Journal of Dali University ›› 2021, Vol. 6 ›› Issue (2): 67-71.DOI: 10. 3969 / j. issn. 2096-2266. 2021. 02. 014

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Analysis of Multiple Gene Sequencing Results of Primary Open-Angle Glaucoma with#br# Hereditary Ophthalmopathy

Zhou Jin1, Yao Lei1, Liu Jun2, Ye Longling2, Zhang Yi3, Chen Jin1*   

  1. (1. Anhui Medical College, Hefei 230601, China; 2. Hefei Mingren Eye Hospital, Hefei 230601, China; 3. Jinyu Medical Inspection
    Center, Hefei 230601, China)
  • Received:2019-07-20 Revised:2020-06-28 Online:2021-02-15 Published:2021-03-17

Abstract: Objective: To screen 404 possible pathogenic genes in a family of primary open-angle glaucoma(POAG)in China.
Methods: A total of 9 samples were collected from a POAG family in Hefei Mingren Eye Hospital, and genetic testing for ophthalmologyrelated
genetic eye diseases was performed. Results: The patient and some members(patient´s daughter)were found to have the same
two heterozygous mutations, namely the Leu282Phe heterozygous mutation of the RPGRIP1 gene and the Ser107Leu heterozygous
mutation of the OPA1 gene. However, only the patient was with glaucoma, and his daughter(9 years old)did not have the symptoms.
Conclusion: It is speculated that there may be some glaucoma pathogenic genes that we do not know yet. It is known that
ophthalmology-related pathogenic genes do not cover all glaucoma. The genetic monitoring of this glaucoma family is to be further
studied in order to provide reference for further research on gene therapy for glaucoma.

Key words: multiple gene sequencing, open-angle glaucoma, mutations

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