Targeted capturing and sequencing kit for parkinsoncs disease gene mutation detection and application of target capturing and sequencing kit

A Parkinson's disease, targeted capture technology, applied in the field of molecular biology, achieves high efficiency, large throughput, and rapid detection

Pending Publication Date: 2019-12-31
THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] At present, there is no kit for detecting the genetic cause of Parkinson's disease using target region capture technology and high-throughput sequencing technology

Method used

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  • Targeted capturing and sequencing kit for parkinsoncs disease gene mutation detection and application of target capturing and sequencing kit
  • Targeted capturing and sequencing kit for parkinsoncs disease gene mutation detection and application of target capturing and sequencing kit
  • Targeted capturing and sequencing kit for parkinsoncs disease gene mutation detection and application of target capturing and sequencing kit

Examples

Experimental program
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Effect test

Embodiment 1

[0052] A targeted capture sequencing reagent (capture library) for detecting Parkinson's disease gene mutation of the present invention, including a probe for detecting the SNCA gene, a probe for detecting the PRKN gene, and a probe for detecting the UCHL1 gene Needles, probes for the detection of the PINK1 gene, probes for the detection of the PARK7 gene, probes for the detection of the LRRK2 gene, probes for the detection of the ATP13A2 gene, probes for the detection of the GIGYF2 gene, for the detection Probes for the HTRA2 gene, probes for the detection of the PLA2G6 gene, probes for the detection of the FBXO7 gene, probes for the detection of the VPS35 gene, probes for the detection of the EIF4G1 gene, and probes for the detection of the DNAJC6 gene , a probe for detecting SYNJ1 gene, a probe for detecting TMEM230 gene, a probe for detecting CHCHD2 gene, a probe for detecting VPS13C gene and a probe for detecting RIC3 gene. Probes were designed using the SureDesign online...

Embodiment 2

[0056] An application of the capture library of Example 1 in the preparation of a detection kit for the detection of 19 mutations in Parkinson's disease genes, the application method includes the following: preparing DNA samples and quality control, fragmenting genomic DNA, passing DNA After fragment end repair, adenylation and adapter ligation reactions, the ligation product was obtained, and the specific probe designed and synthesized in Example 1 was used to hybridize the ligated adapter product, captured by streptavidin magnetic beads, and the captured target fragment was obtained After purifying the target fragment of the probe hybridization, the index primers are used for PCR amplification. After separation and purification, the amplified products are obtained to form a high-throughput sequencing library. The library is sequenced based on the Illumina HiSeq 2000 next-generation sequencing platform, and the mutation or variation is judged through data analysis Condition. ...

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Abstract

The invention discloses a targeted capturing and sequencing kit for parkinsoncs disease gene mutation detection and application of the targeted capturing and sequencing kit. The target capturing and sequencing kit comprises probes, capable of specifically capturing the parkinsoncs disease in a targeted manner, of 19 pathogenic gene coding regions, ie SNCA, PRKN, UCHL1, PINK1, PARK 7, LRRK2, ATP13A2, GIGYF2, HTRA 2, PLA2G6, FBXO7, VPS35, EIF4G1, DNAJC6, SYNJ1, TMEM230, CHCHD2, VPS13C and RIC3. The probes are applied to targeted capture of sequences of 19 gene coding regions related to the parkinsoncs disease, then high-throughput sequencing and analysis are performed on the captured sequences, rapid screening is achieved, and gene mutation related to the parkinsoncs disease can be effectively detected at one time. When being applied to clinical gene diagnosis, the targeted capturing and sequencing kit has the advantages of rapidness and convenience in detection, high sensitivity, good specificity and the like.

Description

technical field [0001] The invention relates to the technical field of molecular biology, in particular to a targeted capture sequencing kit for detecting Parkinson's disease gene mutations and its application. Background technique [0002] Parkinson's disease (PD) was first described by James Parkinson as "parkinsonian paralysis", and then neuroscientist Jean Martin Charcot officially named the disease "Parkinson's disease". PD is the second most common neurodegenerative disease after Alzheimer's disease. The incidence of the disease is related to age, and it is common in the elderly. The prevalence rate of the elderly over 60 years old is 1% to 2%. The above increases to 3% to 5%. The incidence rate for all age groups is 8-18 / 100,000 person-years, 50 / 100,000 person-years for those over 65 years old, 150 / 100,000 person-years for those over 75 years old, and 400 / 100,000 person-years for those over 85 years old. ten thousand years. The male to female incidence ratio is abo...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/158C12Q2531/113C12Q2535/122
Inventor 邓昊袁腊梅虢毅邓雄王鹏宋治
Owner THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV
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