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A technology based on blastocytes and retina, applied in the field of retinoblastoma gene mutation screening kits, can solve the problems of ineffective screening of related sites and inability to detect mutations, saving time and labor costs, and saving clinical time , cost-effective effect
Pending Publication Date: 2020-12-11
THE SECOND AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIV +3
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The screening of hotspot mutations can only detect one site of interest at a time, and cannot effectively screen a
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[0097] Example
[0098] Experimental steps:
[0099] 1. Extract the genome of the sample to be tested
[0100] 1) add 20ul Proteinase K into the bottom of 1.5EP tube;
[0101] 2) Add 200ul of blood or other body fluids;
[0102] 3) add 200ul Buffer AL, and vortex thoroughly for 15s；;
[0103] 4) Incubate at 56℃ for 10min, and centrifuge the EP tube instantaneously to make the wall liquid concentrate to the bottom of the tube;
[0104] 5) adding 200ul of absolute ethanol, vortex mixing for 15s, and centrifuging instantly;
[0105] 6) move that liquid from the previous step into a collecting pipe; Centrifuge at 8000rpm for 1min, and discard the collected liquid;
[0106] 7) Add 500ul Buffer AW1 and centrifuge at 8000rpm for 1 min;
[0107] 8) Add 500ul Buffer AW2 and centrifuge for 3min； at maximum speed;
[0108] 9) Put the collection tube into a new 1.5ml EP tube (kit not provided), add 100ul DNase-free Water, and incubate at room temperature for 5min；; Centrifuge at 12000rpm for...
Example
[0194] Experimental example 1
[0195] 13 samples were selected for testing in the same batch, and the data of 13 samples were QC. The average QC of 31 genes is shown in Table 2 below.
[0196] Table 2 Average QC of 31 genes
[0197]
[0198]
Example
[0199] Experimental example 2
[0200] 11 samples were screened by sequencing according to the embodiment scheme, and the results are shown in Table 3 below.
[0201] Table 3 Summary of program implementation results
[0202]
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Abstract
The invention discloses a retinoblastoma gene mutation screening probe set. The probe set covers CDS regions of 31 genes related to retinoblastoma, and covers detection of 420 gene mutation positions.The invention also discloses a retinoblastoma gene mutation screening kit. The kit comprises a CDS region sequencing probe set of 31 genes related to retinoblastoma. Based on the second-generation high-throughput sequencing platform, the kit screens 31 genes related to retinoblastoma, can more accurately evaluate gene mutations of retinoblastoma, save time and labor costs, and has characteristicsof saving clinical time, rapid cycle, and high cost performance.
Description
technical field [0001] The invention relates to a gene mutation screening kit, in particular to a retinoblastoma gene mutation screening kit. Background technique [0002] Retinoblastoma (Rb) is a rare malignant tumor that rapidly proliferates and develops from photoreceptor precursor cells. Retinoblastoma is the most common intraocular malignant tumor in infants and young children. It is common in children under 5 years old, accounting for about 3% of all malignant tumors in children, and the survival rate is only one in 20,000. Survivors will lose their eyesight or even have their eyes amputated. [0003] The incidence of retinoblastoma is related to gene mutations, so the detection and screening of retinoblastoma has very important practical significance: on the one hand, screening newborns for retinoblastoma gene mutations can help determine whether there are The carrier of the relevant gene mutation, if there is a relevant carrier, can help judge its risk and help reg...
Claims
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Application Information
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