Probe group and kit for detecting methylmalonic academia related pathogenic genes

A technology of methylmalonic acidemia and kits, which is applied in the fields of genetic engineering, molecular genetics and gene detection, and can solve problems such as poor efficiency, low throughput, and unsatisfactory detection rate

Active Publication Date: 2020-07-24
北京迈基诺基因科技股份有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

This method has low throughput, poor efficienc

Method used

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  • Probe group and kit for detecting methylmalonic academia related pathogenic genes
  • Probe group and kit for detecting methylmalonic academia related pathogenic genes
  • Probe group and kit for detecting methylmalonic academia related pathogenic genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0052] Example 1, Preparation of methylmalonic acid-related gene capture kit and special probes thereof

[0053] 1. Design and preparation of methylmalonate-related gene capture probes

[0054] According to the full-length sequence of the MUT, MMAA, MMAB, MMADHC and MMAHCC genes in the Hg19 reference genome database as the target sequence, refer to the method in WO2013 / 003585: stack along each sequence in order to design a probe for capturing and detecting the gene, the The probe is capable of binding to the gene. The length of each probe sequence used in the present invention is 78bp.

[0055] The probe set for capturing and detecting MUT includes 29 oligonucleotide probes, the base sequence of which is as sequence 1-sequence 29;

[0056] The probe set for capturing and detecting MMAHC includes 15 oligonucleotide probes, the base sequence of which is sequence 30-sequence 40;

[0057] The probe set for capturing and detecting MMAB includes 42 oligonucleotide probes, the bas...

Embodiment 2

[0134] Embodiment 2, the application of kit

[0135] The present invention will be described in further detail below through specific embodiments

[0136] One, the kit detection of the present invention

[0137] The kit in Example 1 was used to detect the MUT, MMAA, MMAB, MMADHC and MMAHC gene changes in 5 confirmed MMA carriers / patient samples, and the method steps in Example 1 were followed.

[0138] The sequencing results are shown in Table 2.

[0139] The specific mutation sites of MUT, MMAA, MMAB, MMADHC and MMAHCC genes corresponding to known MMA carriers / patients were selected from the sequencing results, as shown in Table 3.

[0140] Table 3. Utilize kit of the present invention to the detection result of methylmalonic acidemia sample

[0141]

[0142]

[0143] 2. Sanger sequencing verification

[0144] The gDNA of the confirmed MMA carrier / patient samples of the above 5 cases was verified by Sanger sequencing, and the results are as follows: figure 1 shown....

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PUM

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Abstract

The invention discloses a probe group and kit for detecting methylmalonic academia related pathogenic genes. The invention provides a capture probe for capturing genes related to methylmalonic academia. The capture probe provided by the invention is composed of probes as shown in sequences 1-99 in a sequence table. The kit disclosed by the invention can be used for simultaneously detecting pathogenic genes of methylmalonic academia, such as MUT, MMAA, MMAB, MMADHC and MMACHC; and moreover, the kit can be used for detecting various point mutation types of methylmalonic academia. Detection of sequences of multiple genes such as MUT, MMAA, MMAB, MMADHC and MMACHC facilitates discovery of new pathogenic mutations, and a new discovery means is provided for genetic basis of methylmalonic academia.

Description

technical field [0001] The invention belongs to the fields of genetic engineering, molecular genetics and gene detection, and specifically relates to a probe group and a kit for detecting methylmalonic acidemia-related pathogenic genes. Background technique [0002] Methylmalonic acidemia (methylmalonic acidemia, MMA), also known as methylmalonic aciduria (methylmalonic aciduria), is the most common disease among congenital abnormalities in organic acid metabolism. The general term for malonate accumulation is an autosomal recessive genetic disease. [0003] Methylmalonate is the metabolite of methylmalonyl coenzyme A. Under normal circumstances, it is converted into succinic acid under the action of methylmalonylmethylcobalamin coenzyme A mutase and vitamin B12, and participates in the production of tricarboxylic acid. cycle. Methylmalonyl-CoA mutase deficiency or vitamin B12 metabolism disorder lead to abnormal accumulation of metabolites such as methylmalonate, propiona...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/106C12Q2600/156
Inventor 伍建姬晓雯郜玉杰
Owner 北京迈基诺基因科技股份有限公司
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