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Probe group for detecting 18 monogenic inherited diseases and product of probe group

A probe group and genetic disease technology, applied in the field of molecular biology, can solve the problem of low detection positive rate

Pending Publication Date: 2020-12-18
SHANDONG SHANDA HOSPITAL FOR REPRODIVE MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, screening for diseases such as spinal muscular atrophy (SMA), hemophilia A, Duchenne / Bayer muscular dystrophy, congenital adrenal hyperplasia, and polycystic kidney disease is facing great pressure in terms of technology and data analysis. At the same time, there are certain problems in the capture coverage of the target area of ​​the existing NGS genetic disease detection products
[0005] Currently, Duchenne / Beckin muscular dystrophy and polycystic kidney disease can be detected by NGS method, but the detection rate is low

Method used

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  • Probe group for detecting 18 monogenic inherited diseases and product of probe group
  • Probe group for detecting 18 monogenic inherited diseases and product of probe group
  • Probe group for detecting 18 monogenic inherited diseases and product of probe group

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0093] Example 1: Consistency verification of genetic test results of 10 samples.

[0094] 1. Synthesize target region capture probes according to the probe sequences in Table 3 and Table 4, mix all the probes into a reaction tube, dilute with buffer, and store at -80°C.

[0095] 2. Acquisition and interruption of sample DNA

[0096] Genomic DNA of the samples was obtained using the Tiangen Blood Genome Extraction Kit. The initial amount is 1 μg, and a 200bp DNA fragment is obtained using an ultrasonic breaker.

[0097] 3. Library construction

[0098] The library was constructed using the kit of the standard library construction method of Illumina.

[0099] 4. Hybrid capture and capture library amplification

[0100] 4.1 Hybridization capture: use the probe prepared in 1 and the library constructed in 3 for hybridization capture, and use a capture reagent, the amount of probe per reaction is 2 μl, the capture temperature is 65°C, and the capture time is 16-18h.

[0101] ...

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Abstract

The invention provides a probe group for detecting 18 monogenic inherited diseases and a product of the probe group. The probe group comprises probes with sequences shown as SEQ ID NO: 1-SEQ ID NO: 473, and the product comprises the probe group provided by the invention. The probe group disclosed by the invention can be used for rapidly, efficiently and simultaneously detecting 18 monogenic diseases, and is high in accuracy and high in efficiency.

Description

technical field [0001] The invention belongs to the field of molecular biology and relates to high-throughput detection of various monogenic diseases. Background technique [0002] Genetic diseases refer to diseases caused by changes in genetic material or controlled by disease-causing genes. Among them, single gene disease is the most important type of genetic disease. Many of the currently known diseases are single gene diseases. Such as: hemophilia, color blindness, polydactyly, syndactyly, phenylketonuria, vitamin D-resistant rickets, pseudohypertrophic muscular dystrophy, etc. Genetic diseases involve a wide range, and the birth of deformed children brings a great burden to society and families. Some are expensive, even if they are treatable. Therefore, it is particularly important to vigorously carry out the prevention of genetic diseases and prevent the birth of children with genetic diseases. The Law of the People's Republic of China on Maternal and Infant Healt...

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 高媛高明李杰徐佩文黄色新邹洋马金龙陈子江
Owner SHANDONG SHANDA HOSPITAL FOR REPRODIVE MEDICINE
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