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
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[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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