Diagnostic product for detecting Axenfeld-Rieger syndrome
A technology for syndromes and products, applied in DNA/RNA fragments, recombinant DNA technology, determination/examination of microorganisms, etc.
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Embodiment 1
[0029] Example 1: Screening of mutation sites of MMRN1 gene from Axenfeld-Rieger syndrome families
[0030] 1. Extract genomic DNA from peripheral blood:
[0031] In line with the relevant national policies and regulations, and on the basis of the consent of the sampling subjects, 2-5 ml of peripheral venous blood from the first Axenfeld-Rieger syndrome family member was drawn, placed in an EDTA anticoagulation tube, and frozen at -80 °C for future use; After the EDTA anticoagulant was thawed at room temperature, 500 μL was taken into a centrifuge tube, an equal volume of TE (pH 8.0) was added, mixed well, centrifuged at 4°C and 10,000 rpm for 10 minutes, and the supernatant was discarded.
[0032] Add 180 μL TE, 20 μL SDS (10%), 8 μL proteinase K (10 mg / ml), mix well, and place in a 37° C. water bath overnight. Remove the sample from the water bath and briefly centrifuge the sample to pellet. An equal volume of Tris-saturated phenol (about 300 μL) was added to the reaction ...
Embodiment 2
[0075] Example 2: Screening for mutation sites of MMRN1 gene in patients with congenital sporadic Axenfeld-Rieger syndrome
[0076] Collection of sporadic patients with Axenfeld-Rieger syndrome: The sporadic patients with Axenfeld-Rieger syndrome with a clear diagnosis were collected in Shandong Eye Research Institute and Qingdao Eye Hospital.
[0077] Extraction of peripheral blood genomic DNA:
[0078] 2-5ml of peripheral venous blood of the sporadic Axenfeld-Rieger syndrome patients and their mothers were drawn respectively, put into EDTA anticoagulation tubes, and frozen at -80 ℃ for future use; after the cryopreserved EDTA anticoagulation was thawed at room temperature, 500 μL was taken and placed in EDTA anticoagulation tubes. In a centrifuge tube, the conventional phenol-chloroform method described in Example 1 was used to extract genomic DNA from the peripheral blood of each member of the family.
[0079] PCR amplification of the target fragment: Reaction conditions a...
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