diseases and application of gene detection panel

Examples

Experimental program
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Effect test

Embodiment 1

[0053] This embodiment provides a detection panel capable of distinguishing methylmalonic acidemia, methylmalonic acidemia combined with homocysteinemia and propionic acidemia, which includes MUT, MMACHC, PCCA 45 mutation sites of the 4 genes of PCCB and PCCB, the specific mutation sites are shown in Table 1.

[0054] Table 1 Detection of 43 mutation sites in the panel

[0055]

[0056]

[0057] The mutation site detection panel provided in this example forms a specific combination of gene mutation sites related to three genetic diseases. Based on the detection panel, one-time detection can be realized clinically while distinguishing methylmalonic acidemia , Methylmalonic acidemia combined with homocysteinemia and propionic acidemia, supplementary screening and differentiation for abnormal MS / MS primary screening, greatly improving the positive rate of primary screening and shortening the diagnosis time.

Embodiment 2

[0059] According to the mutation site detection panel provided in Example 1, the detection multiplex PCR primers and single gene extension primer sequences were designed, and the specific sequences are shown in Table 2 and Table 3.

[0060] Table 2 Multiplex PCR primer sequences

[0061]

[0062]

[0063]

[0064] Table 3 Sequences of single gene extension primers

[0065]

[0066]

[0067] Although multiplex PCR and matrix-assisted laser desorption time-of-flight mass spectrometry have the characteristics of good accuracy, high throughput, and trace detection, the realization of multiplex PCR requires rigorous experimental optimization of its primers and systems, and the development time is long. However, the characteristics of trace analysis and high throughput require its specific implementation process to be carried out in a professional PCR laboratory, which has high environmental requirements. However, the present invention uses multiple PCR primers and s...

Embodiment 3

[0069] The multiplex PCR primers and single gene extension primers in Example 2 were prepared as a kit. In the kit, multiple PCR primer mixes and single gene extension primer mixes are included, as well as: 10×PCR reaction buffer, dNTP Mix (25mM), MgCl 2 (25mM), PCR reaction Taq enzyme 0.2ul, deionized water , SAP reaction buffer, SAP enzyme, ddNTP mixture, extension system buffer, Extension reaction Taq enzyme.

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Abstract

The invention belongs to the field of gene detection, relates to a gene detection panel related to autosomal recessive genetic diseases and an application of the gene detection panel, and particularlyrelates to a gene detection panel for distinguishing methylmalonic acidemia, methylmalonic acidemia combined homocysteinemia and propionaemia. The application comprises the following steps: detecting43 mutation sites of four genes related to three diseases aiming at samples with high genetic metabolic disease screening preliminary screening (tandem mass spectrometry) C3, designing amplificationprimers aiming at the 43 mutation sites to amplify a target sequence, and designing a single-base extension primer to detect target SNP, through multiple PCR and multiple single-base extension reactions, carrying out mass spectrometry according to different genotype masses, and determining the genotype of each site, so that diseases with different prognosis and treatment means are distinguished ata time.

Description

technical field [0001] The invention belongs to the technical field of gene detection, relates to a gene detection panel related to autosomal recessive genetic diseases and its application, and more specifically relates to a method for distinguishing methylmalonic acidemia and methylmalonic acidemia Genetic detection panel for combined homocysteinemia and propionic acidemia. Background technique [0002] Methylmalonic acidemia is an autosomal recessive genetic disease, first reported in 1967 by Oberholzer et al. The disease is mainly due to the defect of methylmalonyl-CoA mutase itself or its coenzyme cobalamin metabolism defect, resulting in the metabolism of methylmalonic acid, 3-hydroxypropionic acid, malonic acid and methyl citrate. Abnormal accumulation of substances, causing relevant clinical manifestations. The age of onset of methylmalonic acidemia varies. Early-onset children with onset within 1 year of age have a poor prognosis and are easily missed or misdiagnos...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2565/627C12Q2533/101C12Q2521/525
Inventor 张春燕崔佳奕程昱璇桑培培舒扬檀旭东张民杰蒋涛史文杰田亚平
Owner GENERAL HOSPITAL OF PLA
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