DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of DNA library
A DNA library and malnutrition technology, applied in the field of DNA library, can solve the problems of heavy workload, waste of DNA samples, restricting large-scale application, etc., and achieve the effect of assisting clinical diagnosis
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[0041] In this embodiment, the Hiseq sequencing platform of Illumina Company is used to detect the genomic DNA of the peripheral blood of the subject, and the specific implementation steps are as follows:
[0042] 1. Sample source
[0043] The proband was a 52-year-old male from Fujian Province, China. About 20 years ago, he began to experience corneal epithelial erosion symptoms such as redness, eye pain, photophobia, and tearing, and his vision gradually decreased. Slit lamp examination: Oval opacities with irregular edges can be seen in the subepithelial and superficial layers of the central cornea of both eyes. The 25-year-old daughter of the proband had no obvious clinical symptoms, but the results of slit lamp examination showed scattered punctate opacities under the epithelium of the central cornea of both eyes. The eye examinations of the 23-year-old son of the proband and the wife of the proband showed no abnormalities. The patient's family tree is Figure 4 As ...
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