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Bo-I Kuo, I-Jong Wang; Next Generation Exomic Sequencing for Pterygium. Invest. Ophthalmol. Vis. Sci. 2018;59(9):143.
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© ARVO (1962-2015); The Authors (2016-present)
To study the mutation loci in pterygium with more comprehensive and repeatable methods by next generation exomic sequencing
Six specimens of primary pterygium that underwent surgical excision were collected. DNA was extracted from specimens for further sequencing. After conducting the quality control, total five pterygial specimens were enrolled into the study. We adopted the whole exomic sequencing resulting from next generation sequencing and analyzed the sequencing variations integrating with hot-spot genes database.
After integrating with hot-spot gene database, total fifteen mutations which contained seven missence loci, SYNE1, TP53, RET, STK11, CEBPA, TNFAIP3 and IL7R, were identified. Besides, PDGRA, SYNE1 and NOTCH1 are three mutations that shared by all specimens. Among our mutation genes, seven mutations were high allele frequency mutation comparing with hot-spot gene database. Our mutation genes could be classified into four functional categories which were tumor suppressor genes, oncogenes, immune-related genes and cell migration and signaling genes that might explain the mechanism of pterygium formation.
To study the genetic variation in pterygium, we adopted the whole exomic sequencing resulting from next generation sequencing and analyzed the sequencing variations integrating with hot-spot genes database. Total seven missence loci and seven high allele frequency mutation were identified. In addition, all specimens shared the same three mutations. Further validation of our reported mutations should be constructed.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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