Kit for detecting regulon of Leber disease and use thereof
A technology of regulators and kits, which is used in the determination/inspection of microorganisms, biochemical equipment and methods, etc., can solve the problems of increased false negatives and strict PCR amplification conditions, and achieves low cost, intuitive result interpretation, and detection process. easy effect
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[0036] Example 1 Detection of Leber hereditary optic neuropathy family carrying mitochondrial gene A4435G mutation and primary G11778A mutation, see figure 1 .
[0037] 1. Test samples
[0038] A family with Leber's hereditary optic neuropathy (WZL4 family) carrying the A4435G mutation was selected. See his pedigree figure 2 . This family presents a typical maternal inheritance, and the only clinical symptom of the patients is uncorrectable visual impairment, but the degree of visual impairment of each member of the family ranges from mild to severe. The total number of people in this family is 25, including 14 members of the maternal line, and 8 people with vision loss.
[0039] 2. Extraction of Genomic DNA
[0040] Obtain the blood filter paper pieces (one drop of blood) of these 8 subjects respectively, and cut the blood filter paper pieces into about 1cm in size with clean scissors 2 Put the shredded pieces of paper into a 1.5ml EP tube (Eppendorf tube), add 900μl...
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