April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Study of the BIGH3 Gene Mutations in Corneal Dystrophies of Chinese
Author Affiliations & Notes
  • H.-P. Cui
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
  • X.-R. Gao
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
  • Y. Ying
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
  • Q. Li
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
  • X. Liao
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
  • F. Wang
    Ophthalmology, Shanghai Tenth People's Hospital, Shanghai, China
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2601. doi:
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      H.-P. Cui, X.-R. Gao, Y. Ying, Q. Li, X. Liao, F. Wang; Study of the BIGH3 Gene Mutations in Corneal Dystrophies of Chinese. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2601.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Introduction: : Objective: To study whether 8 Chinese patients with granular corneal dystrophies(GCD) and macular corneal dystrophies(MCD) carry mutations in BIGH3 gene by means of molecular genetic analysis.

Methods: : Collect 8 corneal dystrophy patients,and select randomly 12 healthy person without any corneal disease and family genetic disease as well as 7 patients’ family members as a control group. Peripheral blood was collected from 8 patients with corneal dystrophies and 19 control subjects, and DNA extraction was performed according to standard protocols.The exons 2,3,4,5,6,9,10,11,12 of BIGH3 gene were amplified by PCR and the products were sequenced directly. Compare the BIGH3 gene sequences in patients and normal controls, to find BGIH3 gene mutaions in Chinese corneal dystrophy patients.

Results: : All 5 GCD patients carry mutations in BIGH3 gene: R124H in 2 cases, R555W in 3 cases, all of them are heterozygous. A BIGH3 gene polymorphism(F540F) is also detected in exon 12 in both the patients(6 cases) and the control subjects(2 cases). None of the 19 control subjects and the 3 MCD patients carry mutations in exons 2,3,4,5,6,9,10,11,12 of BIGH3 gene.Conclution: All 5 China patients with GCD carry mutations in BIGH3 gene. The R124H, R555W mutations detected here are the same mutations as reported previously. All 3 China patients with MCD are not detected mutations in exons 2,3,4,5,6,9,10,11,12 of BIGH3 gene. The F540F mutation in 12 exon is selent mutation which not cause the disease, There have been reports of foreign literature.Key words Corneal dystrophy,BIGH3 gene,mutation,China

Keywords: clinical (human) or epidemiologic studies: systems/equipment/techniques 
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