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Reagent kit and special capture probe set thereof for detecting pathogenic genes related with phenylketonuria

A technology for phenylketonuria and moderate phenylketonuria, which is applied in the field of kits for detecting phenylketonuria-related pathogenic genes and its special capture probe set, can solve the difficulties and inability to clearly identify heterozygotes and normal individuals early diagnosis of patients

Active Publication Date: 2020-07-10
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

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Problems solved by technology

[0004] At present, the routine clinical diagnosis methods of phenylketonuria mainly include blood phenylalanine measurement, urine pterin spectrum analysis, red blood cell dihydrobiopterin reductase activity measurement, cranial nuclear magnetic resonance examination, etc. These traditional methods not only cannot Early diagnosis of patients, and it is difficult to clearly distinguish heterozygotes from normal individuals

Method used

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  • Reagent kit and special capture probe set thereof for detecting pathogenic genes related with phenylketonuria
  • Reagent kit and special capture probe set thereof for detecting pathogenic genes related with phenylketonuria
  • Reagent kit and special capture probe set thereof for detecting pathogenic genes related with phenylketonuria

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Experimental program
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Embodiment 1

[0041] Embodiment 1, the preparation of the capture kit of pathogenic gene related to phenylketonuria and its special capture probe

[0042] 1. Design and preparation of capture probes for phenylketonuria-related pathogenic genes

[0043] 1. Design of capture probes for phenylketonuria-related pathogenic genes

[0044] Taking the full-length sequences of PAH, PTS, GCH1, QDPR, PCBD1, and SPR genes in the Hg19 reference genome database as the target sequence, refer to the method in patent WO2013 / 003585: stack up each sequence in order to design a probe for capturing and detecting the gene , the probe can bind to the gene. The length of each probe sequence used in the present invention is 78bp. The specific sequence is shown in Table 1.

[0045] Table 1. Probe sequences

[0046]

[0047]

[0048]

[0049] Among them, the probe set for capturing the PAH gene contains 31 oligonucleotide probes, and the base sequences are shown in sequence 1-sequence 31;

[0050] The p...

Embodiment 2

[0119] Example 2, Application of the Capture Kit for Phenylketonuria-Related Pathogenic Genes

[0120] Utilize the capture kit of the phenylketonuria-associated pathogenic gene of embodiment 1 to detect the PAH, PTS, GCH1, QDPR, PCBD1, SPR gene changes of 6 cases that have been identified as phenylketonuria carriers / patient samples, according to the implementation The method of step 3 of Example 1 is carried out.

[0121] The sequencing results are shown in Table 3 and Table 4. The specific mutation sites of PAH, PTS, GCH1, QDPR, PCBD1, and SPR genes corresponding to the samples of phenylketonuria carriers / patients were selected from the sequencing results, as shown in Table 5. Consistent with the results of clinical testing.

[0122] Table 5. The detection results of 6 cases of phenylketonuria samples by the capture kit of phenylketonuria-related pathogenic genes

[0123]

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Abstract

The invention discloses a reagent kit and special capture probe set thereof for detecting pathogenic genes related with phenylketonuria. The capture probe set provided by the invention consists of probes shown as a sequence 1 to a sequence 108 in a sequence table. The reagent kit can detect 6 pathogenic genes related with phenylketonuria, including PAH, PTS, GCH1, QDPR, PCBD1 and SPR at the same time, can detect phenylketonuria of various point mutation types, and can detect the overall length of the genes of PAH, PTS, GCH1, QDPR, PCBD1 and SPR, finding of new pathogenic mutation is facilitated, and a new finding means is provided for heredity foundation of the phenylketonuria.

Description

technical field [0001] The invention belongs to the fields of genetic engineering, molecular genetics and gene detection, and specifically relates to a kit for detecting phenylketonuria-related pathogenic genes and a special capture probe set thereof. Background technique [0002] Phenylketonuria (PKU) is a common amino acid metabolic disease. It is due to the enzyme defect in the phenylalanine (PA) metabolic pathway, which prevents phenylalanine from being converted into tyrosine, resulting in phenylalanine and Its ketoacids accumulate and are excreted in large quantities in the urine. The disease is relatively common in hereditary amino acid metabolism deficiency diseases, and its inheritance mode is autosomal recessive inheritance. The clinical manifestations are heterogeneous, and the main clinical features are mental retardation, psychoneurological symptoms, eczema, skin scratch signs, depigmentation, rat odor, etc., and abnormal EEG. If early diagnosis and early trea...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
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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